Abstract
RASopathies are a group of disorders characterized by mutations in the RAS-MAPK pathway. RAS-MAP signaling plays a critical role in cell differentiation, proliferation, and survival. Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1. Mosaic RASopathies can present as localized cutaneous lesions like epidermal nevi and nevus sebaceous, or more extensive conditions such as encephalocraniocutaneous lipomatosis. We review the heterogenous presentation of RAS mutations, discuss new targeted therapies, and highlight areas of uncertainty, including carcinogenesis risk and appropriate screening.
Copyright © 2020 Elsevier Inc. All rights reserved.
MeSH terms
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Costello Syndrome / diagnosis
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Costello Syndrome / genetics*
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Costello Syndrome / therapy
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Eye Diseases / diagnostic imaging
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Eye Diseases / genetics*
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Eye Diseases / therapy
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Germ-Line Mutation*
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Humans
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Lipomatosis / diagnostic imaging
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Lipomatosis / genetics*
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Lipomatosis / therapy
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MAP Kinase Signaling System / genetics*
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Molecular Targeted Therapy
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Monomeric GTP-Binding Proteins / genetics*
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Mutation
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Neurocutaneous Syndromes / diagnostic imaging
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Neurocutaneous Syndromes / genetics*
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Neurocutaneous Syndromes / therapy
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Neurofibromatosis 1 / diagnosis
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Neurofibromatosis 1 / genetics*
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Neurofibromatosis 1 / therapy
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Noonan Syndrome / diagnosis
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Noonan Syndrome / genetics*
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Noonan Syndrome / therapy
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Risk
Substances
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Monomeric GTP-Binding Proteins
Supplementary concepts
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Encephalocraniocutaneous lipomatosis