Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer.
Myotonic muscular dystrophy (MMD) is caused by an abnormal function of RNA-binding proteins (RBP) resulting in DNA spliceopathy. A case of a patient, with MMD multiple basal and squamous cell carcinomas and dysplastic nevi, is described. The association between MMD and non-melanoma skin cancer has been reported before; however, this association was described before the genetic defect of myotonic dystrophy has been fully elucidated. The author proposes a genetic mechanism on how abnormal function of RBP can result or contribute to the development of human skin cancer and propose an explanation for this association between MMD and cutaneous carcinogenesis.
Zemtsov
Alexander
A
Department of Clinical Dermatology, Indiana University School of Medicine, 2525 University Avenue, Muncie, IN 47303, USA. azemtsov@iupui.edu
D000328:Adult; D002280:Basal Cell Carcinoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D002471:Cell Transformation, Neoplastic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004249:DNA Damage; D004260:DNA Repair; D004416:Dysplastic Nevus Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D012878:Skin Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000601:surgery
D016601:RNA-Binding Proteins