Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/26562302http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26562302http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26562302http://www.w3.org/2000/01/rdf-schema#comment"

Introduction

Both canine cutaneous mast cell tumor (MCT) and human systemic mastocytosis (SM) are characterized by abnormal proliferation and accumulation of mast cells in tissues and, frequently, by the presence of activating mutations in the receptor tyrosine kinase V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog (c-KIT), albeit at different incidence (>80% in SM and 10-30% in MCT). In the last few years, it has been discovered that additional mutations in other genes belonging to the methylation system, the splicing machinery and cell signaling, contribute, with c-KIT, to SM pathogenesis and/or phenotype. In the present study, the mutational profile of the Tet methylcytosine dioxygenase 2 (TET2), the isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2), the serine/arginine-rich splicing factor 2 (SRSF2), the splicing factor 3b subunit 1 (SF3B1), the Kirsten rat sarcoma viral oncogene homolog (KRAS) and the neuroblastoma RAS viral oncogene homolog (NRAS), commonly mutated in human myeloid malignancies and mastocytosis, was investigated in canine MCTs.

Methods

Using the Sanger sequencing method, a cohort of 75 DNA samples extracted from MCT biopsies already investigated for c-KIT mutations were screened for the "human-like" hot spot mutations of listed genes.

Results

No mutations were ever identified except for TET2 even if with low frequency (2.7%). In contrast to what is observed in human TET2 no frame-shift mutations were found in MCT samples.

Conclusion

Results obtained in this preliminary study are suggestive of a substantial difference between human SM and canine MCT if we consider some target genes known to be involved in the pathogenesis of human SM."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.org/dc/terms/identifier"doi:10.1371/journal.pone.0142450"xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Dubreuil P."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Dubreuil P."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Hanssens K."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Hanssens K."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Dacasto M."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Dacasto M."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Giantin M."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Giantin M."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Zorzan E."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/author"Zorzan E."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/name"PLoS ONE"xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/name"PLoS One"xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/pages"E0142450"xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/pages"e0142450"xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/title"Mutational Hotspot of TET2, IDH1, IDH2, SRSF2, SF3B1, KRAS, and NRAS from Human Systemic Mastocytosis Are Not Conserved in Canine Mast Cell Tumors."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/title"Mutational Hotspot of TET2, IDH1, IDH2, SRSF2, SF3B1, KRAS, and NRAS from Human Systemic Mastocytosis Are Not Conserved in Canine Mast Cell Tumors."xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/volume"10"xsd:string
http://purl.uniprot.org/citations/26562302http://purl.uniprot.org/core/volume"10"xsd:string
http://purl.uniprot.org/citations/26562302http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/26562302
▶