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inv(16)(p13q22) CBFB::MYH11 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 1297
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.
  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) – 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) – Courtesy Adriana Zamecnikova - Courtesy Adriana Zamecnikova.

Clinics and Pathology

Disease Treatment related myelodysplasia (t-MDS) or acute myeloid leukaemias (t-AML)
Note 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
Epidemiology inv(16)(p13q22) was found in 9% of t-MDS/t-AML; sex ratio: 18M/30F
Clinics 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%.
Prognosis 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.


Additional anomalies The inv(16) was found solely in 46% of cases; additional anomalies were: +8 in 17% , +21 in 13%, +22 in 8%, -7/del(7q) in 8%, +13 in 6%, or -5/del(5q).

Result of the chromosomal anomaly

Hybrid gene
Description 5'CBFB -3¹ MYH11


Balanced chromosome abnormalities inv(16) and t(15;17) in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.
Andersen MK, Larson RA, Mauritzson N, Schnittger S, Jhanwar SC, Pedersen-Bjergaard J
Genes, chromosomes & cancer. 2002 ; 33 (4) : 395-400.
PMID 11921273


This paper should be referenced as such :
Huret, JL
inv(16)(p13q22) in treatment related leukemia
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):20-21.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

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

External links

CBFB (16q22.1) MYH11 (16p13.11)

CBFB (16q22.1) MYH11 (16p13.11)

Mitelman databaseinv(16)(p13q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseCBFB::MYH11 [MCList]  CBFB (16q22.1) MYH11 (16p13.11)
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