Sökning: L773:2374 2437 >
Clinical Characteri...
-
Bausch, BirkeAlbert Ludwigs University, Germany
(författare)
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention
- Artikel/kapitelEngelska2017
Förlag, utgivningsår, omfång ...
-
AMER MEDICAL ASSOC,2017
-
printrdacarrier
Nummerbeteckningar
-
LIBRIS-ID:oai:DiVA.org:liu-141732
-
https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-141732URI
-
https://doi.org/10.1001/jamaoncol.2017.0223DOI
-
http://kipublications.ki.se/Default.aspx?queryparsed=id:136629837URI
Kompletterande språkuppgifter
-
Språk:engelska
-
Sammanfattning på:engelska
Ingår i deldatabas
Klassifikation
-
Ämneskategori:ref swepub-contenttype
-
Ämneskategori:art swepub-publicationtype
Anmärkningar
-
Funding Agencies|Deutsche Krebshilfe Grant from the German Cancer Foundation [107995]; Arthur Blank Foundation; Sondra J and Stephen R Hardis Endowed Chair of Cancer Genomic Medicine at the Cleveland Clinic; Fondazione Cassa di Risparmio di Trento e Rovereto; Janos Bolyai Research Fellowship; National Medical Research Council
-
IMPORTANCE Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. OBJECTIVE To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes. DESIGN, SETTING, AND PATIENTS This study analyzed the prospective, longitudinally followed up European-American-Asian Pheochromocytoma-Paraganglioma Registry for prevalence of SDHA, TMEM127, MAX, and SDHAF2 germline mutation carriers from 1993 to 2016. Genetic predictive testing and clinical investigation by imaging from neck to pelvis was offered to mutation-positive registrants and their relatives to clinically characterize the pheochromocytoma/paraganglioma diseases associated with mutations of the 4 new genes. MAIN OUTCOMES AND MEASURES Prevalence and spectra of germline mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes were assessed. The clinical features of SDHA, TMEM127, MAX, and SDHAF2 disease were characterized. RESULTS Of 972 unrelated registrants without mutations in the classic pheochromocytoma- and paraganglioma-associated genes (632 female [65.0%] and 340 male [35.0%]; age range, 8-80; mean [SD] age, 41.0 [13.3] years), 58 (6.0%) carried germline mutations of interest, including 29 SDHA, 20 TMEM127, 8 MAX, and 1 SDHAF2. Fifty-three of 58 patients (91%) had familial, multiple, extra-adrenal, and/or malignant tumors and/or were younger than 40 years. Newly uncovered are 7 of 63 (11%) malignant pheochromocytomas and paragangliomas in SDHA and TMEM127 disease. SDHA disease occurred as early as 8 years of age. Extra-adrenal tumors occurred in 28 mutation carriers (48%) and in 23 of 29 SDHA mutation carriers (79%), particularly with head and neck paraganglioma. MAX disease occurred almost exclusively in the adrenal glands with frequently bilateral tumors. Penetrance in the largest subset, SDHA carriers, was 39% at 40 years of age and is statistically different in index patients (45%) vs mutation-carrying relatives (13%; P amp;lt; .001). CONCLUSIONS AND RELEVANCE The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma. Genetic testing is recommended in patients at clinically high risk if the classic genes are mutation negative. Gene-specific prevention and/or early detection requires regular, systematic whole-body investigation.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
-
Schiavi, FrancescaIst Ricovero and Cura Carattere Science, Italy
(författare)
-
Ni, YingCleveland Clin, OH 44106 USA
(författare)
-
Welander, JennyLinköpings universitet,Avdelningen för mikrobiologi och molekylär medicin,Medicinska fakulteten(Swepub:liu)jenwe68
(författare)
-
Patocs, AttilaSemmelweis University, Hungary; Semmelweis University, Hungary
(författare)
-
Ngeow, JoanneNational Cancer Centre Singapore, Singapore; Nanyang Technology University, Singapore
(författare)
-
Wellner, UlrichUniversity of Lubeck, Germany
(författare)
-
Malinoc, AngelicaAlbert Ludwigs University, Germany
(författare)
-
Taschin, ElisaIst Ricovero and Cura Carattere Science, Italy
