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Written2017-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France.

Abstract Review on t(17;20)(q21;q11) in acute myeloid leukemia.

Keywords Chromosome 17; Chromosome 20; acute myeloid leukemia

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ICD-Topo C420,C421,C424
ICD-Morpho 9874/3 AML with maturation
ICD-Morpho 9866/3 Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA
Atlas_Id 1779

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Phenotype / cell stem origin One case was an AML with maturation (AML-M2/RAEB) and another case was an acute promyelocytic leukaemia (AML-M3).
Epidemiology Only two cases to date, both female patients, one of them aged 59-years.
Clinics The patient with an AML-M3 died six weeks after diagnosis.
Cytogenetics Both cases presented with -5/del(5q); the AML-M3 also had del(18)(p11), +mar, +dmin, and other abnormalities, i.e. a complex karyotypic with double minutes.
Genes RARA was not checked in any of the cases, although a M3 presenting with a breakpoint in 17q21 is very likely to bear a RARA fusion gene and protein.
The AML-M2/RAEB with a del(5q) implicated the IRF1 locus, which was consequently deleted.
In the AML M3 case, PCR revealed amplification of the MYC.

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.


Lack of IRF-1 expression in acute promyelocytic leukemia and in a subset of acute myeloid leukemias with del(5)(q31).
Green WB, Slovak ML, Chen IM, Pallavicini M, Hecht JL, Willman CL.
Leukemia. 1999 Dec;13(12):1960-71.
PMID 10602416
Extrachromosomal gene amplification in acute myeloid leukemia; characterization by metaphase analysis, comparative genomic hybridization, and semi-quantitative PCR.
Mohamed AN, Macoska JA, Kallioniemi A, Kallioniemi OP, Waldman F, Ratanatharathorn V, Wolman SR.
Genes Chromosomes Cancer. 1993 Nov;8(3):185-9.
PMID 7509627


This paper should be referenced as such :
Jean-Loup Huret
Atlas Genet Cytogenet Oncol Haematol. 2018;22(2):-.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(17;20)(q21;q11)
arrayMap (UZH-SIB Zurich)Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9866/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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