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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 Name PDGFRB
Location 5q33
Protein Ig like, transmembrane and tyrosine kinase domains.
Gene Name SPECC1
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) [Case List]    t(5;17)(q33;p11.2) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9966/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [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)
TICdbSPECC1/PDGFRB  SPECC1 (17p11.2) PDGFRB (5q32)
Disease databaset(5;17)(q33;p11.2) SPECC1/PDGFRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Fri Jun 30 11:23:16 CEST 2017

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