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Updated: Jul 4, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
W43X SDHD mutation in sporadic head and neck paraganglioma
Hugo Galera-Ruiz1, Ricardo Gonzalez-Campora, Manuel Rey-Barrera
1Department of Otorhinolaryngology, Virgen Macarena Hospital, Sevilla, Spain.
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.
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