W43X SDHD mutation in sporadic head and neck paraganglioma.

To analyze the presence of SDHD gene mutations in patients with sporadic head and neck paraganglioma.The presence of somatic and germline SDHD mutations was investigated in 10 patients by polymerase chain reaction and direct sequencing.Two patients displayed mutations: 259C>T (P87S) in 1 case and 129G>A (W43X) in the other. The first was considered a neutral polymorphism. The second was present in the germline of 1 of her sons, who had an apparently unrelated testicular seminoma and loss of heterozygosity (LOH) in the tumor cells.This is the first reported case of an SDHD mutation carrier showing LOH in a testicular seminoma.