PEDIATRIC AND ADOLESCENT GYNECOLOGY pptx

C H A P T E R 18 PEDIATRIC AND ADOLESCENT GYNECOLOGY The reproductive tract in pediatric and adolescent patients differs from that of the adult, requiring special techniques and equipment for examination The gynecologic problems addressed in children and adolescents may differ markedly from those of adult women but may be no less serious Both the anatomy and physiology of the reproductive tract will change from the hormone-stimulated state of the newborn to the relatively estrogen-free state of the young child to the blossoming of womanhood during adolescence ANATOMIC AND PHYSIOLOGIC CONSIDERATIONS NEWBORN The newborn female reproductive tract has experienced prolonged stimulation by transplacentally acquired maternal hormones With transection of the umbilical cord, these hormone levels fall, with slow reversal of their effects over the first month of life Breast buds are present in most female newborns, and some will produce milk if massaged Breast massage should be avoided to prevent infection or continued milk production At birth, the clitoris is prominent, with a clitoral index of Ͻ0.6 cm2 (clitoral index ϭ length in centimeters ϫ width in centimeters) The labia minora are large and may protrude through bulbous labia majora The hymen is prominent and red, protecting a vagina that averages cm long A whitish vaginal discharge of mucus and exfoliated cells with an acid pH may be prominent The uterus may be enlarged (4 cm long), with cervical eversion present The endometrium may slough and vaginal bleeding may occur within a few days after birth Parents can be reassured that the 527 Copyright 2001 The McGraw-Hill Companies Click Here for Terms of Use 528 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY bleeding will stop by 10 days of age The ovaries have not descended from the abdomen and cannot be palpated if normal YOUNG CHILD (UNDER YEARS) With little estrogen stimulation, the external genitalia have involuted from birth The labia majora are flat, and the labia minora are thin, as is the hymen The clitoris is no longer prominent, but the clitoral index remains unchanged The mucous membranes are pink and only slightly moist The diameter of the hymenal opening is ϳ0.4 cm The vagina is ϳ5 cm long, and its secretions have an alkaline pH Vaginal fornices not develop until puberty Therefore, the cervix is appositioned against the vaginal vault and is difficult to see or palpate If seen, the cervical os is a small slit The regressed uterus does not return to the size of the newborn until y The ovaries have many follicles that decrease in number until menarche During this time, the ovaries begin their descent into the true pelvis OLDER CHILD (7–10 YEARS) As estrogen stimulation returns, the mons pubis thickens, the labia majora fill out, and the labia minora become more rounded The hymen thickens, and the opening enlarges to 0.7 cm The vaginal mucosa thickens, and the vagina elongates to cm The body of the uterus enlarges primarily by myometrial proliferation The endometrium gradually thickens The ovaries enlarge and descend lower into the pelvis The follicles enlarge, although none will participate in ovulation, then gradually regress in size Breast buds may appear YOUNG ADOLESCENT (10–13 YEARS) During this phase of development, the external genitalia continue to approach adult appearance Bartholin glands begin to produce mucus immediately before menarche The hymenal opening enlarges to about cm The vagina lengthens to adult size (10–12 cm), and vaginal secretions become acidic The vaginal fornices develop The body of the uterus becomes twice as long as the cervix The ovaries descend further into the true pelvis Breast development continues, with buds progressing to small mounds Other secondary sex characteristics develop (pubic and axillary hair), the body becomes more rounded, and the adolescent growth spurt begins CHAPTER 18 PEDIATRIC AND ADOLESCENT GYNECOLOGY 529 GYNECOLOGIC EXAMINATION NEWBORN Because internal examination usually is unnecessary and difficult at this age, examination is usually limited to the external genitalia Assessment includes the overall appearance, and looking for anomalies in addition to ambiguity of sex differentiation An abnormal or enlarged clitoris may suggest congenital adrenal hyperplasia The hymen is inspected for patency (to rule out imperforate hymen or vaginal agenesis) Rectal examination may detect the cervix, but normally no other reproductive organs will be palpable CHILD Avoiding the use of stirrups often enhances the child’s cooperation An adequate view of the genitalia can be obtained with the child in the frog leg position (knees flexed, legs fully abducted) on the examination table or in the mother’s lap Enlisting the child’s cooperation is often facilitated by direct conversation and explanation during the examination After a general examination, including inspection and palpation of the breasts, attention may be directed to gentle palpation of the abdomen Ovarian tumors in this age group usually occur in the low to midabdomen Evaluation of the external genitalia includes evidence of proper hygiene as well as lesions of the skin, inflammation, tumors, excoriations, or vaginal discharge The labia minora should be separate posteriorly Ascertaining the presence of a vaginal opening is usually accomplished by direct visualization Digital rectal examination must be gentle If visualization of the upper one third of the vagina is necessary (e.g., foreign body, abnormal bleeding, screening for in utero DES exposure, or penetrating injury), a vaginoscope, cystoscope, or laparoscope may be used and examination under anesthesia may be necessary In the younger child, a 0.5 cm instrument can be used In the older child, an 0.8 cm instrument usually can be passed through the hymenal orifice YOUNG ADOLESCENT At this age, the girl may be very sensitive