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12p13 rearrangements (ETV6) in treatment related leukemia

Written2003-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1301
Note This data is extracted from a very large study from an International Workshop on treatment related leukemias - restricted to balanced chromosome aberrations (i.e.: -5/del(5q)and -7/del(7q) not taken into account per see), published in Genes,Chromosomes and Cancer in 2002.

Clinics and Pathology

Disease Treatment related myelodysplasia (t-MDS) or acute myeloid leukaemias (t-AML)
Note The study included 9 cases; t-MDS without progression to AML accounted for 2 of 9 cases, t-MDS with progression to AML for 1 case and t-AML for the remaining 6 cases; no case of acute lymphoblastic leukaemia
Epidemiology 12p13 rearrangements were found in 2% of t-MDS/t-AML; sex ratio: 5M/4F
Clinics Age at diagnosis of the primary disease 40 yrs (range 11-64); age at diagnosis of the t-MDS/t-AML: 48 yrs (range 25-69). Median interval was relatively long: 81 mths (range: 18-223). Primary disease was a solid tumor in only 2 of 9 cases, and a hematologic malignancy in 7/9; treatment was chemotherapy (3/9), or both (6/9). Treatment included topoisomerase II inhibitors in 5 of 9 cases and alkylating agents in 8/9.
Prognosis Median survival was very poor: 4 mths, with 15% of patients surviving at 1 yr, and none at 2 yrs.


Additional anomalies 12p13 rearrangements included: t(1;12)(q21;p13), t(4;12)(q12;p13), t(7;12)(p15;p13), t(8;12)(p12;p13), t(12;20)p13;q11),and t(12;22)(p13;q11) ID: t(12;22)(p13;q11)> and other rearrangements. Complex karyotypes were found in 7 of 9 cases; -7/del(7q) and/or were found in 6 of 9 cases.

Result of the chromosomal anomaly

Hybrid gene
Description 5' ETV6 -3¹ partner where ETV6 is known to be involved


Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.
Block AW, Carroll AJ, Hagemeijer A, Michaux L, van Lom K, Olney HJ, Baer MR
Genes, chromosomes & cancer. 2002 ; 33 (4) : 401-412.
PMID 11921274


This paper should be referenced as such :
Huret, JL
12p13 rearrangements in treatment related leukemia
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):17-17.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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