Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.
Identifieur interne : 000F25 ( Main/Exploration ); précédent : 000F24; suivant : 000F26Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.
Auteurs : Rodrigo A. Toledo [États-Unis] ; Nelly Burnichon [France] ; Alberto Cascon [Espagne] ; Diana E. Benn [Australie] ; Jean-Pierre Bayley [Pays-Bas] ; Jenny Welander [Suède] ; Carli M. Tops [Pays-Bas] ; Helen Firth [Royaume-Uni] ; Trish Dwight [Australie] ; Tonino Ercolino [Italie] ; Massimo Mannelli [Italie] ; Giuseppe Opocher [Italie] ; Roderick Clifton-Bligh [Australie] ; Oliver Gimm [Suède] ; Eamonn R. Maher [Royaume-Uni] ; Mercedes Robledo [Espagne] ; Anne-Paule Gimenez-Roqueplo [France] ; Patricia L M. Dahia [États-Unis]Source :
- Nature reviews. Endocrinology [ 1759-5037 ] ; 2017.
Descripteurs français
- KwdFr :
- Conférences de consensus comme sujet, Dépistage génétique (), Dépistage génétique (tendances), Humains, Paragangliome (diagnostic), Paragangliome (génétique), Phéochromocytome (diagnostic), Phéochromocytome (génétique), Prédisposition génétique à une maladie (génétique), Séquençage nucléotidique à haut débit (), Séquençage nucléotidique à haut débit (tendances), Tumeurs de la surrénale (diagnostic), Tumeurs de la surrénale (génétique).
- MESH :
- diagnostic : Paragangliome, Phéochromocytome, Tumeurs de la surrénale.
- génétique : Paragangliome, Phéochromocytome, Prédisposition génétique à une maladie, Tumeurs de la surrénale.
- tendances : Dépistage génétique, Séquençage nucléotidique à haut débit.
- Conférences de consensus comme sujet, Dépistage génétique, Humains, Séquençage nucléotidique à haut débit.
English descriptors
- KwdEn :
- Adrenal Gland Neoplasms (diagnosis), Adrenal Gland Neoplasms (genetics), Consensus Development Conferences as Topic, Genetic Predisposition to Disease (genetics), Genetic Testing (methods), Genetic Testing (trends), High-Throughput Nucleotide Sequencing (methods), High-Throughput Nucleotide Sequencing (trends), Humans, Paraganglioma (diagnosis), Paraganglioma (genetics), Pheochromocytoma (diagnosis), Pheochromocytoma (genetics).
- MESH :
- diagnosis : Adrenal Gland Neoplasms, Paraganglioma, Pheochromocytoma.
- genetics : Adrenal Gland Neoplasms, Genetic Predisposition to Disease, Paraganglioma, Pheochromocytoma.
- methods : Genetic Testing, High-Throughput Nucleotide Sequencing.
- trends : Genetic Testing, High-Throughput Nucleotide Sequencing.
- Consensus Development Conferences as Topic, Humans.
Abstract
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.
DOI: 10.1038/nrendo.2016.185
PubMed: 27857127
Affiliations:
- Australie, Espagne, France, Italie, Pays-Bas, Royaume-Uni, Suède, États-Unis
- Angleterre, Angleterre de l'Est, Communauté de Madrid, Nouvelle-Galles du Sud, Île-de-France
- Cambridge, Madrid, Paris, Sydney
- Université Paris-Descartes, Université de Cambridge, Université de Sydney
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Le document en format XML
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Box 9600, 2300 RC Leiden, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden</wicri:regionArea><wicri:noRegion>2300 RC Leiden</wicri:noRegion></affiliation></author><author><name sortKey="Welander, Jenny" sort="Welander, Jenny" uniqKey="Welander J" first="Jenny" last="Welander">Jenny Welander</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical and Experimental Medicine, Linköping University, 58183 Linköping, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical and Experimental Medicine, Linköping University, 58183 Linköping</wicri:regionArea><wicri:noRegion>58183 Linköping</wicri:noRegion></affiliation></author><author><name sortKey="Tops, Carli M" sort="Tops, Carli M" uniqKey="Tops C" first="Carli M" last="Tops">Carli M. 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Florence, Viale GB Morgagni 50, 50134, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Viale GB Morgagni 50, 50134, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Mannelli, Massimo" sort="Mannelli, Massimo" uniqKey="Mannelli M" first="Massimo" last="Mannelli">Massimo Mannelli</name><affiliation wicri:level="1"><nlm:affiliation>Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Viale GB Morgagni 50, 50134, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Viale GB Morgagni 50, 50134, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Opocher, Giuseppe" sort="Opocher, Giuseppe" uniqKey="Opocher G" first="Giuseppe" last="Opocher">Giuseppe Opocher</name><affiliation wicri:level="1"><nlm:affiliation>Familial Cancer Clinic, Veneto Institute of Oncology, IRCCS, Via Gattamelata, 64 Padova, Veneto 35128, Padova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Familial Cancer Clinic, Veneto Institute of Oncology, IRCCS, Via Gattamelata, 64 Padova, Veneto 35128, Padova</wicri:regionArea><wicri:noRegion>Padova</wicri:noRegion></affiliation></author><author><name sortKey="Clifton Bligh, Roderick" sort="Clifton Bligh, Roderick" uniqKey="Clifton Bligh R" first="Roderick" last="Clifton-Bligh">Roderick Clifton-Bligh</name><affiliation wicri:level="4"><nlm:affiliation>Cancer Genetics Unit, Kolling Institute, Royal North Shore Hospital, St Leonards, University of Sydney, Reserve Road, St Leonards, Sydney, New South Wales 2065, Australia.