about the changes in her body She should be an active participant in the history and 530 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY examination process She should be asked whether or not she wishes her mother to be present, and a female assistant should be present if the mother is not It is important to reassure her that she may be embarrassed or somewhat uncomfortable but that the examination will not be painful and her hymen will not be damaged Sufficient time must be available to allow for an unhurried examination and full explanation of each procedure Explaining and teaching breast self-examination during the breast examination helps to establish this preventive measure Stirrups usually are accepted in this age group After examination of the external genitalia, the cervix and vagina may be inspected using a long-bladed Huffman-Graves vaginal speculum If the hymenal opening is of sufficient size, bimanual palpation may be accomplished with a single finger in the vagina If not, the uterus and ovaries may be palpated using the rectal approach After the examination, it is crucial to discuss the findings with the patient and address her concerns Patient–doctor confidentiality should be maintained If there is some problem of which the parents should be made aware (e.g., pregnancy), advising the patient and serving as a supportive advocate may assist her in the necessary communication(s) CONGENITAL ANOMALIES OF REPRODUCTIVE TRACT TYPICALLY DIAGNOSED BEFORE MENARCHE ABNORMALITIES OF THE HYMEN There are so many normal variations in the appearance of the hymen (e.g., size and number of orifices, thickness) that essentially the only true anomaly is imperforate hymen The solid membrane of the imperforate hymen is thought to be a persistent portion of the urogenital membrane formed whenever the mesoderm of the primitive streak abnormally invades the urogenital portion of the cloacal membrane Obstruction of the vaginal outlet by the imperforate hymen causes a buildup of vaginal secretions, initially a mucocolpos, and later (postmenarche) a hematocolpos The mucocolpos may be seen as a flat or mildly protruding, thin, shiny membrane The vagina is distended and may fill the pelvis Sonography will distinguish between this condition and vaginal agenesis Hematocolpos is diagnosed in an amenorrheic adolescent with a bulging purplish red hymenal membrane and distended vagina Blood may fill the uterus CHAPTER 18 PEDIATRIC AND ADOLESCENT GYNECOLOGY 531 (hematometra) and spill from the uterine tubes into the peritoneal cavity Imperforate hymen is corrected surgically at the time of diagnosis In the newborn, the procedure involves simple excision without sutures In the postmenarchal patient, the membrane must be excised or incised as sutured because simple incision and drainage are likely to result in spontaneous closure and recurrence of hematocolpos In some cases, an apparently imperforate hymen has very tiny openings and is termed microperforate hymen Treatment is similar to that for imperforate hymen A septate vagina may have a single thick median ridge at the hymenal orifice separating the two halves, leaving a double hymenal opening Surgical correction is necessary if obstruction of vaginal drainage is evident or if it will interfere with intercourse VAGINA VAGINAL SEPTUM A vaginal septum may be transverse or longitudinal The transverse septum is the result of faulty canalization of the embryonic vagina and may occur at any level Septa in the upper portion usually are patent, whereas those in the lower portion of the vagina may be imperforate and result in mucocolpos or hematocolpos Incomplete septa may be followed until menarche, when complete excision can be performed more easily A complete transverse septum should be incised at diagnosis to allow drainage to occur until menarche, when complete excision of the remaining septum along with the attached dense, subepithelial connective tissue can be performed A longitudinal vaginal septum results from improper fusion of the distal ends of the mullerian ducts The septum is fibrous, with an epithelial lining that divides the vagina into two There may be an accompanying bicornuate uterus with one or two cervices Treatment is necessary only if there is obstruction of drainage from one side of the vagina, if dyspareunia is present, or if it would interfere with vaginal delivery Rarely, a double vagina, complete with two separate muscle layers, occurs and may be accompanied by double vulva, bladder, and uterus AGENESIS Nearly all patients presenting with an absent vagina have one of four circumstances: the Mayer-Rokitansky-Kustner-Hauser syndrome, 532 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY Kallmann’s syndrome, male pseudohermaphroditism, and testicular feminization In the two syndromes, the individuals are genetically female (46,XX), whereas in the latter two circumstances, the individuals are genetically male (46,XY) Numerically, although still rare, the Mayer-Rokitansky-Kustner-Hauser syndrome is by far and away the most common Vaginal agenesis when associated with absence of the cervix and complete or partial uterine absence (and possibly the uterine tubes) is the Mayer-Rokitansky-Kustner-Hauser syndrome (also called the Rokitansky sequence) This condition is the result of embryologic failure of the mullerian ducts to make contact with the posterior portion of the urogenital sinus Defects of the urinary tract (45%) and spine (10%) are common, as is hearing deficiency On examination, a dimple is noted where the hymenal opening should be, with the remainder of the external genitalia appearing normal Imaging (sonography, CT, or MRI) usually confirms the absence of, or rudimentary internal genitalia, with normal ovaries Almost all of Mayer-Rokitansky-Kustner-Hauser syndrome patients will have a 46,XX karyotype, but male pseudohermaphroditism and testicular feminization must