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. [email protected]

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.

Genes Involved and Proteins

Article 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/teaching-explorer/tumors-explorer/new-content/calendar