Objective: To analyze the presence of SDHD gene mutations in patients with sporadic head and neck paraganglioma.
Study design: The presence of somatic and germline SDHD mutations was investigated in 10 patients by polymerase chain reaction and direct sequencing.
Results: 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.
Conclusion: This is the first reported case of an SDHD mutation carrier showing LOH in a testicular seminoma.