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Written2009-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1532

Clinics and Pathology

Disease Acute myeloid leukaemia (AML)
Phenotype / cell stem origin Myeloid leukaemias (Paietta et al., 1988; Scheurlen et al., 1999), if we exclude a case of lymphoplasmacytoid lymphoma (Offit el al., 1995). The translocation is found in M1-AML and M2-AML, with erythroid hyperplasia in the bone marrow and the presence of binucleated and trinucleated red cells in at least 3 of 4 cases (Paietta et al., 1988).
Epidemiology Four cases available, 2 male and 2 female patients, aged 26, 61, 63, and 63.
Prognosis The clinical outcome is poor, with 2 cases not entering into remission and dead within 2 months after diagnosis, and a third patient with partial remission, relapse after 2 months, and death. The fourth patient's outcome is unknown.


Additional anomalies Major karyotypic abnormalities (MAKA) in four of four cases, with marker chromosomes in all cases, -3 in two cases, -5, -7, +8, t(10;11)(p13;q13), i(17q), +18 in one case each.

Genes involved and Proteins

Note The genes involved in this translocation are unknown.

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.


Del (7)(q32) is associated with a subset of small lymphocytic lymphoma with plasmacytoid features.
Offit K, Louie DC, Parsa NZ, Noy A, Chaganti RS.
Blood. 1995 Sep 15;86(6):2365-70.
PMID 7662983
Translocation t(12;19)(q13;q13.3). A new recurrent abnormality in acute nonlymphocytic leukemia with atypical erythropoiesis.
Paietta E, Papenhausen P, Gucalp R, Wiernik PH.
Cancer Genet Cytogenet. 1988 Aug;34(1):19-23.
PMID 3395990
Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q).
Scheurlen WG, Schwabe GC, Seranski P, Joos S, Harbott J, Metzke S, Dohner H, Poustka A, Wilgenbus K, Haas OA.
Genes Chromosomes Cancer. 1999 Jul;25(3):230-40.
PMID 10379869


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(12):979-979.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(12;19)(q13;q13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [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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