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Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case–control study
Author(s) -
TábuasPereira Miguel,
Almendra Luciano,
Almeida Maria Rosário,
Durães João,
Pinho André,
Matos Anabela,
Negrão Luis,
Geraldo Argemiro,
Santana Isabel
Publication year - 2019
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26383
Subject(s) - c9orf72 , amyotrophic lateral sclerosis , frontotemporal lobar degeneration , medicine , odds ratio , melanoma , trinucleotide repeat expansion , pathological , frontotemporal dementia , oncology , pathology , disease , dementia , allele , genetics , biology , gene , cancer research
: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma. Methods : We selected patients with a diagnosis in the ALS‐FTLD spectrum who were tested for pathogenic mutations. Medical history was reviewed, to identify those with pathologically documented melanomas. Results : We included 189 patients. Sixty‐two had identified pathogenic mutations (39 C9ORF72 ). C9ORF72 carriers had a significantly higher risk of melanoma (odds ratio = 24.709; P < 0.007). There was no association with phenotype. Conclusions : These findings suggest that patients with a history of melanoma may have an increased probability of carrying a C9ORF72 repeat expansion. ALS or FTLD carriers of C9ORF72 should undergo surveillance for skin changes. Muscle Nerve 59 :362–365, 2019