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

Written2004-09Claudio Panarello
Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy

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ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1327

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 NamePDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location 5q32
Protein Ig like, transmembrane and tyrosine kinase domains.
Gene NameSPECC1 (sperm antigen HCMOGT-1)
Location 17p11.2

Result of the chromosomal anomaly

Hybrid gene
Description 5'HCMOGT-1/3'PDGFRB 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.
Fusion Protein
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.

To be noted



Nitrosative stress in rotated three-dimensional colorectal carcinoma cell cultures induces microtubule depolymerization and apoptosis.
Laguinge LM, Lin S, Samara RN, Salesiotis AN, Jessup JM
Cancer research. 2004 ; 64 (8) : 2643-2648.
PMID 15087371


This paper should be referenced as such :
Panarello, C
Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):325-325.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(5;17)(q33;p11.2) SPECC1/PDGFRB

External links

SPECC1 (17p11.2) PDGFRB (5q32)

SPECC1 (17p11.2) PDGFRB (5q32)

SPECC1 (17p11.2) PDGFRB (5q32)

Mitelman databaset(5;17)(q33;p11.2)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9966/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseSPECC1::PDGFRB [MCList]  SPECC1 (17p11.2) PDGFRB (5q32)
Mitelman databaseSPECC1::PDGFRB [MCList]  SPECC1 (17p11.2) 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 16:36:42 CEST 2021

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