Pheochromocytoma is a
tumor that originates from the adrenal cortex and sympathetic chains. Most
pheochromocytomas are sporadic, whereas others occur as hereditary syndromes.
Familial pheochromocytoma has been frequently found in association with various mutations in genes of the
succinate dehydrogenase family. A 21-year-old Korean male presented with recurrent chest tightness, severe
headache, and
hypertension. He was diagnosed as
pheochromocytoma based on a 24-hour urine test, abdominal computed tomography, and (131)I-MIBG scintigraphy. Genomic
DNA was extracted from the patient's whole blood. Primers covering all the coding regions and flanking introns of
succinate dehydrogenase (SDH) B, C and D genes were designed and synthesized, and
a DNA sequence analysis was performed using the polymerase chain reaction. Direct sequencing of the SDHB gene revealed a deletion of
nucleotide 757 (
thymidine) in exon 7. This
thymidine deletion caused a shift in the reading frame that created a downstream stop
codon and a truncated product (p.Cys253ValfsX5). Although the patient had no family history of
pheochromocytoma, his father had the same mutation. We report a novel SDHB gene mutation from a Korean family with
pheochromocytoma. This is the first report of
pheochromocytoma with a confirmed SDHB germline mutation in Korea.