| Clinics and Pathology |
| Disease | Acute lymphoblastic leukaemia (ALL) |
| Note | Identical or similar translocations have been reported rarely in acute myeloid leukemia (AML) and acute mixed lineage leukaemia ( t(12;17)(p13;q11-21) in AML ). |
| Phenotype / cell stem origin | Most reports indicate an early pre-B immunophenotype, frequently characterised by low CD10 and positivity of the myeloid marker CD33. |
| Epidemiology | Rare; non-random translocation that predominantly occurs in children and young adults. No definable sex bias. |
| Prognosis | Early reports suggested that prognosis may be poor, but there are currently too few reported cases to define a robust association. |
| Cytogenetics |
| Cytogenetics Morphological | The chromosome 17q breakpoint has been defined in different reports to be between q11-q21. The chromosome 12 breakpoint has been confirmed to be located in 12p13 telomeric to the ETV6/TEL locus. The translocation occurs as the sole or primary event in approximately 50% of cases |
| Additional anomalies | No consistent picture and only +21 has been reported in more than one case. |
| Genes involved and Proteins |
| Note | Breakpoint on 12p13 telomeric to TEL. Currently the genes involved on both chromosome 12 and 17 are unidentified. |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| t(12;17)(p13;q21) in early pre-B acute lymphoid leukemia. |
| Krance RA, Raimondi SC, Dubowy R, Estrada J, Borowitz M, Behm F, Land VJ, Pullen J, Carroll AJ |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1992 ; 6 (4) : 251-255. |
| PMID 1534130 |
| Translocation (12;17)(p11-12;q11-12): a recurrent primary rearrangement in acute leukemia. |
| Liu HW, Wan SK, Ching LM, Liang R, Chan LC |
| Cancer genetics and cytogenetics. 1992 ; 64 (1) : 27-29. |
| PMID 1458446 |
| Fluorescence in situ hybridization analysis of the cryptic t(12;21) (p13;q22) in childhood B-lineage acute lymphoblastic leukemia. |
| Yehuda-Gafni O, Cividalli G, Abrahmov A, Weintrob M, Neriah SB, Cohen R, Abeliovich D |
| Cancer genetics and cytogenetics. 2002 ; 132 (1) : 61-64. |
| PMID 11801311 |
| A t(12;17)(p13;q12) identifies a distinct TEL rearrangement-negative subtype of precursor-B acute lymphoblastic leukemia. |
| Reid AG, Seppa L, von der Weid N, Niggli FK, Betts DR |
| Cancer genetics and cytogenetics. 2006 ; 165 (1) : 64-69. |
| PMID 16490598 |
| Contributor(s) |
| Written | 04-2006 | David Betts |
| Citation |
| This paper should be referenced as such : |
| Betts D . t(12;17)(p13;q11-21) in ALL. Atlas Genet Cytogenet Oncol Haematol. April 2006 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1217p13q21ALLID1072.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:13:09 2008 |
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