Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype.

Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype.

Publication date: May 26, 2020

MC1R polymorphisms interact with CDKN2A mutations modulating melanoma risk and contribute to a less suspicious clinical and dermoscopic appearance of melanomas. Different strategies, including dermoscopic comparative approach and digital monitoring, are used for the melanoma diagnosis in this context.

To analyse the diagnostic accuracy of the morphologic approach and comparative approach in dermoscopy, to detect melanoma in familial melanoma (FamMM) patients according to different genetic backgrounds.

Two independent readers evaluated 415 lesions belonging to 25 FamMM: 26 melanomas (62% in situ, 36% early invasive) and 389 nevi, blinded for dermoscopic and histopathologic diagnosis, following two different steps. First step-Randomized: all lesions were randomly located in one single folder. Second step-Comparative approach: the lesions were clustered by patient. Sensitivity, specificity, and number needed to excise (NNE) for melanoma diagnosis were calculated for both diagnostic strategies. Sensitivity and specificity were also assessed regarding the genetic background.

The comparative approach showed lower sensitivity compared to the morphologic approach (69.2 and 73.1 vs. 76.9 both readers) but better specificity (95.9 and 95.1 vs. 84.3 and 90.2, respectively). NNE was better in the comparative approach. The readers had more difficulties diagnosing lesions from CDKN2A mutation carriers with red hair colour (RHC) MC1R variants.

The comparative approach can be useful in high risk patients to decrease the NNE. Early melanomas in CDKN2A carriers with RHC polymorphisms are more difficult to diagnose even with the comparative approach and benefit from the detection of changes during digital dermoscopy monitoring for early diagnosis.

Concepts Keywords
Dermoscopy Excise NNE melanoma
Digital FamMM melanomas
Excise Early invasive nevi
Genetic Cutaneous conditions
Genotype Organ systems
Histopathologic Branches of biology
Interact Melanoma
MC1R Dermatoscopy
Melanoma Dysplastic nevus syndrome
Melanomas Melanocortin 1 receptor
Morphologic CDKN2A
Mutation Genotype


Type Source Name
disease MESH diagnosis
disease MESH melanoma
pathway KEGG Melanoma
disease MESH nevi
drug DRUGBANK Tropicamide

Original Article

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