Late diagnosis of metastatic pheochromocytoma in multiple endocrine neoplasia 2B with rapid clinical decline

BMJ Case Rep. 2021 Feb 4;14(2):e240488. doi: 10.1136/bcr-2020-240488.


Multiple endocrine neoplasia type 2B (MEN2B) is the rarest and most aggressive of the MEN syndromes. It is characterised by medullary thyroid cancer (MTC), pheochromocytoma, marfanoid body habitus, mucosal neuromas and colonic dysfunction. Patients typically present with chronic constipation and MTC in early childhood. We discuss an atypical late presentation of MEN2B in a 19-year-old man with chronic constipation since childhood admitted with acute spinal cord compression. He underwent emergent neurosurgical intervention followed by postoperative radiotherapy. Bone biopsy revealed metastatic pheochromocytoma. Thyroid nodule biopsy showed MTC. MIBG scan confirmed pheochromocytoma as the dominant malignancy. Germline testing revealed a RET mutation (p.M918T). He received one cycle of cyclophosphamide, vincristine and dacarbazine and subsequently developed a pathological right femur fracture requiring repair. Postoperative course was complicated by hypoxic respiratory failure requiring intubation. Imaging showed lymphangitic spread of disease in the lungs. He unfortunately did not respond to a short trial of sunitinib and transitioned to comfort care.

Keywords: adrenal disorders; endocrine cancer; thyroid disease.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Neoplasms / diagnosis*
  • Adult
  • Carcinoma, Neuroendocrine / complications*
  • Delayed Diagnosis*
  • Humans
  • Male
  • Multiple Endocrine Neoplasia Type 2b / diagnosis*
  • Mutation*
  • Neoplasms, Second Primary
  • Pheochromocytoma / surgery*
  • Spinal Cord Compression
  • Thyroid Neoplasms / complications*
  • Young Adult

Supplementary concepts

  • Thyroid cancer, medullary