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.

Highly cited references

Pubmed IDYearTitleCitations
264144752015Acute Promyelocytic Leukemia: A Review and Discussion of Variant Translocations.27
232715122013All-trans retinoic acid and arsenic trioxide resistance of acute promyelocytic leukemia with the variant STAT5B-RARA fusion gene.17
226552412011Development of real-time quantitative polymerase chain reaction assays to track treatment response in retinoid resistant acute promyelocytic leukemia.11
196247182009Acute promyelocytic leukemia harboring a STAT5B-RARA fusion gene and a G596V missense mutation in the STAT5B SH2 domain of the STAT5B-RARA.10
182213862008Detection of the STAT5B-RARA fusion transcript in acute promyelocytic leukemia with the normal chromosome 17 on G-banding.9
287600542018Successful treatment of a patient with acute promyelocytic leukemia with a STAT5B/RARA fusion gene using decitabine.8
271485632015Myeloid neoplasm demonstrating a STAT5B-RARA rearrangement and genetic alterations associated with all-trans retinoic acid resistance identified by a custom next-generation sequencing assay.7
306650502019STAT5b-RARa-positive acute myeloid leukemia: Diagnostic and therapeutic challenges of a rare AML subtype.5
256299862015Novel STAT5B-RARA fusion transcript in acute promyelocytic leukemia: identification and treatment response.4
331208452020Does acute promyelocytic leukemia patient with the STAT5B/RARa fusion gene respond well to decitabine?: A case report and literature review.3
314470652019Characterization of a rarely reported STAT5B/RARA gene fusion in a young adult with newly diagnosed acute promyelocytic leukemia with resistance to ATRA therapy.3
290300912018Clinical characteristics of acute promyelocytic leukemia with the STAT5B-RARA fusion gene.3
279111322017A new acute myeloid leukemia case with STAT5B-RARA gene fusion due to 17q21.2 interstitial deletion.2
359576652022Treatment of STAT5b-RARA positive acute promyelocytic leukemia by Venetoclax combining with homoharringtonine, cytarabine: A case report and literature review.0
323813052020Corrigendum to "STAT5b-RARa-positive acute myeloid leukemia: Diagnostic and therapeutic challenges of a rare AML subtype" [Leuk. Res. 78 (2019) 21-23].0


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/dup(17)(q12q21)

External Links