be ruled out via karyotypic documentation Treatment of the Mayer-Rokitansky-Kustner-Hauser syndrome patient usually involves only the development of a neovagina (see below) Kallmann’s syndrome (KS) is the association of olfactory deficit with irreversible, congenital gonadotrophin deficiency (IHH) There are several variants, and it occurs in both sexes In at least one of the male syndromes there is spontaneous endogenous gonadotrophin secretion recovery in later life (the Bauman variant) The nongonadal manifestations of Kallmann syndrome vary: unilateral renal aplasia, coloboma of iris, deafness, midline anomalies, oculomotor apraxia, and Moebius anomalad Most (but not all) patients have low serum levels of basal gonadotrophins, testosterone, or estrogen, and had a poor response to LHRH stimulation Gene mutations that affect hypothalamic, pituitary, and gonadal function include: three genes that cause inherited hypogonadotropic hypogonadism, gene mutations for the beta-subunits of FSH and LH have been characterized, and both activating and inactivating mutations have been identified for the gonadotropin receptor genes Treatment includes exogenous sex hormone replacement and psychological support, with long-term followup to ensure normal sexual development, normal bone mass, and psychosocial outcome, with fertility induction when indicated The evaluation of pseudohermaphroditism and testicular feminization necessarily involves detailed psychologic evaluation for gender acceptance before initiating therapy Therapy must be highly individualized and is probably best performed in one of CHAPTER 18 PEDIATRIC AND ADOLESCENT GYNECOLOGY 533 the national centers experienced in dealing with these complex problems The treatment of vaginal agenesis involves the creation of a vagina when the patient is contemplating sexual activity This can be accomplished without surgery by having the patient use a series of progressively larger dilators to exert pressure in the dimple where the hymen should be for 20–30 daily for several months If this is unsuccessful, a vagina may be created surgically Currently, three surgical procedures are popular for creation of the neovagina: AbbeMcIndoe (performed vaginally using a split thickness skin graft over a stint), Vecchetti (a combined vaginal and laparascopic approach), and the use of a portion of sigmoid (requires laparotomy and bowel surgery) The ovaries function normally in the Mayer-Rokitansky-KustnerHauser syndrome and pregnancies have been reported by in vitro fertilization with use of a surrogate Transvaginal ovum recovery is materially easier in those cases where the neovagina was created by pressure Partial vaginal agenesis, usually only the lower one third, is believed to result from failure of the urogenital sinus epithelium to invade the vagina at 4–5 months gestation The upper vagina, uterus, and tubes are normal Visual examination externally is the same as total vaginal agenesis, but sonographic examination confirms the presence of internal genitalia Rectal examination may reveal a distended upper vagina (especially if postmenarchal), and renal anomalies may be present Treatment of partial vaginal agenesis requires drainage of the obstructed upper vagina, usually by creation of a lower vagina UTERUS Most uterine anomalies are not diagnosed until after menarche unless other abnormalities of the reproductive tract are present (see Fig 18-1 and Chapter 22) URETHRA Epispadias is the term used to describe the female urethra that opens cephalad to a bifid clitoris as the result of failure of normal fusion of the anterior wall of the urogenital sinus This may be accompanied by exstrophy of the bladder and defects in the abdominal wall as well as the pelvic girdle Urological reconstruction is performed in infancy, but gynecologic repair usually is delayed until adolescence 534 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY FIGURE 18-1 Congenital uterine abnormalities (From B Pensky, Review of Medical Embryology Macmillan, 1982.) CHAPTER 18 PEDIATRIC AND ADOLESCENT GYNECOLOGY 535 GYNECOLOGIC DISORDERS IN PREMENARCHAL CHILDREN VULVOVAGINITIS Vulvovaginitis is likely the most common gynecologic problem in childhood The susceptibility of young girls to infection is high because of the thin, atrophic vaginal mucosa (lack of estrogen stimulation), contamination by feces (poor hygiene), and relatively impaired immune mechanisms of the vagina The history, physical examination, and cultures and laboratory tests should be conducted keeping in mind the possibility of sexual assault Nonspecific vulvovaginitis is a polymicrobial infection associated with disturbed homeostasis, usually secondary to poor hygiene or foreign body Vulvovaginitis due to secondary inoculation results from blood borne or contact inoculation of the vagina with pathogens infecting other areas of the body (e.g., urinary tract infection, upper respiratory tract infection) Specific vulvovaginitis is primary infection by such organisms as Neisseria gonorrhoeae, Bacterial vaginosis, Treponema pallidum, and herpes simplex The vaginal discharge (mucopurulent or purulent) from acute vulvovaginitis may be minimal or profuse If the thin mucous membrane of the vulva or vagina is denuded, there may be a bloodtinged appearance to the discharge The odor may be very foul The patient may experience only mild discomfort or severe perineal pruritus and burning, with itching so intense that the child scratches to excoriation with bleeding The inflamed area may burn when urine passes over it, suggesting urinary tract infection (UTI) when indeed the urinary tract is uninvolved In these cases, a clean-catch specimen cannot diagnose UTI because leukocytosis and contamination from the vagina are difficult to eliminate Examination of the perineal area reveals erythema or soreness that may be localized or extending to the anus and thighs A rectal examination