Multiple roles of NF1 in the melanocyte lineage

Summary NF1 is a tumour suppressor gene, germline mutations of which lead to neurofibromatosis type 1 syndrome. Patients develop benign tumours from several types of cells including neural crest‐derived cells. NF1 somatic mutations also occur in 15% of sporadic melanoma, a cancer originating from me...

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Published inPigment cell and melanoma research Vol. 29; no. 4; pp. 417 - 425
Main Authors Larribère, Lionel, Utikal, Jochen
Format Journal Article
LanguageEnglish
Published England Blackwell Publishing Ltd 01.07.2016
Wiley Subscription Services, Inc
Subjects
Animals
cancer
Cell Lineage - genetics
Humans
melanocyte
Melanocytes - pathology
Melanoma
Melanoma - genetics
Melanoma - pathology
Melanoma, Cutaneous Malignant
Mutation
neurofibromatosis type 1
Neurofibromin 1 - genetics
NF1
Skin Neoplasms - genetics
Skin Neoplasms - pathology
NF1
neurofibromatosis type 1
melanoma
cancer
melanocyte
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Summary:Summary NF1 is a tumour suppressor gene, germline mutations of which lead to neurofibromatosis type 1 syndrome. Patients develop benign tumours from several types of cells including neural crest‐derived cells. NF1 somatic mutations also occur in 15% of sporadic melanoma, a cancer originating from melanocytes. Evidence now suggests the involvement of NF1 mutations in melanoma resistance to targeted therapies. Although NF1 is ubiquitously expressed, genetic links between NF1 and genes involved in melanocyte biology have been described, implying the lineage‐specific mechanisms. In this review, we summarize and discuss the latest advances related to the roles of NF1 in melanocyte biology and in cutaneous melanoma.
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ISSN:1755-1471
1755-148X
DOI:10.1111/pcmr.12488