Long-term follow up of a "sporadic" unilateral pheochromocytoma revealing multiple endocrine neoplasia MEN2A-2 in an elderly woman

Endocr Pathol. 2003 Winter;14(4):375-82. doi: 10.1385/ep:14:4:375.

Abstract

A unilateral, apparently sporadic pheochromocytoma was removed from the right adrenal of a 73-yr-old Caucasian woman. At the time of surgery, germline DNA from the patient was not available. However, a continuous cell line (KNA) established from the tumor showed a heterozygous sequence variant TGC (cysteine) to TGG (tryptophan) in exon 10, codon 611 of the RET proto-oncogene. Subsequent genetic testing of the patient and her offspring revealed the same base-change in herself, one daughter, one son, and the only grandson, confirming hereditary disease classified as MEN2A-2. Clinical follow up of the patient revealed elevated serum calcitonin after 6 yr. Thyroidectomy was performed and revealed a small medullary thyroid carcinoma. The patient's children thus far show no evidence of MEN2, but C-cell hyperplasia has been diagnosed in the grandson. Our serendipitous finding of a MEN2A-2 mutation in a patient with initial diagnosis of late onset, unilateral, "sporadic" pheochromocytoma would argue for routine mutation screening of even elderly patients presenting with a pheochromocytoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adrenal Gland Neoplasms / genetics*
  • Aged
  • Calcitonin / blood
  • Carcinoma, Medullary / genetics
  • Carcinoma, Medullary / surgery
  • Female
  • Heterozygote
  • Humans
  • Male
  • Multiple Endocrine Neoplasia Type 2a / genetics*
  • Mutation
  • Pheochromocytoma / genetics*
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / surgery
  • Thyroidectomy
  • Tumor Cells, Cultured

Substances

  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Calcitonin
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases