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Identification of an Actionable Mutation of KIT in a Case of Extraskeletal Myxoid Chondrosarcoma
- Source :
- International Journal of Molecular Sciences, International Journal of Molecular Sciences, Vol 19, Iss 7, p 1855 (2018)
- Publication Year :
- 2018
- Publisher :
- MDPI, 2018.
-
Abstract
- Extraskeletal myxoid chondrosarcoma (EMC) is an extremely rare soft tissue sarcoma, marked by a translocation involving the NR4A3 gene. EMC is usually indolent and moderately sensitive to anthracycline-based chemotherapy. Recently, we reported on the therapeutic activity of sunitinib in a series of EMC cases, however the molecular target of sunitinib in EMC is unknown. Moreover, there is still the need to identify alternative therapeutic strategies. To better characterize this disease, we performed whole transcriptome sequencing in five EMC cases. Peculiarly, in one sample, an in-frame deletion (c.1735_1737delGAT p.D579del) was identified in exon 11 of KIT. The deletion was somatic and heterozygous and was validated both at DNA and mRNA level. This sample showed a marked high expression of KIT at the mRNA level and a mild phosphorylation of the receptor. Sanger sequencing of KIT in additional 15 Formalin Fixed Paraffin Embedded (FFPE) EMC did not show any other mutated cases. In conclusion, exon 11 KIT mutation was detected only in one out of 20 EMC cases analyzed, indicating that KIT alteration is not a recurrent event in these tumors and cannot explain the EMC sensitivity to sunitinib, although it is an actionable mutation in the individual case in which it has been identified.
- Subjects :
- 0301 basic medicine
Receptors, Steroid
Oncogene Proteins, Fusion
medicine.disease_cause
Whole Exome Sequencing
Catalysi
lcsh:Chemistry
Exon
0302 clinical medicine
Neoplasms
Receptors
EMC
Thyroid Hormone
lcsh:QH301-705.5
Spectroscopy
Exome sequencing
Sequence Deletion
Connective and Soft Tissue
Oncogene Proteins
Sanger sequencing
next generation sequencing
Mutation
Receptors, Thyroid Hormone
Sunitinib
Soft tissue sarcoma
Communication
Computer Science Applications1707 Computer Vision and Pattern Recognition
KIT
General Medicine
Exons
Extraskeletal Myxoid Chondrosarcoma
Computer Science Applications
DNA-Binding Proteins
Gene Expression Regulation, Neoplastic
Proto-Oncogene Proteins c-kit
030220 oncology & carcinogenesis
symbols
extraskeletal myxoid chondrosarcoma
Human
medicine.drug
DNA-Binding Protein
Chondrosarcoma
Catalysis
NO
Inorganic Chemistry
03 medical and health sciences
symbols.namesake
Exome Sequencing
medicine
Humans
Physical and Theoretical Chemistry
Fusion
Steroid
Molecular Biology
Neoplastic
Base Sequence
business.industry
Organic Chemistry
Computational Biology
medicine.disease
030104 developmental biology
lcsh:Biology (General)
lcsh:QD1-999
Gene Expression Regulation
Cancer research
Extraskeletal myxoid chondrosarcoma
Next generation sequencing
RNA-Binding Protein EWS
Transcriptome
business
Neoplasms, Connective and Soft Tissue
Subjects
Details
- Language :
- English
- ISSN :
- 14220067
- Volume :
- 19
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- International Journal of Molecular Sciences
- Accession number :
- edsair.doi.dedup.....3d24bd02e4d7a5b28d232e261d6cc35b