Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg

TY - JOUR

T1 - Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg

AU - Friedrich, Reinhard E

AU - Hagel, Christian

AU - Kohlrusch, Felix K

AU - Schanze, Ina

AU - Wieland, Ilse

AU - Zenker, Martin

N1 - Copyright© 2020, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

PY - 2020/6

Y1 - 2020/6

N2 - BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease with complete penetrance and a very variable phenotype. Recent research has shown that postzygotic NF1 gene mutations occur to a far greater extent than previously thought. The phenotype of affected individuals reflects the time of somatic mutation and the phenotype is correspondingly diverse. This report describes histological and genetic findings in a case of mosaic NF1, the clinical control of which documents almost stationary skin findings over a period of 9 years.CASE REPORT: The 55-year-old female first presented for advice on a strip of nodular skin tumours of the calf skin. She had no hallmarks of NF1. It was only 9 years later that she had the skin tumours removed, all of which were partially diffuse and partially plexiform neurofibroma. The genetic examination showed an atypical large deletion of the NF1 gene in the skin tumours, but not in overlying skin or blood.CONCLUSION: Segmental NF1 is a distinct type of mosaic/somatic NF1 mutation. The phenotype of diffuse and plexiform skin neurofibromas can resemble cutaneous neurofibroma. Surgical therapy for segmental neurofibromatosis does not differ from the concepts for treating nerve sheath tumours in NF1 patients with a germline NF1 mutation.

AB - BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease with complete penetrance and a very variable phenotype. Recent research has shown that postzygotic NF1 gene mutations occur to a far greater extent than previously thought. The phenotype of affected individuals reflects the time of somatic mutation and the phenotype is correspondingly diverse. This report describes histological and genetic findings in a case of mosaic NF1, the clinical control of which documents almost stationary skin findings over a period of 9 years.CASE REPORT: The 55-year-old female first presented for advice on a strip of nodular skin tumours of the calf skin. She had no hallmarks of NF1. It was only 9 years later that she had the skin tumours removed, all of which were partially diffuse and partially plexiform neurofibroma. The genetic examination showed an atypical large deletion of the NF1 gene in the skin tumours, but not in overlying skin or blood.CONCLUSION: Segmental NF1 is a distinct type of mosaic/somatic NF1 mutation. The phenotype of diffuse and plexiform skin neurofibromas can resemble cutaneous neurofibroma. Surgical therapy for segmental neurofibromatosis does not differ from the concepts for treating nerve sheath tumours in NF1 patients with a germline NF1 mutation.

KW - Biopsy

KW - Female

KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Humans

KW - Leg/pathology

KW - Middle Aged

KW - Mosaicism

KW - Neurofibroma, Plexiform/diagnosis

KW - Neurofibromatosis 1/diagnosis

KW - Skin Neoplasms/diagnosis

U2 - 10.21873/anticanres.14327

DO - 10.21873/anticanres.14327

M3 - SCORING: Journal article

C2 - 32487640

VL - 40

SP - 3423

EP - 3427

JO - ANTICANCER RES

JF - ANTICANCER RES

SN - 0250-7005

IS - 6

ER -