Vulvar Melanomda c-KIT Gen Varyantı Moleküler Tedavi için Bir Şans Olabilir mi? A Variant of the c-KIT gene in Vulvar Melanoma May Be a Chance of Molecular Therapy?

Öz

Vulvar nodüler melanom, nadir görülen bir vulvar kanserdir. Bu vakada meme kanseri öyküsü ile opere olmuş vulvar nodüler melanomlu bir hastayı sunduk. Olgu sunumu, patoloji, tıbbi genetik ve tedavisini yönlendiren jinekoljik onkoloji tarafından derlenmiştir. Hastada, yeni nesil DNA sekans teknolojisi ile somatik mutasyon paneli çalışılmıştır. Moleküler genetik analiz sonuçlarına göre, metastatik melanomda terapötik bir hedefi olan c-KIT geninin patojenik bir varyantını tespit ettik. Vulvar nodular melanoma is a rare type of vulvar cancer. We reported a patient with vulvar nodular melanoma who had previously been operated on breast cancer. The case was prepared to share pathological and medical genetic examinations and treatment of this case with professionals dealing with oncology. We studied somatic mutation panel on biopsy material by next gene DNA sequence technology. According to molecular genetics data, a pathogenic variant of the c-KIT gene was detected which had a therapeutic target in metastatic melanoma.

Anahtar Kelimeler

• Breast cancer
• c-KIT gene
• vulvar melanoma

Kaynakça

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