t(5;17)(q33;p11.2) SPECC1/PDGFRB
2004-09-01 Claudio Panarello Affiliation1.Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy
Clinics and Pathology
Disease
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15087371 | 2004 | Nitrosative 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
