| Written | 2000-04 | Nick CP Cross |
| Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury, SP2 8BJ, UK |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| ICD-Morpho | 9811/3 B lymphoblastic leukaemia/lymphoma, NOS |
| ICD-Morpho | 9837/3 T lymphoblastic leukaemia/lymphoma |
| ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
| ICD-Morpho | 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable |
| ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
| Atlas_Id | 1204 |
| Clinics and Pathology |
| Disease | chronic myelogenous leukemia (CML) in transformation, myelodysplastic syndrome (MDS), acute non lymphocytic leukemai (AML), B and T- acute lymphocytic leukemias (ALL) |
| Cytogenetics |
| Additional anomalies | no consistent additional abnormalities |
| Genes involved and Proteins |
| Gene Name | ETV6 (ets variant 6) |
| Location | 12p13.2 |
| Gene Name | CDX2 (caudal-related homeobox 2) |
| Location | 13q12.2 |
| To be noted |
| The t(12;13) is heterogeneous at the molecular level. A single case of AML has been reported with an ETV6-CDX2 fusion and ectopic expression of normal CDX2 but in the same study two other t(12;13) positive AML patients did not have CDX2 involvement. FISH analysis has suggested that the chromosome 13 breakpoints are different in myeloid and lymphoid disease. ETV6 seems to be involved in some cases but not others. Additional cases with charaterization of the genes involved in the translocation, are therefore needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Fusion of ETV6 to the caudal-related homeobox gene CDX2 in acute myeloid leukemia with the t(12;13)(p13;q12). |
| Chase A, Reiter A, Burci L, Cazzaniga G, Biondi A, Pickard J, Roberts IA, Goldman JM, Cross NC |
| Blood. 1999 ; 93 (3) : 1025-1031. |
| PMID 9920852 |
| Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia. |
| Coignet LJ, Lima CS, Min T, Streubel B, Swansbury J, Telford N, Swanton S, Bowen A, Nagai M, Catovsky D, Fonatsch C, Dyer MJ |
| Genes, chromosomes & cancer. 1999 ; 25 (3) : 222-229. |
| PMID 10379868 |
| Duplication of the der(13)t(12;13)(p13;q14) in chronic myelomonocytic leukemia. |
| Fugazza G, Cerri R, Bruzzone R, Patrone F, Sessarego M |
| Haematologica. 1997 ; 82 (3) : 336-337. |
| PMID 9234584 |
| Molecular delineation of 13q deletion boundaries in 20 patients with myeloid malignancies. |
| La Starza R, Wlodarska I, Aventin A, Falzetti D, Crescenzi B, Martelli MF, Van den Berghe H, Mecucci C |
| Blood. 1998 ; 91 (1) : 231-237. |
| PMID 9414289 |
| New recurring chromosomal translocations in childhood acute lymphoblastic leukemia. |
| Raimondi SC, Privitera E, Williams DL, Look AT, Behm F, Rivera GK, Crist WM, Pui CH |
| Blood. 1991 ; 77 (9) : 2016-2022. |
| PMID 2018838 |
| Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with AML or MDS and abnormalities of the short arm of chromosome 12. |
| Streubel B, Sauerland C, Heil G, Freund M, Bartels H, Lengfelder E, Wandt H, Ludwig WD, Nowotny H, Baldus M, Grothaus-Pinke B, Büchner T, Fonatsch C |
| British journal of haematology. 1998 ; 100 (3) : 521-533. |
| PMID 9504635 |
| Reciprocal translocation t(12;13)(p13;q14) in acute nonlymphoblastic leukemia: report and cytogenetic analysis of two cases. |
| Tosi S, Stilgenbauer S, Giudici G, Capalbo S, Specchia G, Liso V, Castagna S, Lanzi E, Lichter P, Biondi A |
| Cancer genetics and cytogenetics. 1994 ; 77 (2) : 106-110. |
| PMID 7954318 |
| Fluorescence in situ hybridization characterization of new translocations involving TEL (ETV6) in a wide spectrum of hematologic malignancies. |
| Wlodarska I, La Starza R, Baens M, Dierlamm J, Uyttebroeck A, Selleslag D, Francine A, Mecucci C, Hagemeijer A, Van den Berghe H, Marynen P |
| Blood. 1998 ; 91 (4) : 1399-1406. |
| PMID 9454771 |
| Citation |
| This paper should be referenced as such : |
| Cross, NCP |
| t(12;13)(p12;q12-14) |
| Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):78-79. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1213ID1204.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Genes | CDX2 | ETV6 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(12;13)(p12;q12) ETV6/CDX2 | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Oct 12 18:21:55 CEST 2018 |
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