title: Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report.
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.
authors.affiliation: Department of Internal medicine I, Division Endocrinology, Johann Wolfgang Goethe-University, Frankfurt, Germany. juergen.reusch@kgu.de
authors.forename: J
authors.initials: J
authors.lastname: Reusch
authors.forename: C
authors.initials: C
authors.lastname: Haag
authors.forename: F
authors.initials: F
authors.lastname: Raue
authors.forename: K
authors.initials: K
authors.lastname: Badenhoop
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000601:surgery; D000328:Adult; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000235:genetics* / Q000601:surgery; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics* / Q000601:surgery; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D013385:Succinate Dehydrogenase / Q000737:chemistry / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D007506:Iron-Sulfur Proteins; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase