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Recurrent KRAS, KIT and SF3B1 mutations in melanoma of the female genital tract
- Source :
- BMC Cancer, Vol 21, Iss 1, Pp 1-9 (2021), BMC Cancer
- Publication Year :
- 2021
- Publisher :
- BMC, 2021.
-
Abstract
- Background Malignant melanoma of the female genital tract is relatively uncommon and accounts for 3–7% of all melanoma localizations. This study aimed to identify driver genes in melanoma of the female genital tract with the purpose of enhancing understanding of disease pathogenesis and identifying potential new therapeutic targets to develop effective therapies. Methods KIT (CD117) and BRAF expression were detected immunohistochemically. Polymerase Chain Reaction (PCR) and Sanger sequencing techniques were performed to identify the mutational status of BRAF, NRAS, KRAS, NF1, KIT, PDGFRA and SF3B1 on 19 melanomas of the female genital tract, paired with 25 cutaneous melanomas, 18 acral melanomas and 11 melanomas of nasal cavity. Results Somatic variant analysis identified KRAS (6/19; 32%) as the most commonly mutated gene, followed by KIT (4/19; 21%), SF3B1 (3/19; 16%) and NRAS (1/19; 5%). None of the cases were found to harbor BRAF, NF1 and PDGFRA mutations in melanomas of the female genital tract. However, none of the cases were found to harbor SF3B1 and KIT mutations in cutaneous melanomas, acral melanomas and melanomas of nasal cavity. Recurrent KIT mutations, as well as mutations in the less frequently mutated genes NRAS and SF3B1, were exclusively detected in vulvovaginal melanomas, but not in tumors arising in the cervix. However, recurrent KRAS mutations were detected in similar frequencies in tumors of the vulva, vagina, and cervix. Additionally, recurrent KRAS and KIT mutations occurred predominantly in polygonal and epithelioid cell types of melanoma in the female genital tract. Immunohistochemistry revealed moderate or strong cytoplasmic CD117 expression in 6 of the 19 cases (31.6%). Conclusions We observed that gynecologic melanoma harbored distinct mutation rates in the KIT, BRAF, SF3B1, KRAS, and NRAS genes. Our findings support the notion that gynecologic melanoma is a distinct entity from non-gynecologic melanoma, and these findings offer insights into future therapeutic options for these patients.
- Subjects :
- Adult
0301 basic medicine
Neuroblastoma RAS viral oncogene homolog
Cancer Research
Genital Neoplasms, Female
PDGFRA
medicine.disease_cause
Vulva
Proto-Oncogene Proteins p21(ras)
Targeted therapy
03 medical and health sciences
0302 clinical medicine
Female genital tract
Surgical oncology
Genetics
medicine
Humans
Melanoma
Cervix
neoplasms
RC254-282
Aged
biology
Malignant melanoma
CD117
business.industry
Research
High-Throughput Nucleotide Sequencing
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Middle Aged
Phosphoproteins
medicine.disease
digestive system diseases
Proto-Oncogene Proteins c-kit
030104 developmental biology
medicine.anatomical_structure
Oncology
030220 oncology & carcinogenesis
Mutation
Cancer research
biology.protein
Driver genes
Female
RNA Splicing Factors
KRAS
business
Subjects
Details
- Language :
- English
- ISSN :
- 14712407
- Volume :
- 21
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- BMC Cancer
- Accession number :
- edsair.doi.dedup.....0db9904147179744b6b64b05c7dc6f00