Alisa M Goldstein, Richard Qin, Emily Y Chu, David E Elder, Daniela Massi, David J Adams, Paul W Harms, Carla Daniela Robles-Espinoza, Julia A Newton-Bishop, D Timothy Bishop, Mark Harland, Elizabeth A Holland, Anne E Cust, Helen Schmid, Graham J Mann, Susana Puig, Miriam Potrony, Llucia Alos, Eduardo Nagore, David Millán-Esteban, Nicholas K Hayward, Natasa Broit, Jane M Palmer, Vaishnavi Nathan, Elizabeth G Berry, Esteban Astiazaran-Symonds, Xiaohong R Yang, Margaret A Tucker, Maria Teresa Landi, Ruth M Pfeiffer, Michael R Sargen
BACKGROUND: Spitzoid morphology in familial melanoma has been associated with germline variants in POT1 , a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation. OBJECTIVE: To assess if familial melanoma cases associated with germline variants in TMG ( POT1 , ACD , TERF2IP , and TERT ) commonly exhibit spitzoid morphology. METHODS: In this case series, melanomas were classified as having spitzoid morphology if at least 3 of 4 dermatopathologists reported this finding in ≥25% of tumor cells...
June 2023: JAAD international