t(17;17)(q21;q21) STAT5B/RARA
dup(17)(q12q21) STAT5B/RARA

2009-03-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


In one case, a diagnosis of M1-AML was made, but there were some blasts suggestive of a microgranular variant of acute promyelocytic leukaemia (M3v-AML).


3 cases to date, 3 male patients aged 42, 57, and 67 years (Arnoud et al., 1999; Kusakabe et al., 2008; and Gallagher et al. (ref 6 in Kusakabe et al., 2008)).


Patients exhibited normal WBC, mild anaemia, thrombocytemia and disseminated intravascular coagulation (DIC) (Kusakabe et al., 2008).


One case did not respond to all trans-retinoic acid (ATRA) treatment, but ATRA revealed effective to control DIC, and was therefore continued. In another case, blasts failed to respond to ATRA in vitro.


Data is available in one case: the patient remains in complete remission 21 months after diagnosis.


Cytogenetics morphological

Cryptic translocation.

Additional anomalies

-Y in two cases, i(17q) in one case.

Genes Involved and Proteins

Gene name
STAT5B (signal transducer and activator of transcription 5B)
Protein description
Signal transduction (JAK/STAT signaling); Following JAK activation, STAT5B is phosphorylated, forms dimers and activates transcription.
Gene name
RARA (Retinoic acid receptor, alpha)
Protein description
Ligand-dependent transcription factor specifically involved in hematopoietic cells differentiation and maturation. Receptor for all-trans retinoic acid (ATRA) and 9-cis RA. After linking with ATRA, RARA binds with RXR (retinoid X receptor protein) to the RARE domain (retinoic acid response elements), a DNA sequence common to a number of genes.

Result of the Chromosomal Anomaly


5 STAT5B - 3 RARA. Fusion of STAT5B (at exon "n") to exon 3 of RARA. The genes are normally separated by 1.9 Mb on chromosome 17q21; RARA transcription is centromere to telomere, while STAT5B is telomere to centromere. It was therefore presumed that the hybrid gene result from a small inversion (Kusakabe et al., 2008).Fusion protein of 1038 amino acids, composed of the NH2 term coiled-coil domain, the DNA binding domain the SH3 and the SH2 from STAT5B, fused to the transactivation domain, the DNA binding domain, the N-CoR box, and the COOH term ligand binding domain and dimerization domain of RARA.


Pubmed IDLast YearTitleAuthors
104413381999The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.Arnould C et al
182213862008Detection of the STAT5B-RARA fusion transcript in acute promyelocytic leukemia with the normal chromosome 17 on G-banding.Kusakabe M et al


Fusion gene

STAT5B/RARA STAT5B (17q21.2) RARA (17q21.2) M t(17;17)(q21;q21)|STAT5B/RARA STAT5B (17q21.2) RARA (17q21.2) TIC


Jean-Loup Huret

t(17;17)(q21;q21) STAT5B/RARA
dup(17)(q12q21) STAT5B/RARA

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/haematological/1456/t(17;17)(q21;q21)-stat5b-rara-br-dup(17)(q12q21)-stat5b-rara

External Links