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Familial Melanoma — SCE Dermatology MCQ

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HardSkin CancerFamilial MelanomaSCE Dermatology

A 65-year-old woman has melanoma with CDKN2A germline mutation identified on genetic testing. What is the significance of this finding?

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Correct answer: AIt indicates familial melanoma syndrome with increased risk of melanoma and pancreatic cancer in the family

The best answer is “It indicates familial melanoma syndrome with increased risk of melanoma and pancreatic cancer in the family”. NICE bases melanoma diagnosis, excision margins and nodal assessment on complete histology, Breslow thickness, ulceration and clinical stage, with specialist review of suspicious or changing lesions. The alternatives “It protects against melanoma recurrence, after specialist assessment, when the full phenotype supports it”, “It has no clinical significance, when the full phenotype supports it, within an appropriate UK pathway”, “It indicates BRAF mutation presence, within an appropriate UK pathway, after clinicopathological correlation, after specialist assessment”, “It indicates sporadic melanoma, after clinicopathological correlation, after specialist assessment, when the full phenotype supports it” are clinically adjacent possibilities, but they do not fit the defining morphology, distribution, histopathology, risk signal or management sequence in this stem.

Reference: NICE NG14 melanoma recommendations: https://www.nice.org.uk/guidance/ng14/chapter/Recommendations