naa a22 4500 510773540 CHVBK 20180411083222.0 cr unu---uuuuu 180411e20131201xx s 000 0 eng 10.1007/s12022-013-9269-4 doi (NATIONALLICENCE)springer-10.1007/s12022-013-9269-4 Usefulness of Negative and Weak-Diffuse Pattern of SDHB Immunostaining in Assessment of SDH Mutations in Paragangliomas and Pheochromocytomas [Elektronische Daten] [Esmeralda Castelblanco, Maria Santacana, Joan Valls, Aguirre de Cubas, Alberto Cascón, Mercedes Robledo, Xavier Matias-Guiu] This is a confirmatory study about usefulness of SDHB and SDHA immunostaining in assessment of SDH mutations in paragangliomas and pheochromocytomas. Paraganglioma/pheochromocytoma syndrome (PGL/PCC syndrome) consists of different entities, associated with germline mutations in five different genes: SDHD, SDHAF2, SDHC, SDHA and SDHB. It has been suggested that negative immunostaining of SDHB can be taken as an indicator of the presence of a mutation in one of the five SDH genes. We have performed SDHB and SDHA immunohistochemical staining in a series of paragangliomas and pheochromocytomas from 64 patients. The patients had been previously checked for mutations in SDHD, SDHC and SDHB, but also for mutation in RET and VHL. All 14 patients with SDH mutations (9 with SDHB and 5 with SDHD mutations) exhibited negative or weak-diffuse SDHB staining pattern in tumour tissue, whereas cells of the 23 RET mutated and 8 VHL mutated tumours showed a positive SDHB immunostaining. Sixteen of the patients that did not exhibit a mutation in any gene showed positive SDHB immunostaining in tumour tissue, while only three of the patients without mutation exhibited negative staining. All patients exhibited positive pattern of SDHA immunostaining. The results confirm the value of SDHB immunohistochemical status in assessment of germline mutations in PGL/PCC syndrome. Springer Science+Business Media New York, 2013 SDHB nationallicence Immunohistochemistry nationallicence Phaeochromocytoma nationallicence Paraganglioma nationallicence Castelblanco Esmeralda Department of Pathology and Molecular Genetics, and Research Laboratory, Arnau de Vilanova Universitary Hospital, University of Lleida IRBLLEIDA, Lleida, Spain aut Santacana Maria Department of Pathology and Molecular Genetics, and Research Laboratory, Arnau de Vilanova Universitary Hospital, University of Lleida IRBLLEIDA, Lleida, Spain aut Valls Joan Department of Pathology and Molecular Genetics, and Research Laboratory, Arnau de Vilanova Universitary Hospital, University of Lleida IRBLLEIDA, Lleida, Spain aut de Cubas Aguirre National Cancer Research Centre (CNIO), Hereditary Endocrine Cancer Group, Madrid, Spain aut Cascón Alberto National Cancer Research Centre (CNIO), Hereditary Endocrine Cancer Group, Madrid, Spain aut Robledo Mercedes National Cancer Research Centre (CNIO), Hereditary Endocrine Cancer Group, Madrid, Spain aut Matias-Guiu Xavier Department of Pathology and Molecular Genetics, and Research Laboratory, Arnau de Vilanova Universitary Hospital, University of Lleida IRBLLEIDA, Lleida, Spain aut Endocrine Pathology Springer US; http://www.springer-ny.com 24/4(2013-12-01), 199-205 1046-3976 24:4<199 2013 24 12022 https://doi.org/10.1007/s12022-013-9269-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12022-013-9269-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Castelblanco Esmeralda Department of Pathology and Molecular Genetics, and Research Laboratory, Arnau de Vilanova Universitary Hospital, University of Lleida IRBLLEIDA, Lleida, Spain aut NATIONALLICENCE 700 1- Santacana Maria Department of Pathology and Molecular Genetics, and Research Laboratory, Arnau de Vilanova Universitary Hospital, University of Lleida IRBLLEIDA, Lleida, Spain aut NATIONALLICENCE 700 1- Valls Joan Department of Pathology and Molecular Genetics, and Research Laboratory, Arnau de Vilanova Universitary Hospital, University of Lleida IRBLLEIDA, Lleida, Spain aut NATIONALLICENCE 700 1- de Cubas Aguirre National Cancer Research Centre (CNIO), Hereditary Endocrine Cancer Group, Madrid, Spain aut NATIONALLICENCE 700 1- Cascón Alberto National Cancer Research Centre (CNIO), Hereditary Endocrine Cancer Group, Madrid, Spain aut NATIONALLICENCE 700 1- Robledo Mercedes National Cancer Research Centre (CNIO), Hereditary Endocrine Cancer Group, Madrid, Spain aut NATIONALLICENCE 700 1- Matias-Guiu Xavier Department of Pathology and Molecular Genetics, and Research Laboratory, Arnau de Vilanova Universitary Hospital, University of Lleida IRBLLEIDA, Lleida, Spain aut NATIONALLICENCE 773 0- Endocrine Pathology Springer US; http://www.springer-ny.com 24/4(2013-12-01), 199-205 1046-3976 24:4<199 2013 24 12022 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer