# Somatic gene variation profiles in geriatric and adult malignant melanoma patients

**Authors:** Busra Ekinci, Ibrahim Halil Erdogdu, Seda Orenay-Boyacioglu, Olcay Boyacioglu, Nesibe Kahraman-Cetin, Dilara Akin, Merve Turan, Canten Tataroglu

PMC · DOI: 10.3389/fonc.2025.1649387 · Frontiers in Oncology · 2025-10-10

## TL;DR

This study compares gene mutations in older and younger melanoma patients to inform healthcare policies.

## Contribution

The study reports the first somatic gene variation profiles in geriatric melanoma patients from Türkiye.

## Key findings

- Geriatric patients showed lower BRAF V600E mutation rates compared to adults.
- NRAS and NF1 mutations were common in both geriatric and adult groups.
- This is the first study of its kind in Türkiye.

## Abstract

Skin cancer is a highly heterogeneous disease affecting substantial geriatric individuals. Therefore, understanding gene variants and their presence in geriatric and adult skin cancer patient groups is valuable for the improvement of healthcare policies. The somatic variation profile in geriatric patients diagnosed with malignant melanoma (MM) was examined retrospectively by comparing them to the younger cases to reveal the clinical importance of the panel tests.

The study included all adult MM patients referred to Molecular Pathology Laboratory from Oncology Clinic between 2019 and 2023. The patients (n = 103) were chronologically divided into geriatric (≥65) and adult (<65 years) groups. The results of targeted next generation sequencing panel studied with probe-capture method were evaluated retrospectively.

Among the study cohort, 58 (56.31%) were male, 45 (43.69%) were female, and also 55 were in the geriatric age group, 48 were in the adult group with an overall mean age of 63.30 years. The most commonly encountered pathogenic variants in the geriatric MM group were BRAF V600E (14.55%) and V600K (7.27%) variants in Exon 15 followed by NRAS (9.09%), NF1 (9.09%), KIT (5.45%), KRAS (5.45%), CDKN2A (3.64%), and PTEN (3.63%). In the adult MM group, the most common pathogenic variants were BRAF V600E (39.58%) and V600K (8.33%) followed by NRAS (14.58%), NF1 (8.33%), PTEN (8.33%), BRCA2 (8.33%), and TP53 (4.17%).

Delineating the distribution of somatic variations in geriatric MM cases holds significant importance in the development of healthcare policies. These data are the first reported findings from Türkiye.

## Linked entities

- **Genes:** BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673], NRAS (NRAS proto-oncogene, GTPase) [NCBI Gene 4893], NF1 (neurofibromin 1) [NCBI Gene 4763], KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815], KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845], CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029], PTEN (phosphatase and tensin homolog) [NCBI Gene 5728], BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675], TP53 (tumor protein p53) [NCBI Gene 7157]
- **Diseases:** malignant melanoma (MONDO:0005105), skin cancer (MONDO:0002898)

## Full-text entities

- **Genes:** KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}, NRAS (NRAS proto-oncogene, GTPase) [NCBI Gene 4893] {aka ALPS4, CMNS, N-ras, NCMS, NRAS1, NS6}, NF1 (neurofibromin 1) [NCBI Gene 4763] {aka NFNS, VRNF, WSS}, BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, PTEN (phosphatase and tensin homolog) [NCBI Gene 5728] {aka 10q23del, BZS, CWS1, DEC, GLM2, MHAM}, KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815] {aka C-Kit, CD117, MASTC, PBT, SCFR}, CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029] {aka ARF, CAI2, CDK4I, CDKN2, CMM2, INK4}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}
- **Diseases:** MM (MESH:D008545), Skin cancer (MESH:D012878)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** V600E, V600K

## Full text

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## Figures

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## References

27 references — full list in the complete paper: https://tomesphere.com/paper/PMC12549232/full.md

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Source: https://tomesphere.com/paper/PMC12549232