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Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review
Author(s) -
Fujii Katsunori,
Miyashita Toshiyuki
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12461
Subject(s) - nevoid basal cell carcinoma syndrome , hedgehog signaling pathway , patched , hedgehog , medicine , basal cell nevus syndrome , missense mutation , cancer research , population , medulloblastoma , basal cell carcinoma , genetics , phenotype , biology , pathology , signal transduction , basal cell , gene , environmental health
Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is an autosomal dominant neurocutaneous disease characterized by developmental anomalies such as palmar pits and rib anomaly, and tumorigenesis such as medulloblastoma and basal cell carcinoma. This syndrome is mainly caused by a mutation of PTCH 1 , a human homologue of D rosophila patched , including frameshift, missense, or nonsense mutations. Genotype–phenotype correlation has not been established. PTCH 1 is a member of hedgehog signaling, which is a highly conserved pathway in vertebrates, composed of hedgehog, SMO , and GLI proteins as well as PTCH 1. Given that hedgehog signaling regulates cell growth and development, disorder of this pathway gives rise to not only developmental anomalies but also diverse tumors such as those seen in G orlin syndrome. We recently reported, for the first time, a nationwide survey of G orlin syndrome in J apan, noting that the frequency was 1/235 800 in the J apanese population, and that the frequency of basal cell carcinomas was significantly lower in J apan than in the USA and E urope, suggesting that ethnicity and genetic background contribute to these differences. Given that many clinical trials using newly discovered molecular inhibitors are still ongoing, these agents should become the new therapeutic options for hedgehog pathway‐dependent tumors in patients with or without G orlin syndrome.