</nlm:affiliation><country 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Toledo</name><affiliation wicri:level="1"><nlm:affiliation>Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), 7703 Floyd Curl Drive, MC7880, San Antonio, Texas 78229, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), 7703 Floyd Curl Drive, MC7880, San Antonio, Texas 78229</wicri:regionArea><wicri:noRegion>Texas 78229</wicri:noRegion></affiliation></author><author><name sortKey="Burnichon, Nelly" sort="Burnichon, Nelly" uniqKey="Burnichon N" first="Nelly" last="Burnichon">Nelly Burnichon</name><affiliation wicri:level="4"><nlm:affiliation>Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, 20 Rue Leblanc, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, 20 Rue Leblanc, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Cascon, Alberto" sort="Cascon, Alberto" uniqKey="Cascon A" first="Alberto" last="Cascon">Alberto Cascon</name><affiliation wicri:level="3"><nlm:affiliation>Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO) and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Calle de Melchor Fernández Almagro, 3, 28029, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO) and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Calle de Melchor Fernández Almagro, 3, 28029, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Benn, Diana E" sort="Benn, Diana E" uniqKey="Benn D" first="Diana E" last="Benn">Diana E. Benn</name><affiliation wicri:level="4"><nlm:affiliation>Cancer Genetics Unit, Kolling Institute, Royal North Shore Hospital, St Leonards, University of Sydney, Reserve Road, St Leonards, Sydney, New South Wales 2065, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Genetics Unit, Kolling Institute, Royal North Shore Hospital, St Leonards, University of Sydney, Reserve Road, St Leonards, Sydney, New South Wales 2065</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Bayley, Jean Pierre" sort="Bayley, Jean Pierre" uniqKey="Bayley J" first="Jean-Pierre" last="Bayley">Jean-Pierre Bayley</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden</wicri:regionArea><wicri:noRegion>2300 RC Leiden</wicri:noRegion></affiliation></author><author><name sortKey="Welander, Jenny" sort="Welander, Jenny" uniqKey="Welander J" first="Jenny" last="Welander">Jenny Welander</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical and Experimental Medicine, Linköping University, 58183 Linköping, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical and Experimental Medicine, Linköping University, 58183 Linköping</wicri:regionArea><wicri:noRegion>58183 Linköping</wicri:noRegion></affiliation></author><author><name sortKey="Tops, Carli M" sort="Tops, Carli M" uniqKey="Tops C" first="Carli M" last="Tops">Carli M. Tops</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden</wicri:regionArea><wicri:noRegion>2300 RC Leiden</wicri:noRegion></affiliation></author><author><name sortKey="Firth, Helen" sort="Firth, Helen" uniqKey="Firth H" first="Helen" last="Firth">Helen Firth</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medical Genetics, University of Cambridge, Cambridge and NIHR Cambridge Biomedical Research Centre, Hills Road, Cambridge, CB2 0QQ, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medical Genetics, University of Cambridge, Cambridge and NIHR Cambridge Biomedical Research Centre, Hills Road, Cambridge, CB2 0QQ</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Dwight, Trish" sort="Dwight, Trish" uniqKey="Dwight T" first="Trish" last="Dwight">Trish Dwight</name><affiliation wicri:level="4"><nlm:affiliation>Cancer Genetics Unit, Kolling Institute, Royal North Shore Hospital, St Leonards, University of Sydney, Reserve Road, St Leonards, Sydney, New South Wales 2065, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Genetics Unit, Kolling Institute, Royal North Shore Hospital, St Leonards, University of Sydney, Reserve Road, St Leonards, Sydney, New South Wales 2065</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Ercolino, Tonino" sort="Ercolino, Tonino" uniqKey="Ercolino T" first="Tonino" last="Ercolino">Tonino Ercolino</name><affiliation wicri:level="1"><nlm:affiliation>Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Viale GB Morgagni 50, 50134, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Viale GB Morgagni 50, 50134, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Mannelli, Massimo" sort="Mannelli, Massimo" uniqKey="Mannelli