2026-04-29T22:57:43Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/260572025-12-18T12:55:49Zcom_20.500.12105_2327com_20.500.12105_2290col_20.500.12105_16991

00925njm 22002777a 4500 dc Toledo, Rodrigo A author Burnichon, Nelly author Cascon Soriano, Alberto author Benn, Diana E author Bayley, Jean-Pierre author Welander, Jenny author Tops, Carli M author Firth, Helen author Dwight, Trish author Ercolino, Tonino author Mannelli, Massimo author Opocher, Giuseppe author Clifton-Bligh, Roderick author Gimm, Oliver author Maher, Eamonn R author Robledo Batanero, Mercedes author Gimenez-Roqueplo, Anne-Paule author Dahia, Patricia L M author 2017-04 Phaeochromocytomas and paragangliomas (PPGLs) are neural-crest-derived tumours of the sympathetic or parasympathetic nervous system that are often inherited and are genetically heterogeneous. Genetic testing is recommended for patients with these tumours and for family members of patients with hereditary forms of PPGLs. Due to the large number of susceptibility genes implicated in the diagnosis of inherited PPGLs, next-generation sequencing (NGS) technology is ideally suited for carrying out genetic screening of these individuals. This Consensus Statement, formulated by a study group comprised of experts in the field, proposes specific recommendations for the use of diagnostic NGS in hereditary PPGLs. In brief, the study group recommends target gene panels for screening of germ line DNA, technical adaptations to address different modes of disease transmission, orthogonal validation of NGS findings, standardized classification of variant pathogenicity and uniform reporting of the findings. The use of supplementary assays, to aid in the interpretation of the results, and sequencing of tumour DNA, for identification of somatic mutations, is encouraged. In addition, the study group launches an initiative to develop a gene-centric curated database of PPGL variants, with annual re-evaluation of variants of unknown significance by an expert group for purposes of reclassification and clinical guidance. Nat Rev Endocrinol . 2017 Apr;13(4):233-247. Nature Review Endocrinology 27857127 https://hdl.handle.net/20.500.12105/26057 RENAL-CELL CARCINOMA GERMLINE MUTATIONS SPORADIC PHEOCHROMOCYTOMA SOMATIC MUTATIONS HIF2A MUTATIONS GENE-MUTATIONS SDHX MUTATIONS COMPLEX-II ACMG RECOMMENDATIONS QUALITY CONTROL Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.