t(17;20)(q21;q11)

2017-02-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France. jean-loup.huret@chu-poitiers.fr

Abstract

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

Clinics and Pathology

Disease

Acute myeloid leukemia (AML)

Phenotype stem cell 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.

Bibliography

Pubmed IDLast YearTitleAuthors
106024161999Lack of IRF-1 expression in acute promyelocytic leukemia and in a subset of acute myeloid leukemias with del(5)(q31).Green WB et al
75096271993Extrachromosomal gene amplification in acute myeloid leukemia; characterization by metaphase analysis, comparative genomic hybridization, and semi-quantitative PCR.Mohamed AN et al

Citation

Jean-Loup Huret

t(17;20)(q21;q11)

Atlas Genet Cytogenet Oncol Haematol. 2017-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1779/t(17;20)(q21;q11)

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