Author/Editor		Zevnik, Katarina; Blatnik, Ana; Novaković, Srdjan; Hribernik, Nežka
Title		CDKN2A-positive melanoma patient treated with combination immunotherapy
Type		članek
Vol. and No.		, št. Vol. 4
Publication year		2022
Volume		str. [1-5]
ISSN		2667-3940
Language		eng
Abstract		Germline aberrations in the CDKN2A gene are observed in 20%‐40% of families susceptible to melanoma. Positive CDKN2A status is associated with early age of onset of melanoma, multiple primary melanomas, and pancreatic cancer. We report here a melanoma patient with a germline mutation c.68G>A p.(Gly23Asp) in CDKN2A who had a history of multiple cutaneous melanomas and a family history consistent with familial atypical multiple mole melanoma (FAMMM) syndrome. He developed oligometastatic disease with BRAF-positive melanoma metastases in soft tissue and gallbladder and was treated with surgical resection followed by combination therapy of PD-1 and CTLA-4 immune checkpoint inhibitor, which resulted in good remission. Molecular analysis of all primary melanomas and both metastatic sites revealed the same BRAF c.1799T>A p.(Val600Glu) V600E mutations.
Keywords		melanom kožni rak imunoterapija molekularna analiza melanoma skin cancer immunotherapy molecular analysis