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Erschienen in: Pathology & Oncology Research 4/2016

09.03.2016 | Original Article

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome

verfasst von: Attila Patócs, Nikoletta K. Lendvai, Henriett Butz, Istvan Liko, Zoltan Sapi, Nikolette Szucs, Geza Toth, Vince K Grolmusz, Peter Igaz, Miklos Toth, Károly Rácz

Erschienen in: Pathology & Oncology Research | Ausgabe 4/2016

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Abstract

Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare tumors, with heterogeneous genetic background. In up to 30 % of all, apparently sporadic Pheo/PGL cases germline mutations can be identified in one of the 15 genes representing genetic susceptibility for Pheo/PGL. Malignancy is rare but it frequently associates with SDHB mutations. Our aim was to determine the prevalence of germline SDHx, SDHAF2, MAX and TMEM127 mutations in Hungarian patients with apparently sporadic Pheo/PGLs. Mutation screening of the SDHx, SDHAF2, MAX and TMEM127 genes was performed in 82 Hungarian patients with apparently sporadic Pheo/PGL using PCR and bidirectional Sanger sequencing. Disease-causing germline mutations were identified in 11 patients, of which 4 SDHB and 2 TMEM127 mutations were novel. Earlier development of Pheo/PGL, more malignant phenotype and multiple tumors were observed in genetically positive cases especially in those with SDHB mutations. The presence of bilateral or multiple tumors was the most predictive for identification of a pathogenic mutation. Together with cases harboring germline RET, VHL and NF1 mutations, Hungarian patients with Pheo/PGL exhibit a heterogeneous mutation spectrum, indicating that all of the Pheo/PGL susceptibility genes should be tested. Novel genotype-phenotype associations revealed by our study may contribute to improvement of diagnostic approaches and may help to achieve a better clinical follow up for patients with Pheo/PGL.
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Metadaten
Titel
Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome
verfasst von
Attila Patócs
Nikoletta K. Lendvai
Henriett Butz
Istvan Liko
Zoltan Sapi
Nikolette Szucs
Geza Toth
Vince K Grolmusz
Peter Igaz
Miklos Toth
Károly Rácz
Publikationsdatum
09.03.2016
Verlag
Springer Netherlands
Erschienen in
Pathology & Oncology Research / Ausgabe 4/2016
Print ISSN: 1219-4956
Elektronische ISSN: 1532-2807
DOI
https://doi.org/10.1007/s12253-016-0050-0

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