is essential to evaluate the pelvic organs Vaginoscopy should be performed if the infection is recurrent or refractory to treatment, especially if a foul-smelling bloody discharge (associated with foreign body) is present The most common foreign body is toilet paper, although various small objects, such as beads and toys, can be found Radiographs are not reliable for diagnosis because most objects are not radiopaque Objects in the lower third of the vagina can be flushed out with warm saline or removed with bayonet forceps, but vaginoscopy is necessary to ensure that no objects remain higher Recurrent placement of foreign bodies is not unusual 536 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY VAGINAL BLEEDING The source of vaginal bleeding may be uterine (endometrial) in origin or localized to the vulva/vagina If bleeding is endometrial in origin, disorders of sexual maturation should be investigated Otherwise, such lesions as vulvovaginitis, foreign body, vulvar skin lesions, urethral prolapse, trauma, botryoid sarcoma, and adenocarcinoma of the cervix or vagina should be considered URETHRAL PROLAPSE When the urethral mucosa protrudes through the meatus, it forms a hemorrhagic, tender vulvar mass A short course of estrogen cream is therapeutic when there is no urinary retention and the mass is small If the mass is large or urinary retention is present (or both), surgical resection of the prolapsed tissue is required under anesthesia with postoperative urinary catheterization for 24 h TRAUMA Although most injuries to the genitalia of children are accidental, an index of suspicion must be maintained to avoid missing evidence of child abuse or sexual abuse The description of the accident should fit the injury produced Injury to the vulva usually results in hematoma formation that requires no specific therapy other than cold compresses, unless the urethra is obstructed or the hematoma is large and continuing to increase in size If the urethra is obstructed, the bladder must be drained, usually by the suprapubic approach A large hematoma should be incised and drained, with ligature of the bleeding points Continued bleeding necessitates packing with gauze for 24 h and prophylactic antibiotics Radiographs of the pelvis may be advisable to rule out fracture If the hymen is lacerated, bleeding may be minimal, but a penetrating injury must be suspected and vaginoscopy performed even if the patient is asymptomatic Although most vaginal injuries involve the lateral walls with little bleeding and little pain, a lesion extending to the vaginal vault requires pelvic exploration to rule out extension into the broad ligament or peritoneal cavity Small intravaginal hematomas require no therapy Large intravaginal hematomas should be incised and drained, with ligature of the bleeding point 556 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY TABLE 19-3 HISTOLOGIC TYPES OF BREAST CANCERa Type Infiltrating ductal (not specified) Medullary Colloid (mucinous) Tubular Papillary Invasive lobular Noninvasive Intraductal Lobular in situ All others % 70–80 5–8 2–4 1–2 1–2 6–8 4–6 2–3 2–3 Ͻ1 a After A.E Giuliano, The breast In Current Obstetric and Gynecologic Diagnosis and Treatment, 6th ed., M.L Pernoll and R.C Benson, eds Appleton & Lange, 1987 Unopposed estrogen may increase the risk for breast cancer, but the oncotic effect is not as well correlated as it is for endometrial carcinoma Oral contraceptives not appear to enhance the risk of breast cancer Most breast carcinoma arises from the epithelial lining of the breast ductal system If the origin of the cancer is the large or intermediate-sized ducts, it is termed ductal (ϳ90%); if it arises from the epithelium of the lobular terminal ducts, it is termed lobular Several histological subtypes of breast cancer have been identified (Table 19-3) However, 70%–80% are nonspecific infiltrating ductal carcinomas, and the histologic type has little bearing on prognosis, as projected by tumor staging Breast cancer is multicentric; (i.e., more than one malignant focus can be identified in the same breast in 40% of patients and in the opposite breast in ϳ2% of patients) There is a 5%–8% incidence of cancer occurring later in the opposite breast Breast cancer occurs in the upper outer quadrant in ϳ45% of cases, in the central zone (periareolar or subareolar) in ϳ25%, in the upper inner quadrant in ϳ15%, in the lower outer quadrant in ϳ10%, and in the lower inner quadrant in ϳ5% Lymphatic dissemination is the rule, with the axillary regional lymph nodes involved about twice as frequently as the internal mammary nodes Unfortunately, hematogenous spread of breast cancer frequently occurs, most CHAPTER 19 DISEASES OF THE BREAST 557 often to bone, liver, or lungs Nodal metastases are present in ϳ1% of patients with noninfiltrating cancers CLINICAL FINDINGS SCREENING The screening processes of self-examination, physician examination, and mammography are discussed in Chapter 17 SYMPTOMS AND SIGNS About 90% of breast abnormalities are discovered by the patient, and about 10% are found during a physical examination for other reasons The initial finding, in the great majority of breast cancers (66%), is a firm or hard, nontender, fixed mass with ill-defined margins (due to local invasion) In about 11%, a painful breast mass is the presenting sign Nipple discharge (9%), local edema (4%), nipple retraction (3%), and nipple crusting are the other usual presentations Initial symptomatology involving ulceration, itching, pain, enlargement, redness, or axillary adenopathy is infrequent SPECIAL CLINICAL FORMS OF BREAST CANCER Paget’s carcinoma accounts for 1%–3% of all breast cancers It usually occurs as a pruritic or burning eczematoid ulceration of the nipple, although the nipple may not be grossly involved, and nipple discharge is only occasionally present Paget’s carcinoma is a particular form of intraductal