M" first="Massimo" last="Mannelli">Massimo Mannelli</name><affiliation wicri:level="1"><nlm:affiliation>Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Viale GB Morgagni 50, 50134, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Viale GB Morgagni 50, 50134, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Opocher, Giuseppe" sort="Opocher, Giuseppe" uniqKey="Opocher G" first="Giuseppe" last="Opocher">Giuseppe Opocher</name><affiliation wicri:level="1"><nlm:affiliation>Familial Cancer Clinic, Veneto Institute of Oncology, IRCCS, Via Gattamelata, 64 Padova, Veneto 35128, Padova, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Familial Cancer Clinic, Veneto Institute of Oncology, IRCCS, Via Gattamelata, 64 Padova, Veneto 35128, Padova</wicri:regionArea><wicri:noRegion>Padova</wicri:noRegion></affiliation></author><author><name sortKey="Clifton Bligh, Roderick" sort="Clifton Bligh, Roderick" uniqKey="Clifton Bligh R" first="Roderick" last="Clifton-Bligh">Roderick Clifton-Bligh</name><affiliation wicri:level="4"><nlm:affiliation>Cancer Genetics Unit, Kolling Institute, Royal North Shore Hospital, St Leonards, University of Sydney, Reserve Road, St Leonards, Sydney, New South Wales 2065, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Genetics Unit, Kolling Institute, Royal North Shore Hospital, St Leonards, University of Sydney, Reserve Road, St Leonards, Sydney, New South Wales 2065</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Gimm, Oliver" sort="Gimm, Oliver" uniqKey="Gimm O" first="Oliver" last="Gimm">Oliver Gimm</name><affiliation wicri:level="1"><nlm:affiliation>Department of Surgery, Region Östergötland, Linköping University, 581 83 Linköping, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Surgery, Region Östergötland, Linköping University, 581 83 Linköping</wicri:regionArea><wicri:noRegion>581 83 Linköping</wicri:noRegion></affiliation></author><author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medical Genetics, University of Cambridge, Cambridge and NIHR Cambridge Biomedical Research Centre, Hills Road, Cambridge, CB2 0QQ, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medical Genetics, University of Cambridge, Cambridge and NIHR Cambridge Biomedical Research Centre, Hills Road, Cambridge, CB2 0QQ</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Robledo, Mercedes" sort="Robledo, Mercedes" uniqKey="Robledo M" first="Mercedes" last="Robledo">Mercedes Robledo</name><affiliation wicri:level="3"><nlm:affiliation>Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO) and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Calle de Melchor Fernández Almagro, 3, 28029, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO) and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Calle de Melchor Fernández Almagro, 3, 28029, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Gimenez Roqueplo, Anne Paule" sort="Gimenez Roqueplo, Anne Paule" uniqKey="Gimenez Roqueplo A" first="Anne-Paule" last="Gimenez-Roqueplo">Anne-Paule Gimenez-Roqueplo</name><affiliation wicri:level="4"><nlm:affiliation>Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, 20 Rue Leblanc, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, 20 Rue Leblanc, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Dahia, Patricia L M" sort="Dahia, Patricia L M" uniqKey="Dahia P" first="Patricia L M" last="Dahia">Patricia L M. Dahia</name><affiliation wicri:level="1"><nlm:affiliation>Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), 7703 Floyd Curl Drive, MC7880, San Antonio, Texas 78229, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), 7703 Floyd Curl Drive, MC7880, San Antonio, Texas 78229</wicri:regionArea><wicri:noRegion>Texas 78229</wicri:noRegion></affiliation></author></analytic><series><title level="j">Nature reviews. Endocrinology</title><idno type="eISSN">1759-5037</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adrenal Gland Neoplasms (diagnosis)</term><term>Adrenal Gland Neoplasms (genetics)</term><term>Consensus Development Conferences as Topic</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing (methods)</term><term>Genetic Testing (trends)</term><term>High-Throughput Nucleotide Sequencing (methods)</term><term>High-Throughput Nucleotide Sequencing (trends)</term><term>Humans</term><term>Paraganglioma (diagnosis)</term><term>Paraganglioma (genetics)</term><term>Pheochromocytoma (diagnosis)</term><term>Pheochromocytoma (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Conférences de consensus comme sujet</term><term>Dépistage génétique ()</term><term>Dépistage génétique (tendances)</term><term>Humains</term><term>Paragangliome (diagnostic)</term><term>Paragangliome (génétique)</term><term>Phéochromocytome (diagnostic)</term><term>Phéochromocytome (génétique)</term><term>Prédisposition génétique à une maladie (génétique)</term><term>Séquençage nucléotidique à haut débit ()</term><term>Séquençage nucléotidique à haut débit (tendances)</term><term>Tumeurs de la surrénale (diagnostic)</term><term>Tumeurs de la surrénale (génétique)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Adrenal Gland Neoplasms</term><term>Paraganglioma</term><term>Pheochromocytoma</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Paragangliome</term><term>Phéochromocytome</term><term>Tumeurs de la surrénale</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Adrenal Gland Neoplasms</term><term>Genetic Predisposition to Disease</term><term>Paraganglioma</term><term>Pheochromocytoma</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Paragangliome</term><term>Phéochromocytome</term><term>Prédisposition génétique à une maladie</term><term>Tumeurs de la surrénale</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term><term>High-Throughput Nucleotide Sequencing</term></keywords><keywords scheme="MESH" qualifier="tendances" xml:lang="fr"><term>Dépistage génétique</term><term>Séquençage nucléotidique à haut débit</term></keywords><keywords scheme="MESH" qualifier="trends" xml:lang="en"><term>Genetic Testing</term><term>High-Throughput Nucleotide Sequencing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Consensus Development Conferences as Topic</term><term>Humans</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Conférences de consensus comme sujet</term><term>Dépistage génétique</term><term>Humains</term><term>Séquençage nucléotidique à haut débit</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Espagne</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suède</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Communauté de Madrid</li><li>Nouvelle-Galles du Sud</li><li>Île-de-France</li></region><settlement><li>Cambridge</li><li>Madrid</li><li>Paris</li><li>Sydney</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université de Cambridge</li><li>Université de Sydney</li></orgName></list><tree><country name="États-Unis"><noRegion><name sortKey="Toledo, Rodrigo A" sort="Toledo, Rodrigo A" uniqKey="Toledo R" first="Rodrigo A" last="Toledo">Rodrigo A. Toledo</name></noRegion><name sortKey="Dahia, Patricia L M" sort="Dahia, Patricia L M" uniqKey="Dahia P" first="Patricia L M" last="Dahia">Patricia L M. Dahia</name></country><country name="France"><region name="Île-de-France"><name sortKey="Burnichon, Nelly" sort="Burnichon, Nelly" uniqKey="Burnichon N" first="Nelly" last="Burnichon">Nelly Burnichon</name></region><name sortKey="Gimenez Roqueplo, Anne Paule" sort="Gimenez Roqueplo, Anne Paule" uniqKey="Gimenez Roqueplo A" first="Anne-Paule" last="Gimenez-Roqueplo">Anne-Paule Gimenez-Roqueplo</name></country><country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Cascon, Alberto" sort="Cascon, Alberto" uniqKey="Cascon A" first="Alberto" last="Cascon">Alberto Cascon</name></region><name sortKey="Robledo, Mercedes" sort="Robledo, Mercedes" uniqKey="Robledo M" first="Mercedes" last="Robledo">Mercedes Robledo</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Benn, Diana E" sort="Benn, Diana E" uniqKey="Benn D" first="Diana E" last="Benn">Diana E. Benn</name></region><name sortKey="Clifton Bligh, Roderick" sort="Clifton Bligh, Roderick" uniqKey="Clifton Bligh R" first="Roderick" last="Clifton-Bligh">Roderick Clifton-Bligh</name><name sortKey="Dwight, Trish" sort="Dwight, Trish" uniqKey="Dwight T" first="Trish" last="Dwight">Trish Dwight</name></country><country name="Pays-Bas"><noRegion><name sortKey="Bayley, Jean Pierre" sort="Bayley, Jean Pierre" uniqKey="Bayley J" first="Jean-Pierre" last="Bayley">Jean-Pierre Bayley</name></noRegion><name sortKey="Tops, Carli M" sort="Tops, Carli M" uniqKey="Tops C" first="Carli M" last="Tops">Carli M. Tops</name></country><country name="Suède"><noRegion><name sortKey="Welander, Jenny" sort="Welander, Jenny" uniqKey="Welander J" first="Jenny" last="Welander">Jenny Welander</name></noRegion><name sortKey="Gimm, Oliver" sort="Gimm, Oliver" uniqKey="Gimm O" first="Oliver" last="Gimm">Oliver Gimm</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Firth, Helen" sort="Firth, Helen" uniqKey="Firth H" first="Helen" last="Firth">Helen Firth</name></region><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name></country><country name="Italie"><noRegion><name sortKey="Ercolino, Tonino" sort="Ercolino, Tonino" uniqKey="Ercolino T" first="Tonino" last="Ercolino">Tonino Ercolino</name></noRegion><name sortKey="Mannelli, Massimo" sort="Mannelli, Massimo" uniqKey="Mannelli M" first="Massimo" last="Mannelli">Massimo Mannelli</name><name sortKey="Opocher, Giuseppe" sort="Opocher, Giuseppe" uniqKey="Opocher G" first="Giuseppe" last="Opocher">Giuseppe Opocher</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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