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t(17;17)(q21;q21) STAT5B::RARA

dup(17)(q12q21) STAT5B::RARA

Written2009-03Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1456

Clinics and Pathology

Disease Acute promyelocytic leukaemia (M3-AML)
Note 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).
Epidemiology 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)).
Clinics Patients exhibited normal WBC, mild anaemia, thrombocytemia and disseminated intravascular coagulation (DIC) (Kusakabe et al., 2008).
Treatment 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.
Prognosis 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 NameSTAT5B (signal transducer and activator of transcription 5B)
Location 17q21.2
Protein Signal transduction (JAK/STAT signaling); Following JAK activation, STAT5B is phosphorylated, forms dimers and activates transcription.
Gene NameRARA (Retinoic acid receptor, alpha)
Location 17q21.2
Protein 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

Hybrid gene
Description 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
Description 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.

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.


The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.
Arnould C, Philippe C, Bourdon V, Gr goire MJ, Berger R, Jonveaux P.
Hum Mol Genet. 1999 Sep;8(9):1741-9.
PMID 10441338
Detection of the STAT5B-RARA fusion transcript in acute promyelocytic leukemia with the normal chromosome 17 on G-banding.
Kusakabe M, Suzukawa K, Nanmoku T, Obara N, Okoshi Y, Mukai HY, Hasegawa Y, Kojima H, Kawakami Y, Ninomiya H, Nagasawa T.
Eur J Haematol. 2008 May;80(5):444-7. Epub 2008 Jan 23.
PMID 18221386


This paper should be referenced as such :
Huret, JL
t(17;17)(q21;q21) - dup(17)(q12q21)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(2):155-156.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes RARA

Translocations implicated (Data extracted from papers in the Atlas)

 t(17;17)(q21;q21) STAT5B/RARA

External links

STAT5B (17q21.2) RARA (17q21.2)

STAT5B (17q21.2) RARA (17q21.2)

Mitelman databasedup(17)(q12q21)
Mitelman databaset(17;17)(q21;q21)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseSTAT5B::RARA [MCList]  STAT5B (17q21.2) RARA (17q21.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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