Neurofibromatosis Type 1 with the Development of Pheochromocytoma and Breast Cancer

Intern Med. 2020 Jul 1;59(13):1665-1669. doi: 10.2169/internalmedicine.4148-19. Epub 2020 Apr 9.

Abstract

A 40-year-old woman presented with a left adrenal incidentaloma. Based on the presence of café-au-lait spots, cutaneous neurofibroma, and family history, she was diagnosed with neurofibromatosis type 1 (NF1). Adrenal incidentaloma screening showed an elevated normetanephrine level; the left adrenal mass showed the uptake of I-123 meta-iodobenzylguanidine. She underwent left adrenalectomy, and pheochromocytoma was diagnosed. One year later, the results of a biopsy of a palpable mass in the left breast suggested invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy followed by left breast-conserving surgery. We herein report a rare case of an NF1 patient who developed both pheochromocytoma and breast cancer.

Keywords: breast cancer; neurofibromatosis type 1; pheochromocytoma.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Neoplasms / complications*
  • Adrenal Gland Neoplasms / surgery
  • Adrenalectomy
  • Adult
  • Biopsy
  • Breast Neoplasms / complications*
  • Breast Neoplasms / therapy
  • Cafe-au-Lait Spots / pathology
  • Female
  • Humans
  • Incidental Findings
  • Neurofibromatosis 1 / complications*
  • Pheochromocytoma / complications*
  • Skin Neoplasms / pathology

Supplementary concepts

  • Adrenal incidentaloma