Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.
Identifieur interne : 000B49 ( PubMed/Corpus ); précédent : 000B48; suivant : 000B50Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.
Auteurs : Jes Sloth Mathiesen ; Mouhammed Amir Habra ; John Howard Duncan Bassett ; Sirazum Mubin Choudhury ; Sabapathy Prakash Balasubramanian ; Trevor A. Howlett ; Bruce G. Robinson ; Anne-Paule Gimenez-Roqueplo ; Frederic Castinetti ; Peter Vestergaard ; Karin Frank-RaueSource :
- The Journal of clinical endocrinology and metabolism [ 1945-7197 ] ; 2017.
English descriptors
- KwdEn :
- Adolescent, Adrenal Gland Neoplasms (etiology), Adrenal Gland Neoplasms (genetics), Adult, Carcinoma, Neuroendocrine (etiology), Carcinoma, Neuroendocrine (genetics), Carcinoma, Neuroendocrine (surgery), Child, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Male, Multiple Endocrine Neoplasia Type 2b (complications), Multiple Endocrine Neoplasia Type 2b (genetics), Mutation, Penetrance, Pheochromocytoma (etiology), Pheochromocytoma (genetics), Proto-Oncogene Proteins c-ret (genetics), Retrospective Studies, Risk Assessment, Survival Rate, Thyroid Neoplasms (etiology), Thyroid Neoplasms (genetics), Thyroid Neoplasms (surgery), Thyroidectomy, Young Adult.
- MESH :
- chemical , genetics : Proto-Oncogene Proteins c-ret.
- complications : Multiple Endocrine Neoplasia Type 2b.
- etiology : Adrenal Gland Neoplasms, Carcinoma, Neuroendocrine, Pheochromocytoma, Thyroid Neoplasms.
- genetics : Adrenal Gland Neoplasms, Carcinoma, Neuroendocrine, Multiple Endocrine Neoplasia Type 2b, Pheochromocytoma, Thyroid Neoplasms.
- surgery : Carcinoma, Neuroendocrine, Thyroid Neoplasms.
- Adolescent, Adult, Child, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Male, Mutation, Penetrance, Retrospective Studies, Risk Assessment, Survival Rate, Thyroidectomy, Young Adult.
Abstract
The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists.
DOI: 10.1210/jc.2016-3640
PubMed: 28323957
Links to Exploration step
pubmed:28323957Le document en format XML
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Howlett</name><affiliation><nlm:affiliation>Department of Diabetes and Endocrinology, Leicester Royal Infirmary, University Hospitals of Leicester National Health Service Trust, Leicester LE1 5WW, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Robinson, Bruce G" sort="Robinson, Bruce G" uniqKey="Robinson B" first="Bruce G" last="Robinson">Bruce G. Robinson</name><affiliation><nlm:affiliation>Cancer Genetics Kolling Institute, Royal North Shore Hospital, University of Sydney, St. Leonards, New South Wales 2065, Australia.</nlm:affiliation></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><nlm:affiliation>Department of Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, F-75015 Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Castinetti, Frederic" sort="Castinetti, Frederic" uniqKey="Castinetti F" first="Frederic" last="Castinetti">Frederic Castinetti</name><affiliation><nlm:affiliation>Department of Endocrinology, La Timone Hospital, Hôpitaux de Marseille, Aix-Marseille University, 13385 Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vestergaard, Peter" sort="Vestergaard, Peter" uniqKey="Vestergaard P" first="Peter" last="Vestergaard">Peter Vestergaard</name><affiliation><nlm:affiliation>Department of Clinical Medicine and Endocrinology, Aalborg University Hospital, DK-9000 Aalborg, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Frank Raue, Karin" sort="Frank Raue, Karin" uniqKey="Frank Raue K" first="Karin" last="Frank-Raue">Karin Frank-Raue</name><affiliation><nlm:affiliation>Endocrine Practice, Moleculargenetic Laboratory, 69120 Heidelberg, Germany.</nlm:affiliation></affiliation></author></analytic><series><title level="j">The Journal of clinical endocrinology and metabolism</title><idno type="eISSN">1945-7197</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adrenal Gland Neoplasms (etiology)</term><term>Adrenal Gland Neoplasms (genetics)</term><term>Adult</term><term>Carcinoma, Neuroendocrine (etiology)</term><term>Carcinoma, Neuroendocrine (genetics)</term><term>Carcinoma, Neuroendocrine (surgery)</term><term>Child</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Germ-Line Mutation</term><term>Humans</term><term>Male</term><term>Multiple Endocrine Neoplasia Type 2b (complications)</term><term>Multiple Endocrine Neoplasia Type 2b (genetics)</term><term>Mutation</term><term>Penetrance</term><term>Pheochromocytoma (etiology)</term><term>Pheochromocytoma (genetics)</term><term>Proto-Oncogene Proteins c-ret (genetics)</term><term>Retrospective Studies</term><term>Risk Assessment</term><term>Survival Rate</term><term>Thyroid Neoplasms (etiology)</term><term>Thyroid Neoplasms (genetics)</term><term>Thyroid Neoplasms (surgery)</term><term>Thyroidectomy</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proto-Oncogene Proteins c-ret</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Multiple Endocrine Neoplasia Type 2b</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Adrenal Gland Neoplasms</term><term>Carcinoma, Neuroendocrine</term><term>Pheochromocytoma</term><term>Thyroid Neoplasms</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Adrenal Gland Neoplasms</term><term>Carcinoma, Neuroendocrine</term><term>Multiple Endocrine Neoplasia Type 2b</term><term>Pheochromocytoma</term><term>Thyroid Neoplasms</term></keywords><keywords scheme="MESH" qualifier="surgery" xml:lang="en"><term>Carcinoma, Neuroendocrine</term><term>Thyroid Neoplasms</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Germ-Line Mutation</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Penetrance</term><term>Retrospective Studies</term><term>Risk Assessment</term><term>Survival Rate</term><term>Thyroidectomy</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28323957</PMID><DateCreated><Year>2017</Year><Month>03</Month><Day>21</Day></DateCreated><DateCompleted><Year>2017</Year><Month>09</Month><Day>11</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>11</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1945-7197</ISSN><JournalIssue CitedMedium="Internet"><Volume>102</Volume><Issue>6</Issue><PubDate><Year>2017</Year><Month>Jun</Month><Day>01</Day></PubDate></JournalIssue><Title>The Journal of clinical endocrinology and metabolism</Title><ISOAbbreviation>J. Clin. Endocrinol. Metab.</ISOAbbreviation></Journal><ArticleTitle>Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.</ArticleTitle><Pagination><MedlinePgn>2069-2074</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1210/jc.2016-3640</ELocationID><Abstract><AbstractText Label="Context" NlmCategory="UNASSIGNED">The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists.</AbstractText><AbstractText Label="Objective" NlmCategory="UNASSIGNED">To create a risk profile for the A883F mutation for appropriate classification among the ATA risk levels.</AbstractText><AbstractText Label="Design" NlmCategory="UNASSIGNED">Retrospective analysis.</AbstractText><AbstractText Label="Setting" NlmCategory="UNASSIGNED">International collaboration.</AbstractText><AbstractText Label="Patients" NlmCategory="UNASSIGNED">Included were 13 A883F carriers.</AbstractText><AbstractText Label="Intervention" NlmCategory="UNASSIGNED">The intervention was thyroidectomy.</AbstractText><AbstractText Label="Main Outcome Measures" NlmCategory="UNASSIGNED">Earliest age of MTC, regional lymph node metastases, distant metastases, age-related penetrance of MTC and pheochromocytoma (PHEO), overall and disease-specific survival, and biochemical cure rate.</AbstractText><AbstractText Label="Results" NlmCategory="UNASSIGNED">One and three carriers were diagnosed at age 7 to 9 years (median, 7.5 years) with a normal thyroid and C-cell hyperplasia, respectively. Nine carriers were diagnosed with MTC at age 10 to 39 years (median, 19 years). The earliest age of MTC, regional lymph node metastasis, and distant metastasis was 10, 20, and 20 years, respectively. Fifty percent penetrance of MTC and PHEO was achieved by age 19 and 34 years, respectively. Five- and 10-year survival rates (both overall and disease specific) were 88% and 88%, respectively. Biochemical cure for MTC at latest follow-up was achieved in 63% (five of eight carriers) with pertinent data.</AbstractText><AbstractText Label="Conclusions" NlmCategory="UNASSIGNED">MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers. Our results support the classification of the A883F mutation in the ATA high-risk level.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mathiesen</LastName><ForeName>Jes Sloth</ForeName><Initials>JS</Initials><AffiliationInfo><Affiliation>Department of Otorhinolaryngology Head and Neck Surgery, Odense University Hospital, DK-5000 Odense, Denmark.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Clinical Research, University of Southern Denmark, DK-5000 Odense, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Habra</LastName><ForeName>Mouhammed Amir</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Division of Internal Medicine, Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, Texas 77030.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bassett</LastName><ForeName>John Howard Duncan</ForeName><Initials>JHD</Initials><AffiliationInfo><Affiliation>Division of Diabetes, Endocrinology and Metabolism, Department of Molecular Medicine, Imperial College London, London W12 0NN, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Choudhury</LastName><ForeName>Sirazum Mubin</ForeName><Initials>SM</Initials><AffiliationInfo><Affiliation>Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London W12 0NN, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Balasubramanian</LastName><ForeName>Sabapathy Prakash</ForeName><Initials>SP</Initials><AffiliationInfo><Affiliation>Department of Oncology and Metabolism and Endocrine Surgical Unit, University of Sheffield and Sheffield Teaching Hospitals National Health Service Foundation Trust, Royal Hallamshire Hospital, Sheffield S10 2JF, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Howlett</LastName><ForeName>Trevor A</ForeName><Initials>TA</Initials><AffiliationInfo><Affiliation>Department of Diabetes and Endocrinology, Leicester Royal Infirmary, University Hospitals of Leicester National Health Service Trust, Leicester LE1 5WW, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Robinson</LastName><ForeName>Bruce G</ForeName><Initials>BG</Initials><AffiliationInfo><Affiliation>Cancer Genetics Kolling Institute, Royal North Shore Hospital, University of Sydney, St. Leonards, New South Wales 2065, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gimenez-Roqueplo</LastName><ForeName>Anne-Paule</ForeName><Initials>AP</Initials><AffiliationInfo><Affiliation>Department of Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, F-75015 Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM, Unité Mixte de Recherche 970, Paris-Cardiovascular Research Center, F-75015 Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes University, Faculty of Medicine, F-75006 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Castinetti</LastName><ForeName>Frederic</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Endocrinology, La Timone Hospital, Hôpitaux de Marseille, Aix-Marseille University, 13385 Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vestergaard</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Clinical Medicine and Endocrinology, Aalborg University Hospital, DK-9000 Aalborg, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frank-Raue</LastName><ForeName>Karin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Endocrine Practice, Moleculargenetic Laboratory, 69120 Heidelberg, Germany.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Clin Endocrinol Metab</MedlineTA><NlmUniqueID>0375362</NlmUniqueID><ISSNLinking>0021-972X</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber><NameOfSubstance UI="D051096">Proto-Oncogene Proteins c-ret</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber><NameOfSubstance UI="C099282">RET protein, human</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C536914">Thyroid cancer, medullary</SupplMeshName></SupplMeshList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000310" MajorTopicYN="N">Adrenal Gland Neoplasms</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018278" MajorTopicYN="N">Carcinoma, Neuroendocrine</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000601" MajorTopicYN="N">surgery</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018095" MajorTopicYN="N">Germ-Line Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018814" MajorTopicYN="N">Multiple Endocrine Neoplasia Type 2b</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019683" MajorTopicYN="N">Penetrance</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010673" MajorTopicYN="N">Pheochromocytoma</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D051096" MajorTopicYN="N">Proto-Oncogene Proteins c-ret</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012189" MajorTopicYN="N">Retrospective Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018570" MajorTopicYN="N">Risk Assessment</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015996" MajorTopicYN="N">Survival Rate</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013964" MajorTopicYN="N">Thyroid Neoplasms</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000601" MajorTopicYN="N">surgery</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013965" MajorTopicYN="N">Thyroidectomy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>11</Month><Day>07</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>03</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>3</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>9</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>3</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28323957</ArticleId><ArticleId IdType="pii">3074044</ArticleId><ArticleId 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