carcinoma arising in the main excretory ducts of the breast It usually is well differentiated and multicentric, with extension to the skin of the nipple or areola Although in about two thirds of patients the underlying carcinoma may be palpated, there is great danger that this lesion may be treated as a dermatologic lesion, with the usual risk of metastases and the harm of delaying treatment Inflammatory carcinoma is the most virulent type and accounts for ϳ3% of breast cancers It occurs as a rapidly enlarging, usually diffuse, and sometimes painful mass, with induration of the surrounding tissues The overlying skin is often red, warm, and possibly edematous due to infiltration of malignant cells in subdermal lymphatics The disease is rarely curable because metastases occur early and are widely distributed 558 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY Breast cancer during pregnancy or lactation accounts for only 1%–2% of all breast cancers and complicates approximately in 3000 pregnancies However, it is difficult to diagnose (secondary to the physiologic changes), and the overall survival rate is low when compared to nonpregnant rate Axillary metastases are present at diagnosis in 60%–70%, and for them the 5-year survival is 30%–40% However, if the cancer is confined to the breast, the 5-year survival is ϳ70% Delay posed by pregnancy and lactation must be avoided to preserve the mother’s life LABORATORY FINDINGS With extensive metastases, expect an elevated sedimentation rate Hypercalcemia is a frequent observation in advanced breast cancers Liver or bone metastases cause elevated alkaline phosphatase levels Carcinoembryonic antigen (CEA) may serve as a marker for recurrent breast cancer CA153 may be a useful marker in monitoring pregnant breast cancer patients MAMMOGRAPHY AND OTHER IMAGING TECHNIQUES Mammography has greatly increased the diagnosis of small, even occult, cancers (see also Chapter 16) Mammography may identify some breast cancers up to years before they reach palpable size The primary limitations of mammography are that it may not reveal clinical cancer in a very dense breast (e.g., the young woman with mammary dysplasia) and that it may not reveal medullary type cancer The indications for mammography are summarized in Table 19-4 Recent studies indicate that MRI may play a useful role in the cases where mammography is limited Because of the incidence of early metastases, radiographs of the chest, lumbar spine, pelvis, and skull should be part of a breast cancer workup Additionally, bone scans may be necessary in some cases and may be a part of follow-up Ultrasound scanning may be useful in visualizing palpable focal masses in women Ͻ30 years (thus reducing the need for radiation) Ultrasound is also helpful in the differentiation of cystic from solid masses and in demonstrating potentially malignant solid tissue adjacent to or within a cyst CHAPTER 19 DISEASES OF THE BREAST 559 TABLE 19-4 INDICATIONS FOR MAMMOGRAPHY ● ● ● ● ● ● To screen at regular intervals (see Chapter 17) To assess a questionable or ill-defined breast mass or other suspicious breast change To evaluate each breast at intervals when a diagnosis of potentially curable breast cancer has been made To search for an occult breast cancer from an unknown primary in women with metastatic disease in the axillary nodes or elsewhere To appraise women with large breasts that are difficult to examine To reassure women with cancerophobia DIFFERENTIAL DIAGNOSIS The differential diagnosis of breast cancer includes (in decreasing order of frequency) fibrocystic breast disease, fibroadenoma, intraductal papilloma, duct ectasia, and fat necrosis SPECIAL PRETHERAPY WORKUP BIOPSY The definitive diagnosis of cancer requires analysis of tissue Thus, mammography cannot be a substitute for biopsy The indications for breast biopsy include a persistent breast mass, bloody nipple discharge, exzematoid nipple changes, and suspicious or positive mammography results About 30% of cases considered strongly suggestive of cancer will be found to be benign on biopsy In contrast, about 15% of abnormal foci thought to be benign will be diagnosed as malignant on biopsy Needle biopsy (under local anesthesia) may be used to aspirate tumor cells or obtain a small tissue core False-negative needle biopsies occur in 15%–20% of cancers Open biopsy is more conclusive and preferably is performed as a separate procedure (often under local anesthesia) before definitive therapy, and there has been no demonstrable adverse effect from a 1–2 week delay Occasionally, when mastectomy is contemplated for a very suspicious lesion, the 560 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY TABLE 19-5 INDICATIONS FOR OPEN BREAST BIOPSY ● ● ● ● Suspicious mammographic abnormalities Clinically suspicious mass, regardless of mammographic findings A cystic mass that does not completely collapse on aspiration or contains bloody fluid Serous or serosanguineous nipple discharge that is not galactorrhea open biopsy may be assessed by frozen section and definitive therapy immediately performed under the same anesthetic The indications for open breast biopsy are summarized in Table 19-5 HORMONE RECEPTOR SITE ANALYSIS Estrogen and progesterone receptor assays are usually obtained at the time of initial diagnosis This information is valuable for hormonal management of patients with recurrent or metastatic disease and may even provide some prognostic assistance For example, with recurrence or metastases, ϳ60% of patients with estrogen receptors in their original cancers will respond to hormone therapy, whereas Ͻ10% of estrogen receptor-negative patients will respond Patients with estrogen receptors in their tumors have a more favorable course following mastectomy than those with estrogen receptor-negative tumors Postmenopausal patients have a higher incidence of estrogen receptor-positive tumors (ϳ60%) than premenopausal patients (ϳ30%) The synthesis of progesterone receptors is estrogen-dependent, and progesterone receptors have been found in ϳ40% of estrogen receptor-positive tumors When both types of receptors are present, ϳ80% of patients with recurrent or metastatic disease respond to hormone therapy There is no significant relationship between hormone receptor site activity and chemotherapy responsiveness STAGING Clinical and histologic staging are of great prognostic significance and are used in designing the treatment plan Table 19-6 details staging and crude 5-year survival CHAPTER 19 DISEASES OF THE BREAST 561 TABLE 19-6 CLINICAL AND HISTOLOGIC STAGING OF BREAST CARCINOMA AND RELATION TO SURVIVAL Clinical Staging (American Joint Committee) Crude 5-year Survival (%) Stage I Tumor Ͻ2 cm in diameter Nodes, if present, not believed to contain metastases Without distant metastases Stage II Tumor Ͻ5 cm in diameter Nodes, if palpable, not fixed Without distant metastases Stage III Tumor Ͼ5 cm or Tumor any size with invasion of skin or attached to chest wall Nodes in supraclavicular area Without distant metastases Stage IV With distant metastases 85 66 41 10 Crude Survival (%) Histologic Staging All patients Negative axillary lymph nodes Positive axillary lymph nodes 1–3 positive axillary lymph nodes Ͼ4 positive axillary lymph nodes years 10 years 63 78 46 62 32 46 65 25 38 13 SOURCE: From A.E Giuliano In Current Obstetric and Gynecologic Diagnosis and Treatment, 7th ed M.L Pernoll, ed Appleton & Lange, 1991 562 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY TREATMENT Direct therapeutic options include surgery, radiation therapy, chemotherapy, endocrine therapy, and combinations of these methods SURGERY The major surgical procedures and the extent of each are summarized in Table 19-7 Radical mastectomy, which is effective for local control of cancer, is disfiguring Moreover, it may not offer an advantage over less radical surgery combined with radiation therapy Following any of the more radical surgeries, physical therapy is advisable, principally to limit edema of the arm Additionally, incision placement, tissue volume removal, and nodal removal are critical determinants of cosmetic and functional outcomes The BRCA founder mutation is not an independent predictor of survival The mutation status should not influence decisions regarding adjuvant therapy However, those with TABLE 19-7 SUMMARY OF SURGICAL TREATMENTS FOR BREAST CANCER Procedure Extent of Surgery Radical mastectomy En bloc removal of the breast, pectoral muscles, and axillary nodes In addition to the above also includes the internal mammary nodes En bloc removal of the breast, underlying pectoralis major fascia (but not muscle), and axillary lymph nodes Removal of the entire breast Removal of the area involved, e.g., partial mastectomy, quadrant excision, or lumpectomy (often combined with axillary node sampling) Extended radical mastectomy Modified radical mastectomy Simple mastectomy Segmental mastectomy CHAPTER 19 DISEASES OF THE BREAST 563 BRCA founder mutations are at increased risk for breast cancer after breast conservation RECENT THERAPEUTIC DIRECTIONS Conservative surgical therapy for breast cancer, often characterized as “lumpectomy” and adjuvant therapy (may include radiation and/or chemotherapy), is now accepted as a portion of the therapeutic armamentarium Ipsilateral breast cancer recurrence in the 10 years following conservative surgery and radiation for early stage invasive cancer is ϳ15% This is even higher if the original surgical excision has positive margins Thus, optimal local control of early invasive breast cancer maximizes long-term survival Tamoxifen is currently the most important anti-breast cancer drug in clinical use and also has the potential to be an important chemopreventive breast cancer agent The long-term usage side effects include approximately 50% of women having adverse endometrial effects The benign effects include: extensive endometrial senile cystic atrophy, endometrial hyperplasia, and endometrial polyps The malignant effect is that tamoxifen doubles the risk for developing endometrial cancer in postmenopausal women This worrisome effect is time of use dependent Fortunately, screening patients with breast cancer for endometrial abnormalities while they are taking tamoxifen is readily accomplished (e.g., outpatient hysteroscopy) and can assist in prevention of both benign and malignant side effects Currently, if long-term tamoxifen is planned, the following endometrial screening may prove prudent ● ● ● ● Pretreatment uterine assessment is accomplished by transvaginal sonography and/or outpatient hysteroscopy Symptom-free women with normal pretreatment uterine cavity should undergo annual screening with transvaginal sonography (some indicate this may be initiated from 2–3 years after onset of treatment) The only acceptable transvaginal sonographic finding is a thin rectilinear endometrium Hysteroscopy or saline infusion sonography should be utilized for evaluation of any endometrial symptoms or any transvaginal sonographic abnormality (including endometrial thickening) The management of early non-high-grade breast cancer in the elderly by complete local excision and tamoxifen alone has been utilized The rationale for this approach is that standard therapy for younger women (axillary dissection, radiotherapy, and chemotherapy) 564 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY has a morbidity that may not be well tolerated in the elderly (Ͼ70 years) Yet ϳ30% of all breast cancers occur in elderly women Therefore, a more conservative approach for early non-high-grade breast cancers may avoid axillary dissection and radiotherapy Preliminary results appear promising, and further study may lead to wider application of this, or a variant of this, conservative management Some advocate prophylactic mastectomy for women with BRCA1 or BRCA2 gene mutations The rationale for this approach is that the current level of screening technology and the rudimentary state of chemoprevention not assure that breast cancer will be detected at an early, curable stage in young women Prophylactic mastectomy is usually combined with cosmetic reconstruction Certainly, careful discussion of all options is essential in management of these high-risk patients Further study will likely establish or deny the validity of this aggressive prophylaxis Other potentially useful procedures includes sentinel node biopsy The rationale is that breast cancer metastasizing through the lymphatics will initially reach one or a few nodes in the corresponding lymph basin Thus, the status of these nodes will predict the status of all the other nodes in the basin The nodes are detected by dye or radioactivity injected about the tumor Several studies have validated the concept Detection rates of 66%–100% and false-negative rates of 0%–17% have been reported Obviously, before recommended for widespread clinical use, false-negative rates of no more than 2%–3% should be achieved Although not yet recommended for cancer, recent studies have reported beneficial experience with endoscopic extirpation of benign breast tumors via an extramammary incision RADIATION THERAPY Although initially radiation therapy was used after surgery when the axillary nodes were positive, it is now increasingly employed as part of primary therapy for small tumors in conjunction with segmental mastectomy and axillary node sampling For patients with small primary tumors, less than total mastectomy combined with radiotherapy may be as effective as the more radical operations Usually 4500–5000 rad are delivered by external beam to the breast and anterior chest wall (including the internal mammary chain) If lymph nodes are positive, the ipsilateral supraclavicular and axillary nodes also are irradiated When more radiation is necessary to a localized area, the site may be enhanced with interstitial iridium-192 Major complications of such therapy (arm edema CHAPTER 19 DISEASES OF THE BREAST 565 or weakness, radiation pericarditis, and soft tissue necrosis) occur in ϳ2% of patients CHEMOTHERAPY Overall, ϳ75% of patients with breast cancer succumb in Ͻ10 years Thus, the assumption holds that many patients with breast cancer already have disseminated disease at the time of diagnosis Therefore, chemotherapy is used as an adjunct to initial therapy, with the objective of eliminating occult metastases responsible for late recurrences There are several regimens currently used and still others under investigation Such adjuvant chemotherapy improves survival (ϳ20%) and lengthens the disease-free interval in premenopausal women, especially those with one to three positive nodes The effect in postmenopausal women is less beneficial ENDOCRINE THERAPY In the past, oophorectomy, adrenalectomy, and hypophysectomy were used to decrease or eliminate estrogen stimulation of breast cancer, especially in postmenopausal women Although, the last two procedures have largely been abandoned, oophorectomy is still often used to reduce estrogen exposure of the tumor in premenopausal women However, tamoxifen (an antiestrogen) is rapidly becoming the most commonly used agent in endocrine therapy Overall, about one third of patients respond, but the response with estrogen receptors in the tumor is ϳ60%, and with both estrogen and progesterone receptors, the response is ϳ80% By contrast, only 5%–10% of receptor-negative tumors respond to tamoxifen therapy PSYCHOLOGIC THERAPY The psychological impact of breast cancer merits sensitive and thoughtful attention during workup, therapy and follow-up Up to 80% of breast cancer patients report significant distress even during initial treatment Psychological factors may heavily influence patient’s participation in treatment decision-making, having a treatment choice, and post-treatment satisfaction Body image is an example of a specific area warranting exploration Although patients may participate in treatment decision-making based on survival, satisfaction with body image may be disturbed by surgery Cancer patients uniformly evidence an improvement in mood, coping, and adjustment as a result of psychotherapeutic intervention Group psychotherapy (workshop participation, treatment manual, and explanatory videotapes) for recently diagnosed breast cancer patients 566 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY has been demonstrated to reduce distress among breast cancer patients Additionally, stress-coping frameworks assist in addressing quality of life: person (demographics, current concerns, and optimism), social resources (family functioning, necessary assistance), illness-related factors (symptom distress, medial characteristics), appraisal of illness, and quality of life Finally, current health behaviors and readiness to pursue life-style changes merit consideration The importance of full discussion by care providers regarding the rationale of therapy and its cosmetic and emotional effects cannot be over-emphasized Reconstructive surgery as well as prosthetics must be considered Support groups (e.g., The Service Committee of the American Cancer Society’s program Reach to Recovery) may also be very useful ALTERNATIVE THERAPY Alternative therapy, often uninitiated by and unknown to those responsible for the breast cancer care, is rapidly increasing in the United States Indeed, ϳ50% of women with breast cancer use at least one type of alternative therapy and about one third used two types Although, most therapies are used for Ͻ6 months, the type used is influenced by ethnicity Blacks (36%) most often use spiritual healing Caucasians use dietary methods (35%) and physical methods (e.g., massage, acupuncture—21%), whereas Chinese (22%) most often use herbal remedies Latinos most often use