Ontology highlight
ABSTRACT: 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. Logistic regression was used to calculate odds ratios (OR) of spitzoid morphology compared to familial melanomas from unmatched noncarriers that were previously reviewed by a National Cancer Institute dermatopathologist.Results
Spitzoid morphology was observed in 77% (23 of 30), 75% (3 of 4), 50% (2 of 4), and 50% (1 of 2) of melanomas from individuals with germline variants in POT1, TERF2IP, ACD, and TERT, respectively. Compared to noncarriers (n = 139 melanomas), POT1 carriers (OR = 225.1, 95% confidence interval: 51.7-980.5; P < .001) and individuals with TERF2IP, ACD, and TERT variants (OR = 82.4, 95% confidence interval: 21.3-494.6; P < .001) had increased odds of spitzoid morphology.Limitations
Findings may not be generalizable to nonfamilial melanoma cases.Conclusion
Spitzoid morphology in familial melanoma could suggest germline alteration of TMG.
SUBMITTER: Goldstein AM
PROVIDER: S-EPMC9978843 | biostudies-literature | 2023 Jun
REPOSITORIES: biostudies-literature
JAAD international 20230130
<h4>Background</h4>Spitzoid morphology in familial melanoma has been associated with germline variants in <i>POT1</i>, a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation.<h4>Objective</h4>To assess if familial melanoma cases associated with germline variants in TMG (<i>POT1</i>, <i>ACD</i>, <i>TERF2IP</i>, and <i>TERT</i>) commonly exhibit spitzoid morphology.<h4>Methods</h4>In this case series, melanomas were classified as having spitzoid ...[more]