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Written2008-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1088

Clinics and Pathology

Disease Myeloid disorders: myelodysplastic syndromes (MDS) and acute myeloid leukaemias (AML)
Phenotype / cell stem origin The AML case was a myelomonocytic leukaemia (M4-AML) with eosinophilia; one of the the MDS cases also showed bone marrow eosinophilia. One MDS case was treatment related (t-MDS), the first tumour was a mantle cell lymphoma.
Epidemiology Only 3 cases to date, 1 male and 2 female patients, aged 47, 59, and 63 years (Neri et al., 1985; Bernard et al., 1989; Olney et al., 2002).


Additional anomalies Sole anomaly in one case, accompanied with -7/del(7q) in two cases, -5 in one case, major karyotypic anomalies in one case.

Genes involved and Proteins

Note The genes involved are unknown; because of the eosinophilia in at least 2 of 3 patients, it is likely that the gene involved in 16q22 is CBFB.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Acute nonlymphocytic leukemia with marrow eosinophilia and chromosome 16 abnormality: a report of 18 cases.
Bernard P, Dachary D, Reiffers J, Marit G, Wen Z, Jonveaux P, David B, Lacombe F, Broustet A.
Leukemia. 1989 Oct;3(10):740-5.
PMID 2779289
Chromosome 16q, eosinophilia, and leukemia.
Neri G, Daniel A, Hammond N.
Cancer Genet Cytogenet. 1985 Jan 15;14(3-4):371-2.
PMID 3967211
Unique balanced chromosome abnormalities in treatment-related myelodysplastic syndromes and acute myeloid leukemia: report from an international workshop.
Olney HJ, Mitelman F, Johansson B, Mrozek K, Berger R, Rowley JD.
Genes Chromosomes Cancer. 2002 Apr;33(4):413-23.
PMID 11921275


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(10):747-747.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(3;16)(q21;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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