12p13 rearrangements (ETV6) in treatment related leukemia

2003-10-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Treatment related myelodysplasia (t-MDS) or acute myeloid leukaemias (t-AML)


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


12p13 rearrangements were found in 2% of t-MDS/t-AML; sex ratio: 5M/4F


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.


Median survival was very poor: 4 mths, with 15% of patients surviving at 1 yr, and none at 2 yrs.

Result of the Chromosomal Anomaly


5 ETV6 -3¹ partner where ETV6 is known to be involved


Pubmed IDLast YearTitleAuthors
119212742002Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.Block AW et al



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.


Jean-Loup Huret

12p13 rearrangements (ETV6) in treatment related leukemia

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1301/12p13-rearrangements-(etv6)-in-treatment-related-leukemia