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

Disease

Juvenile myelomonocytic leukemia.

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)-specc1-pdgfrb