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

Written2009-04Jean-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 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1511

Clinics and Pathology

Disease Atypical myeloproliferative disease with eosinophilia
Epidemiology One case to date, a 73-year-old female patient (Gallagher et al., 2008).
Prognosis The patient was alive and well after 3 years of therapy with imatinib.


Cytogenetics Morphological The t(2;5) was the sole anomaly.

Genes involved and Proteins

Gene NameSPTBN1 (spectrin beta, non-erythrocytic 1)
Location 2p16.2
Protein 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 NamePDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location 5q32
Protein 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

Fusion Protein
Description Constitutive activation of the PDGFRB tyrosine kinase domain.

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.


Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues.
Bennett V, Baines AJ.
Physiol Rev. 2001 Jul;81(3):1353-92. (REVIEW)
PMID 11427698
PDGF-D is a specific, protease-activated ligand for the PDGF beta-receptor.
Bergsten E, Uutela M, Li X, Pietras K, Ostman A, Heldin CH, Alitalo K, Eriksson U.
Nat Cell Biol. 2001 May;3(5):512-6.
PMID 11331881
Fusion of PRKG2 and SPTBN1 to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders.
Gallagher G, Horsman DE, Tsang P, Forrest DL.
Cancer Genet Cytogenet. 2008 Feb;181(1):46-51.
PMID 18262053
Erythroid and nonerythroid spectrins.
Winkelmann JC, Forget BG.
Blood. 1993 Jun 15;81(12):3173-85. (REVIEW)
PMID 8507859


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2010;14(3):320-320.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;5)(p21;q33) SPTBN1/PDGFRB

External links

SPTBN1 (2p16.2) PDGFRB (5q32)

Mitelman databaset(2;5)(p21;q33)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9966/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseSPTBN1::PDGFRB [MCList]  SPTBN1 (2p16.2) PDGFRB (5q32)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Fri Oct 8 16:36:14 CEST 2021

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