Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report

Exp Clin Endocrinol Diabetes. 2007 Oct;115(9):616-8. doi: 10.1055/s-2007-984436.

Abstract

Pheochromocytomas are rare catecholamine-secreting, chromaffin tumors of the autonomic nervous system. Most pheochromocytomas are sporadic, but up to 24% of pheochromocytomas are part of a familial disorder. Here we describe a female patient, who presented to our outpatient clinic 18 years after removal of a pheochromocytoma of the left adrenal gland in China. Now she reported flank pain on the left side and elevated blood pressure. 24-hour urinary catecholamines, metanephrines, and normetanephrines as well as plasma-norepinephrine were elevated. The transabdominal ultrasonography revealed a tumor with reduced echogenicity in the left suprarenal region, which was suspected to be a recurrent pheochromocytoma. This finding was confirmed by MRT and J (123)-MIBG-scan. Parathyroid hormone (PTH) and calcitonin were in the normal range. After surgical excision, histological examination of the adrenal mass proved to be a pheochromocytoma. Molecular genetic analysis with sequencing of the succinate dehydrogenase type B (SDHB) gene revealed a formerly unknown mutation of codon 214 (CAG-->TAG) leading to an amino acid change of glutamine to a stop-Codon (Q214X-mutation) in exon 6. This case report highlights the necessity of re-evaluating patients with nonsyndromic pheochromocytoma who are diagnosed without genetic testing to estimate the risk of a relapse and to initiate testing of first-degree relatives.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Neoplasms / genetics*
  • Adrenal Gland Neoplasms / surgery
  • Adult
  • DNA, Neoplasm / chemistry
  • DNA, Neoplasm / genetics
  • Female
  • Humans
  • Iron-Sulfur Proteins / chemistry
  • Iron-Sulfur Proteins / genetics*
  • Male
  • Neoplasm Recurrence, Local / genetics*
  • Neoplasm Recurrence, Local / surgery
  • Pedigree
  • Pheochromocytoma / genetics*
  • Pheochromocytoma / surgery
  • Point Mutation*
  • Sequence Analysis, DNA
  • Succinate Dehydrogenase / chemistry
  • Succinate Dehydrogenase / genetics*

Substances

  • DNA, Neoplasm
  • Iron-Sulfur Proteins
  • SDHB protein, human
  • Succinate Dehydrogenase