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11p15 rearrangements (NUP98) 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 1299
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 leukaemia (t-AML)
Note The study included 17 cases; t-MDS without progression to AML accounted for 35%, t-MDS with progression to AML for 18% and t-AML for the remaining 47% (M2 or M4 mainly); no case of acute lymphoblastic leukaemia
Epidemiology 11p15 rearrangements were found in 3% of t-MDS/t-AML and have been reported to be found in 5% of childhood t-MDS/t-AML; sex ratio: 4M/13F
Clinics Age at diagnosis of the primary disease 45 yrs (range 2-70); age at diagnosis of the t-MDS/t-AML: 50 yrs (range 4-75). Median interval was short: 54 mths (range: 11-189). Primary disease was a solid tumor in 47% of cases (in particular breast cancer) and a hematologic malignancy in 53%, treatment was chemotherapy (42%), or both chemotherapy and radiotherapy (58%). Treatment included topoisomerase II inhibitors in 71% of cases and alkylating agents in 76%.
Prognosis Median survival was 13 mths, with 56% of patients surviving at 1 yr, and 33% at 2 yrs., a similar survival to what is found in treatment related leukemias with a 21q22 rearrangement


Additional anomalies 11p15 rearrangements included inv(11)(p15q23) in 35% of cases, t(7;11)(p15;p15)in 18%, or, more rarely: t(1;11)(p32;p15), t(2;11)(q31;p15), t(4;11)(q22;p15), t(10;11)(q22-23;p15), t(11;17)(p15;q21), or t(11;20)(p15;q11); additional anomalies were: -7/del(7q) in 24%, and -5/del(5q) in 12 %. Complex karyotypes were found in 18%.

Result of the chromosomal anomaly

Hybrid gene
Description 5' NUP98 -3' partner


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
11p15 rearrangements in treatment related leukemia
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):16-16.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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