dietary therapies (30%) and spiritual healing (26%) Thus, those caring for breast cancer patients should initiate dialogues with their patients concerning the alternative therapies they may be employing CURRENT THERAPY SUMMARY Although breast cancer therapy is currently in transition and several crucial conclusions are not available, certain guidelines are useful Potentially curable lesions may be treated by partial mastectomy plus axillary lymphadenectomy and radiation therapy or by modified radial mastectomy If in the premenopausal patient axillary nodes are involved, adjuvant chemotherapy is prudent Radical mastectomy should be reserved for cases of advanced local disease with tumor invading the pectoralis muscle Extended radical mastectomy is justified for patients with medial lesions without signs of distant spread Receptor-positive breast cancers may benefit from endocrine therapy CHAPTER 19 DISEASES OF THE BREAST 567 FOLLOW-UP CARE OBJECTIVES Follow-up care should be lifelong and has two objectives: to detect recurrence(s) and to observe the other breast for evidence of carcinoma BREAST SELF-EXAMINATION, PHYSICIAN EXAMINATIONS, AND MAMMOGRAPHY Every month, the patient should examine her own breast(s) Mammography should be obtained annually or when any change is detected During the first years, when metastases are most likely, physician examinations are performed every 3–4 months Between and years, examination is performed every months After years, examinations are continued at 6–12 month intervals Women heterozygous for BRCA founder mutations require even more vigilant surveillance for they are at increased risk for contralateral breast cancer TUMOR MARKERS In brief, tumor markers are neither sensitive nor specific enough for early diagnosis of malignancy, but may be useful in postsurgical follow-up However, there is no unanimity concerning which tumor markers should be used in a panel for follow-up of breast cancer patients Most recently, it appears that Ca 153 and Ca 27-29 have better correlation with clinical course of breast cancer than CEA and MCA, but obviously this is an area of intense investigation ESTROGEN OR PROGESTERONE AFTER BREAST CANCER The use of estrogen or progestational agents in women free of disease after primary breast cancer therapy remains controversial, particularly if the primary cancer was hormone receptor positive However, recent evidence indicates that this is not the risk previously thought and that hormonal replacement may, in some instances, be undertaken Additionally, there is no evidence that estrogen replacement therapy increases the risk of invasive breast cancer in women with previous benign breast disease 568 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY One of the difficulties posed by hormone replacement therapy is mammographic density changes, which confound interpretation and detection of small lesions These density changes are more prevalent with certain hormone(s): estrogen plus cyproterone acetate (46%), estrogen plus medroxyprogesterone acetate (43%), tibolone users (28%), and estrogen alone (18%) Formation of breast cysts or solid tumors does not seem related to any of the hormone replacement regimens PREGNANCY AFTER BREAST CARCINOMA Pregnancy following treatment of breast carcinoma carries less risk than previously indicated Currently, particularly in stage II or I cases, some authorities are recommending deferring pregnancy for at least years If a complete evaluation is negative at that point and the patient is knowledgeable concerning the risks, pregnancy may be undertaken It has been suggested that such a protocol does not enhance the chance of death from breast carcinoma It seems prudent to individualize recommendations for hormonal replacement therapy or pregnancy after breast cancer following consultation with the team caring for the patient and perhaps with oncology centers PROGNOSIS The mortality rate for breast cancer patients exceeds that for agematched controls by nearly 20 years Thus, 5-year follow-up information is less useful than in other tumors, and 10-year surveillance is necessary Survival is most reliably correlated with the stage of breast cancer (Table 19-6) If the disease is localized to the breast, without regional spread (by microscopic analysis), 5-year survival may approach 90% When breast cancer involves the axillary nodes, the 5-year cure rate is 40%–60%, and the 10-year clinical cure rate is only ϳ25% Other possible beneficial correlations to survival include presence of estrogen and progesterone receptors and older age (breast cancer seems to be more malignant in younger women) The least favorable anatomic site for breast cancer is the median portion of the inner lower quadrant Survival after breast carcinoma is significantly worse among African American women African American women are significantly younger at the time of diagnosis, are more likely to present CHAPTER 19 DISEASES OF THE BREAST 569 with advanced stage breast carcinoma, are more likely to have inflammatory, medullary and papillary histologic tumor types, and are less likely to have estrogen or progesterone receptor positive tumors Despite these differences, race remains an independent predictor of breast carcinoma survival This page intentionally left blank ... sex characteristics develop (pubic and axillary hair), the body becomes more rounded, and the adolescent growth spurt begins CHAPTER 18 PEDIATRIC AND ADOLESCENT GYNECOLOGY 529 GYNECOLOGIC EXAMINATION... PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY FIGURE 18-1 Congenital uterine abnormalities (From B Pensky, Review of Medical Embryology Macmillan, 1982.) CHAPTER 18 PEDIATRIC AND ADOLESCENT GYNECOLOGY. .. LH, and estradiol) are often useful 544 BENSON & PERNOLL’S HANDBOOK OF OBSTETRICS AND GYNECOLOGY Complete workup and differential studies are described in Chapter 25 PREGNANCY IN CHILDREN AND ADOLESCENTS