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Genomic analysis of melanoma evolution following a 30‐year disease‐free interval
Author(s) -
Miller Jerry J.,
Lofgren Kristopher A.,
Hughes Sarah R.,
Cash Steven E.,
Kenny Paraic A.
Publication year - 2017
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.12989
Subject(s) - melanoma , germline mutation , medicine , asymptomatic , lesion , disease , exome sequencing , population , germline , pathology , mutation , dermatology , biology , genetics , cancer research , gene , environmental health
Ultra‐late melanoma recurrence is infrequent, poorly understood and, in most cases, difficult to unambiguously distinguish from a new primary melanoma. We identified a patient with a second melanoma diagnosed after a 30‐year disease‐free interval, and sought to determine if this new lesion was a recurrence of the original melanoma. Here we report the genomic sequence analysis of the exomes of 2 melanoma lesions isolated from the same individual in 1985 and 2015, and their comparison to each other and to the germline DNA of the patient. Identification of many shared somatic mutations between these lesions proves a lineal relationship spanning 30 years. Unlike prior reports of ultra‐late melanoma recurrence, the availability of the original tumor and the use of comprehensive genomic analysis allowed us to confirm that the second lesion is truly a recurrence. We demonstrate the acquisition of numerous additional mutations during the 3 decade asymptomatic period. These data highlight the low but very long‐lasting risk of recurrence in this patient population.