A–Z of Haematology - part 1 pptx

[...]... forming AML1EAP, AML1-EVI1 and AML-MDS1 • part of ETV6 to form a fusion gene, ETV6-AML1 (TEL-AML1), detected in about 30% of cases of acute lymphoblastic leukaemia, associated with a cryptic t (12 ; 21) (p13;q22) • part of MTG16 to form a fusion gene, AML1-MTG16, mainly in secondary acute myeloid leukaemia/ myelodysplastic syndrome associated with t (16 ; 21) (q24;q22) • part of USP25 to form an AML1USP25 in... disaccharides -2 -L-fucosyltransferase (encoded by H allele of FUT1 gene) H -3 -N-acetyl D galactosylaminyltransferase (encoded by A1 allele* at the ABO locus) -3 -D galactosyltransferase (encoded by B allele at the ABO locus) A (b) Locus B Allele Transferase H -2 -L-fucosyltransferase h nil A -3 -N-acetyl-Dgalactosaminyltransferase B -3 -D galactosyltransferase O nil FUT1 ABO Table 1 Genotypes and... elastase, IL3 and the T-cell receptor enhancer: • part of AML1 fuses with part of the ETO gene at 8q22 in M2 acute myeloid leukaemia associated with t(8; 21) (q22;q22), forming AML1-ETO; AML1-ETO appear to act as a dominant negative inhibitor of AML1 • part of the EAP, EVI1 and MDS1 genes at 3q26 in t(3; 21) (q26;q22) in association with acute myeloid leukaemia and blast transformation of myeloproliferative... AF5q 31 a gene, ALL1 Fusion gene from chromosome 5q 31, gene map locus 5q 31, encodes a homologue of AF4, contributed to an MLL-AF5q 31 fusion gene in an infant with pro-B acute lymphoblastic leukaemia and ins(5 ;11 )(q 31; q13q23) and an MLL-AF5q 31 fusion in other infants with acute lymphoblastic leukaemia AF6q 21 a gene, ALL1 Fusion gene from chromosome 6q 21, also known as FKHRL1—Forkhead in Rhabdomyosarcoma-Like... AF15q14 a gene, ALL1 Fusion gene from chromosome 15 q14, gene map locus 15 q14, encoding a protein with no known homologies, that contributed to a MLLAF15q14 fusion gene in a patient with acute myeloid leukaemia associated with t (11 ;15 )(q23;q14) AF17 a gene, ALL1 Fusion gene from chromosome 17 ; also known as MLLT6—Myeloid/Lymphoid or Mixed Lineage Leukaemia, Translocated to, 6; gene map locus 17 q 21; ... (ALL) Table 4 The WHO classification of acute myeloid leukaemia (AML) Acute myeloid leukaemia with recurrent genetic abnormalities* AML with t(8; 21) (q22;q22)/AML1-ETO fusion AML with abnormal bone marrow eosinophils and inv (16 )(p13q22) or t (16 ; 15 )(p13;q22)/CBFB-MYH 11 fusion Acute promyelocytic leukaemia with t (15 ; 17 )(q22;q12)/PML-RARA fusion, and variants AML with 11 q23 rearrangement and MLL abnormality... to an MLL-AF9q34 fusion gene in a case of acute myeloid leukaemia associated with t(9 ;11 )(q34;q23) AF10 a gene, ALL1 Fused gene from chromosome 10 , gene map locus 10 p12; encodes a widely expressed leucine zipper/ zinc finger protein; AF10 contributes to: • the MLL-AF10 fusion gene in t (10 ;11 )(p12;q23) associated with M5 acute myeloid leukaemia and acute lymphoblastic leukaemia; • a CALM-AF10 fusion... syndrome • AML1 has also been found to be rearranged in the following translocations associated mainly with secondary myelodysplastic syndromes (following cytotoxic chemotherapy or irradiation) or acute myeloid leukaemia t (1; 21) (p36;q22) (irradiation associated) t(5; 21) (q13;q22) t (12 ; 21) (q24;q22) t (14 ; 21) (q22;q22) t (15 ; 21) (q22;q22) t (18 ; 21) (q 21) (q22) (irradiation associated) t (19 ; 21) (q13.4;q22) (irradiation... to the RanBP2-ALK fusion gene in inflammatory myofibroblastic tumours with t(2;2)(p23;q1 1- 1 3) or inv(2)(p23q1 1- 1 3) • contributes to one of two TFG-ALK fusion genes (TFG-ALKS and TFGALKL) in occasional cases of anaplastic large cell lymphoma associated with t(2;3)(p23;q 21) • is likely to be rearranged in t(2 ;13 )(p23;q34) associated with anaplastic large cell lymphoma • contributes to the CLTC-ALK fusion... gene map locus 1q 21, which contributes to the MLL-AF1q fusion gene in some cases of M4 acute myeloid leukaemia; AF1q encodes a nuclear protein, the expression of which is usually restricted to the thymus 10 AF3p 21 AF3p 21 a gene, ALL1 Fusion gene AF7p15 a gene, ALL1 Fusion gene from from chromosome 3p 21, also known as SPIN90—SH3 Protein Interacting with Nck, 90-KD; gene map locus 3p 21, encoding an SH3 . cm. ISBN 1- 4 0 51 0-3 2 2 -1 1. Hematology—Dictionaries. [DNLM: 1. Hematology—Dictionary—English. WH 13 B162a 2003] I. Title. RB145 .B245 2003 616 .15 ’003—dc 21 2002007250 ISBN 1- 4 05 1- 0 32 2 -1 A catalogue. map locus 10 p 11. 2, which contributes to the MLL-ABI1 fusion gene in M4 acute myeloid leukaemia associated with t (10 ;11 )(p 11. 2;q23); ABI1 encodes spec- trin SH3 domain-binding protein 1, which 2 α heavy. 21) (q22;q22)/AML1-ETO fusion AML with abnormal bone marrow eosinophils and inv (16 )(p13q22) or t (16 ; 15 )(p13;q22)/CBFB-MYH 11 fusion Acute promyelocytic leukaemia with t (15 ; 17 )(q22;q12)/PML-RARA fusion,