inv(16)(p13q22) CBFB/MYH11 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 48 cases; t-MDS without progression to AML accounted for 8%, t-MDS with progression to AML for 13% and t-AML for the remaining 79% the AML subtype was M4eo in 83%, M2 in 14%; no case of acute lymphoblastic leukaemia


inv(16)(p13q22) was found in 9% of t-MDS/t-AML; sex ratio: 18M/30F


Age at diagnosis of the primary disease 43 yrs (range 6-75); age at diagnosis of the t-MDS/t-AML: 48 yrs (range 13-77). Median interval was short: 22 mths (range: 8-533). Primary disease was a solid tumor in 71% of cases (in particular breast cancer, sarcoma, cancer of the ovary) and a hematologic malignancy in 27%, treatment was radiotherapy (21%, a relatively high proportion compared to other groups), chemotherapy (29%), or both (50%). Treatment included topoisomerase II inhibitors in 60% of cases and alkylating agents in 63%.


Patients under 55 yrs of age had better outcome. Median survival was 29 mths, with 45% of patients surviving at 5 yrs, the best survival among subgroups of treatment related leukemias with a balanced chromosome aberration (patients with 11q23 rearrangement, 3q21q26 rearrangement, 12p13 rearrangement, t(9;22), t(8;16), or a 21q22 rearangement)). Patients with t(15;17) had similar median survival, but less long term survivors.

Result of the Chromosomal Anomaly


5CBFB -3¹ MYH11


Pubmed IDLast YearTitleAuthors
119212732002Balanced chromosome abnormalities inv(16) and t(15;17) in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.Andersen MK et al


Fusion gene

CBFB/MYH11 CBFB (16q22.1) MYH11 (16p13.11) M ins(16)(q22p13p13) ins(16;16)(q22;p13p13) inv(16)(p13q22) t(16;16)(p13;q22)|CBFB/MYH11 CBFB (16q22.1) MYH11 (16p13.11) TIC


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.
Atlas Image
inv(16)(p13q22) CBFB/MYH11  and t(16;16)(p13;q22) CBFB/MYH11 Top: inv(16) FISH and diagram - Courtesy Hossein Mossafa; Middle Left: first row: inv(16)(p13q22) G-banding - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services; second row - Courtesy Hossein Mossafa; Middle Right: t(16;16)(p13;q22) u2013 Courtesy Adriana Zamecnikova; Bottom: Fluorescence in situ hybridization with the Vysis LSI CBFB break apart probe (Abbott Molecular, US) showing disruption of the gene as a result of (A) inv(16) and (B) its translocation to der(16) as a result of t(16;16) u2013 Courtesy Adriana Zamecnikova - Courtesy Adriana Zamecnikova.


Jean-Loup Huret

inv(16)(p13q22) CBFB/MYH11 in treatment related leukemia

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

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