Concomitant Occurrence of Segmental Neurofibromatosis and Lung Adenocarcinoma

Abstract

Neurofibromatosis type 1 (NF1) caused by a loss-of functional mutation in NF1 encoding neurofibromin is an autosomal dominant disorder characterized by café-au-lait spots, neurofibromas, intertriginous freckles, and Lisch nodules. Segmental neurofibromatosis (SN) represents a postzygotic mutation and loss of heterozygosity in neurofibromin. SN occurring in the elder persons may be associated with internal malignant tumors. Here, we reported a case of 58-year-old woman with concomitant occurrence of SN and lung adenocarcinoma. The onset of SN in aged persons would be a sign of concomitant occurrence of internal malignant tumors.