(författare)
-
Barbon, GiovanniIst Ricovero and Cura Carattere Science, Italy
(författare)
-
Lanza, VirginiaIst Ricovero and Cura Carattere Science, Italy
(författare)
-
Söderkvist, PeterLinköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik(Swepub:liu)petso43
(författare)
-
Stenman, AdamKarolinska Institutet
(författare)
-
Larsson, CatharinaKarolinska Institute, Sweden
(författare)
-
Svahn, FredrikaKarolinska Institute, Sweden
(författare)
-
Chen, Jin-LianCleveland Clin, OH 44106 USA
(författare)
-
Marquard, JessicaCleveland Clin, OH 44106 USA
(författare)
-
Fraenkel, MeravHadassah Hebrew University, Israel
(författare)
-
Walter, Martin A.University Hospital, Switzerland
(författare)
-
Peczkowska, MariolaInstitute Cardiol, Poland
(författare)
-
Prejbisz, AleksanderInstitute Cardiol, Poland
(författare)
-
Jarzab, BarbaraMaria Sklodowska Curie Mem Cancer Centre and Institute Oncol, Poland
(författare)
-
Hasse-Lazar, KorneliaMaria Sklodowska Curie Mem Cancer Centre and Institute Oncol, Poland
(författare)
-
Petersenn, StephanCentre Endocrine Tumors, Germany
(författare)
-
Moeller, Lars C.University of Duisburg Essen, Germany
(författare)
-
Meyer, AlmuthHELIOS Klin, Germany
(författare)
-
Reisch, NicoleLudwigs Maximilians University of Munich, Germany
(författare)
-
Trupka, ArnoldCity Hospital, Germany
(författare)
-
Brase, ChristophUniversity of Erlangen Nurnberg, Germany
(författare)
-
Galiano, MatthiasUniversity Hospital Erlangen, Germany
(författare)
-
Preuss, Simon F.University of Cologne, Germany
(författare)
-
Kwok, PinglingUniversity of Regensburg, Germany
(författare)
-
Lendvai, NikolettaSemmelweis University, Hungary
(författare)
-
Berisha, GaniAlbert Ludwigs University, Germany
(författare)
-
Makay, OzerEge University, Turkey
(författare)
-
Boedeker, Carsten C.HELIOS Hanseklinikum Stralsund, Germany
(författare)
-
Weryha, GeorgesUniversity of Nancy, France
(författare)
-
Racz, KarolySemmelweis University, Hungary
(författare)
-
Januszewicz, AndrzejInstitute Cardiol, Poland
(författare)
-
Walz, Martin K.Kliniken Essen Mitte, Germany; Kliniken Essen Mitte, Germany
(författare)
-
Gimm, OliverLinköpings universitet,Avdelningen för Kirurgi, Ortopedi och Onkologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US(Swepub:liu)oligi51
(författare)
-
Opocher, GiuseppeIst Ricovero and Cura Carattere Science, Italy
(författare)
-
Eng, CharisCleveland Clin, OH 44106 USA; Cleveland Clin, OH 44106 USA
(författare)
-
Neumann, Hartmut P. H.Albert Ludwigs University, Germany
(författare)
-
Albert Ludwigs University, GermanyIst Ricovero and Cura Carattere Science, Italy
(creator_code:org_t)
Sammanhörande titlar
-
Ingår i:JAMA Oncology: AMER MEDICAL ASSOC3:9, s. 1204-12122374-24372374-2445
Internetlänk
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Bausch, Birke
-
Schiavi, Frances ...
-
Ni, Ying
-
Welander, Jenny
-
Patocs, Attila
-
Ngeow, Joanne
-
visa fler...
-
Wellner, Ulrich
-
Malinoc, Angelic ...
-
Taschin, Elisa
-
Barbon, Giovanni
-
Lanza, Virginia
-
Söderkvist, Pete ...
-
Stenman, Adam
-
Larsson, Cathari ...
-
Svahn, Fredrika
-
Chen, Jin-Lian
-
Marquard, Jessic ...
-
Fraenkel, Merav
-
Walter, Martin A ...
-
Peczkowska, Mari ...
-
Prejbisz, Aleksa ...
-
Jarzab, Barbara
-
Hasse-Lazar, Kor ...
-
Petersenn, Steph ...
-
Moeller, Lars C.
-
Meyer, Almuth
-
Reisch, Nicole
-
Trupka, Arnold
-
Brase, Christoph
-
Galiano, Matthia ...
-
Preuss, Simon F.
-
Kwok, Pingling
-
Lendvai, Nikolet ...
-
Berisha, Gani
-
Makay, Ozer
-
Boedeker, Carste ...
-
Weryha, Georges
-
Racz, Karoly
-
Januszewicz, And ...
-
Walz, Martin K.
-
Gimm, Oliver
-
Opocher, Giusepp ...
-
Eng, Charis
-
Neumann, Hartmut ...
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Medicinska och f ...
-
och Medicinsk geneti ...
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Klinisk medicin
-
och Cancer och onkol ...
- Artiklar i publikationen
-
JAMA Oncology
- Av lärosätet
-
Linköpings universitet
-
Karolinska Institutet