t(5;17)(q33;p11.2) SPECC1/PDGFRB

2004-09-01   Claudio Panarello 

1.Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy

Clinics and Pathology

Epidemiology

Only one case available to date: a 18-month-old boy.

Clinics

Marked hepatosplenomegaly, trombocytopenia.

Cytology

Peripheral blood leukocytosis with eosinophilia, bone marrow fibrosis (grade III), dry tap.

Treatment

Allogeneic BMT.

Evolution

Alive and free of disease after 4 years.

Genes Involved and Proteins

Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location
5q32
Protein description
Ig like, transmembrane and tyrosine kinase domains.
Gene name
SPECC1 (sperm antigen HCMOGT-1)
Location
17p11.2

Result of the Chromosomal Anomaly

Description

5HCMOGT-1/3PDGFRB The HCMOGT1 cDNA sequence was fused in-frame to PDGFRB at nucleotide 1936 and situated 5 to the PDGFRB portion, as in previous studies of PDGFRB fusion partners.

Transcript

HCMOGT-1/PDGFRB chimeric RNA present.

Description

Coiled-coil domain from HCMOGT-1 fused to the transmembrane domain and the Tyr kinase domain of PDGFRB; the reciprocal PDGFRB/HCMOGT-1 transcript is not expressed.

Bibliography

Pubmed IDLast YearTitleAuthors
150873712004Nitrosative stress in rotated three-dimensional colorectal carcinoma cell cultures induces microtubule depolymerization and apoptosis.Laguinge LM et al

Summary

Fusion gene

SPECC1/PDGFRB SPECC1 (17p11.2) PDGFRB (5q32) M|SPECC1/PDGFRB SPECC1 (17p11.2) PDGFRB (5q32) M t(5;17)(q32;p11)|SPECC1/PDGFRB SPECC1 (17p11.2) PDGFRB (5q32) TIC

Citation

Claudio Panarello

t(5;17)(q33;p11.2) SPECC1/PDGFRB

Atlas Genet Cytogenet Oncol Haematol. 2004-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1327/t(5;17)(q33;p11-2)

External Links