Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Written2008-02Jean-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 1207

Clinics and Pathology

Disease Acute myeloid leukaemia (AML); non-Hodgkin lymphoma (NHL)
Note The disease is likely to be heterogeneous, with different phenotypes (AML and NHL) for a given breakpoint (1p31 and 8q22), and possibly similar or different breakpoints in different AML cases.
Epidemiology 3 cases of AML: two of which were M2 cases (ages and sex were: 84 years/F; 40 years/ M; ?/?); the NHL case was 71 year-old male patient with a small cleaved cell follicular lymphoma


Additional anomalies Complex karyotypes in all the available cases; a del(5q) and a t(8;21)(q22;q22) in a M2-AML

Genes involved and Proteins

Note Genes involved 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.


Nonrandom chromosome abnormalities in lymphoma.
Bloomfield CD, Arthur DC, Frizzera G, Levine EG, Peterson BA, Gajl-Peczalska KJ
Cancer research. 1983 ; 43 (6) : 2975-2984.
PMID 6850608
Complex chromosome translocations of standard t(8;21) and t(15;17) arise from a two-step mechanism as evidenced by fluorescence in situ hybridization analysis.
Calabrese G, Min T, Stuppia L, Powles R, Swansbury JG, Morizio E, Peila R, Donti E, Fioritoni G, Palka G
Cancer genetics and cytogenetics. 1996 ; 91 (1) : 40-45.
PMID 8908165
Acute leukemia cytogenetics: an evaluation of combining G-band karyotyping with multi-color spectral karyotyping.
Kerndrup GB, Kjeldsen E
Cancer genetics and cytogenetics. 2001 ; 124 (1) : 7-11.
PMID 11165315
Acute megakaryocytic leukemia.
Moertel CL, Miser JS
Mayo Clinic proceedings. Mayo Clinic. 1990 ; 65 (3) : 437-438.
PMID 2353967
Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH.
Van Limbergen H, Poppe B, Michaux L, Herens C, Brown J, Noens L, Berneman Z, De Bock R, De Paepe A, Speleman F
Genes, chromosomes & cancer. 2002 ; 33 (1) : 60-72.
PMID 11746988


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):136-136.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(1;8)(p22-p32;q22-q23)
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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