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Published on: June 7, 2019
BRAF, KIT, NRAS, GNAQ and GNA11 mutation analysis in cutaneous melanomas in Turkish population
Ismail Yilmaz1, Mehmet Gamsizkan, Zafer Kucukodaci
1Department of Pathology, Gulhane Military Medical Academy, Haydarpasa Training Hospital, Istanbul, Turkey.
Background:
KIT and mitogen-activated protein kinase cascade are important for melanomagenesis. In the present study, we analyzed the frequency of BRAF, NRAS, KIT, GNAQ and GNA11 gene mutations and investigated their association with clinicopathological features of melanomas in Turkish population.
Materials And Methods:
Forty-seven primary cutaneous melanomas were included in our study. Sanger sequencing method was used for mutation analysis in all cases.
Results:
Mean age was 62.1 (29-101) years. Female:male ratio was 17:30. Among 47 melanomas, 14 (29.8%) BRAF, 10 (21.3%) NRAS, 4 (8.5%) KIT and 1(2.1%) GNAQ gene mutations were detected. Two of the KIT mutations were found in acral lentiginous melanoma (ALM). In the head and neck region, mutation frequency was significantly lower than in other locations (P = 0.035). The only GNAQ gene mutation (p.Q209L) was detected in a melanoma arising from blue nevus located on the scalp. None of the melanomas harbored NRAS exon 2, KIT exon 13/17/18, GNAQ exon 4 and GNA11 exon 4/5 mutations. Overall mutation frequency did not show significant difference between metastatic (8/14, 57.1%) and nonmetastatic (18/33, 54.5%) patients. We did not observe any significant association between mutation status and gender or age of various patients.
Conclusions:
Our results support that BRAF and NRAS gene mutations are common in cutaneous melanomas. The activating mutations of KIT gene are rare and especially seen in ALM. GNAQ and GNA11 mutations are infrequent in cutaneous melanomas and may be associated only with melanomas arising from blue nevus.
Insights
BRAF and NRAS gene mutations are common in Turkish cutaneous melanomas. Activating KIT mutations are rare, primarily found in acral lentiginous melanoma (ALM), while GNAQ/GNA11 mutations are infrequent.
Area of Science:
- Oncology
- Genetics
- Dermatology
Background:
- Melanomagenesis involves the KIT and mitogen-activated protein kinase pathways.
- Understanding gene mutation frequencies is crucial for targeted melanoma therapies.
Purpose of the Study:
- To analyze the frequency of BRAF, NRAS, KIT, GNAQ, and GNA11 gene mutations in Turkish melanoma patients.
- To investigate the association between these mutations and clinicopathological features.
Main Methods:
- Sanger sequencing was employed for mutation analysis.
- The study included 47 primary cutaneous melanoma samples.
Main Results:
- BRAF (29.8%), NRAS (21.3%), KIT (8.5%), and GNAQ (2.1%) mutations were detected.
- KIT mutations were observed in two cases of acral lentiginous melanoma (ALM).
- Mutation frequency was lower in head and neck melanomas (P = 0.035).
Conclusions:
- BRAF and NRAS mutations are prevalent in Turkish cutaneous melanomas.
- Activating KIT mutations are rare and associated with ALM.
- GNAQ and GNA11 mutations are infrequent and potentially linked to blue nevus-derived melanomas.
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