t(2;5)(p21;q33) SPTBN1/PDGFRB

2009-04-01   Jean-Loup Huret 

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

Clinics and Pathology


One case to date, a 73-year-old female patient (Gallagher et al., 2008).


The patient was alive and well after 3 years of therapy with imatinib.

Genes Involved and Proteins

Gene name
SPTBN1 (spectrin beta, non-erythrocytic 1)
Protein description
SPTBN1 (spectrin beta1 non erythrocytic), also called beta-fodrin, is a cytoskeleton protein. Forms dimers with alpha-fodrin (SPTAN1, 9q34), which self-associates head-to-head into tetramers. Membrane skeleton protein associated with ion channels and pumps (Winkelmann and Forget, 1993); Stabilizes cell surface membranes; role in mitotic spindles assembly (Bennett and Baines, 2001).
Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Protein description
Comprises an extracellular part with 5 Ig-like C2 type domains, a transmembrane domain, and an intracellular part with a tyrosine kinase domain (made of two tyrosine kinase subdomains) for transduction of the signal. Receptor tyrosine kinase; receptor for PDGFB and PDGFD (Bergsten et al., 2001); forms homodimers, or heterodimer with PDGFRA; upon dimerization, subsequent activation by autophosphorylation of the tyrosine kinase intracellular domains occurs.

Result of the Chromosomal Anomaly


Constitutive activation of the PDGFRB tyrosine kinase domain.


Pubmed IDLast YearTitleAuthors
114276982001Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues.Bennett V et al
113318812001PDGF-D is a specific, protease-activated ligand for the PDGF beta-receptor.Bergsten E et al
182620532008Fusion of PRKG2 and SPTBN1 to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders.Gallagher G et al
85078591993Erythroid and nonerythroid spectrins.Winkelmann JC et al


Fusion gene

SPTBN1/PDGFRB SPTBN1 (2p16.2) PDGFRB (5q32) M t(2;5)(p16;q32)


Jean-Loup Huret

t(2;5)(p21;q33) SPTBN1/PDGFRB

Atlas Genet Cytogenet Oncol Haematol. 2009-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1511/t(2;5)(p21;q33)