A case of neurofibromatosis type 1 coinciding with bilateral pheochromocytomas, multiple gastrointestinal stromal tumors, and malignant peripheral nerve sheath tumor

Intern Med. 2012;51(12):1531-6. doi: 10.2169/internalmedicine.51.6385. Epub 2012 Jun 15.

Abstract

Neurofibromatosis type 1 (NF1) is associated with benign and malignant neoplasms, but the coincidence of abdominal neoplasms is rare. A 65-year-old woman with NF1 had episodes of nausea, tachycardia, hypertension, and loss of consciousness. Bilateral adrenal tumors were detected by abdominal computed tomography, and plasma and urinary catecholamine levels were elevated. Open bilateral adrenalectomy and histological findings revealed bilateral pheochromocytomas (PCCs). Furthermore, malignant peripheral nerve sheath tumor (MPNST) and multiple gastrointestinal stromal tumors (GISTs) were incidentally found in the abdominal cavity. Early diagnosis of abdominal neoplasms in NF1 patients is important because of the risk of malignancy, organic complications and hemorrhagic-obstructive complications.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adrenal Gland Neoplasms / pathology*
  • Aged
  • Female
  • Gastrointestinal Neoplasms / pathology*
  • Gastrointestinal Stromal Tumors / pathology*
  • Humans
  • Nerve Sheath Neoplasms / pathology*
  • Neurofibromatosis 1 / pathology*
  • Pheochromocytoma / pathology*