A Case of Myxoid Malignant Peripheral Nerve Sheath Tumor in a Patient With Carney Complex.

ABSTRACT: Background: Carney complex (CNC) is a group of disorders characterized by endocrine hyperactivity or tumors, abnormal skin pigmentation, myxomas of the skin and heart, and adrenocortical and pituitary tumors; in most cases, the disorder is inherited in an autosomal dominant manner. Case Presentation: We, herein, report a female patient who had undergone a total of seven left parotid tumor resections since the age of 45 years. At age 50, genetic testing confirmed a c.597del C (p. Phe200LeufsX6) mutation in the type-1α regulatory subunit of cAMP-dependent protein kinase (PRKAR1A); this led to a diagnosis of CNC for the patient and the patient's second and third daughters. At the age of 55, the left parotid gland became rapidly enlarged, and surgery was performed because

SUBMITTER: Kobayashi K 

PROVIDER: S-EPMC12331405 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature