Terms: = Germ cell tumor AND SDHAF2, ENSG00000167985, C11orf79, FLJ20487, 54949 AND Diagnosis
27 results:
1. Back to Biochemistry: Evaluation for and Prognostic Significance of SDH Mutations in Paragangliomas and Pheochromocytomas.
Gupta S; Erickson LA
Surg Pathol Clin; 2023 Mar; 16(1):119-129. PubMed ID: 36739159
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2. Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases.
Araujo PB; Carvallo MS; Vidal AP; Nascimento JB; Wo JM; Naliato EO; Cunha Neto SH; Conceição FL; Fontes R; de Lima VV; Carvalho DP; Soares P; Lima J; Lourenço DM; Violante AHD
Front Endocrinol (Lausanne); 2022; 13():903085. PubMed ID: 36187102
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3. Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Loughrey PB; Roncaroli F; Healy E; Weir P; Basetti M; Casey RT; Hunter SJ; Korbonits M
Endocr Relat Cancer; 2022 Oct; 29(10):R157-R172. PubMed ID: 35938916
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4. The emerging clinical relevance of genomic profiling in neuroendocrine tumours.
Burak GI; Ozge S; Cem M; Gulgun B; Zeynep DY; Atil B
BMC Cancer; 2021 Mar; 21(1):234. PubMed ID: 33676450
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5. A Novel MAX Gene Mutation Variant in a Patient With Multiple and "Composite" Neuroendocrine-Neuroblastic tumors.
Pozza C; Sesti F; Di Dato C; Sbardella E; Pofi R; Schiavi F; Bonifacio V; Isidori AM; Faggiano A; Lenzi A; Giannetta E
Front Endocrinol (Lausanne); 2020; 11():234. PubMed ID: 32508744
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6. Pheochromocytoma, paragangliomas, and pituitary adenoma: An unusual association in a patient with an SDHD mutation. Case report.
Lemelin A; Lapoirie M; Abeillon J; Lasolle H; Giraud S; Philouze P; Ceruse P; Raverot G; Vighetto A; Borson-Chazot F
Medicine (Baltimore); 2019 Jul; 98(30):e16594. PubMed ID: 31348302
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7. Composite Pheochromocytoma/Paraganglioma-Ganglioneuroma: A Clinicopathologic Study of Eight Cases with Analysis of Succinate Dehydrogenase.
Gupta S; Zhang J; Erickson LA
Endocr Pathol; 2017 Sep; 28(3):269-275. PubMed ID: 28752484
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8. Routine genetic screening with a multi-gene panel in patients with pheochromocytomas.
Sbardella E; Cranston T; Isidori AM; Shine B; Pal A; Jafar-Mohammadi B; Sadler G; Mihai R; Grossman AB
Endocrine; 2018 Jan; 59(1):175-182. PubMed ID: 28477304
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9. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and sdhaf2 for Gene-Informed Prevention.
Bausch B; Schiavi F; Ni Y; Welander J; Patocs A; Ngeow J; Wellner U; Malinoc A; Taschin E; Barbon G; Lanza V; Söderkvist P; Stenman A; Larsson C; Svahn F; Chen JL; Marquard J; Fraenkel M; Walter MA; Peczkowska M; Prejbisz A; Jarzab B; Hasse-Lazar K; Petersenn S; Moeller LC; Meyer A; Reisch N; Trupka A; Brase C; Galiano M; Preuss SF; Kwok P; Lendvai N; Berisha G; Makay Ö; Boedeker CC; Weryha G; Racz K; Januszewicz A; Walz MK; Gimm O; Opocher G; Eng C; Neumann HPH;
JAMA Oncol; 2017 Sep; 3(9):1204-1212. PubMed ID: 28384794
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10. 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.
Benn DE; Robinson BG; Clifton-Bligh RJ
Endocr Relat Cancer; 2015 Aug; 22(4):T91-103. PubMed ID: 26273102
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11. germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.
Zhu WD; Wang ZY; Chai YC; Wang XW; Chen DY; Wu H
Eur J Med Genet; 2015 Sep; 58(9):433-8. PubMed ID: 26096992
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12. Coexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis.
Bugalho MJ; Silva AL; Domingues R
Fam Cancer; 2015 Dec; 14(4):603-7. PubMed ID: 26071763
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13. A registry-based study of thyroid paraganglioma: histological and genetic characteristics.
von Dobschuetz E; Leijon H; Schalin-Jäntti C; Schiavi F; Brauckhoff M; Peczkowska M; Spiazzi G; Demattè S; Cecchini ME; Sartorato P; Krajewska J; Hasse-Lazar K; Roszkowska-Purska K; Taschin E; Malinoc A; Akslen LA; Arola J; Lange D; Fassina A; Pennelli G; Barbareschi M; Luettges J; Prejbisz A; Januszewicz A; Strate T; Bausch B; Castinetti F; Jarzab B; Opocher G; Eng C; Neumann HP
Endocr Relat Cancer; 2015 Apr; 22(2):191-204. PubMed ID: 25595276
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14. Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.
Favier J; Amar L; Gimenez-Roqueplo AP
Nat Rev Endocrinol; 2015 Feb; 11(2):101-11. PubMed ID: 25385035
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15. Long-term prognosis of patients with pediatric pheochromocytoma.
Bausch B; Wellner U; Bausch D; Schiavi F; Barontini M; Sanso G; Walz MK; Peczkowska M; Weryha G; Dall'igna P; Cecchetto G; Bisogno G; Moeller LC; Bockenhauer D; Patocs A; Rácz K; Zabolotnyi D; Yaremchuk S; Dzivite-Krisane I; Castinetti F; Taieb D; Malinoc A; von Dobschuetz E; Roessler J; Schmid KW; Opocher G; Eng C; Neumann HP
Endocr Relat Cancer; 2014 Feb; 21(1):17-25. PubMed ID: 24169644
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16. Paragangliomas: update on differential diagnostic considerations, composite tumors, and recent genetic developments.
Papathomas TG; de Krijger RR; Tischler AS
Semin Diagn Pathol; 2013 Aug; 30(3):207-23. PubMed ID: 24144290
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17. Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
McInerney-Leo AM; Marshall MS; Gardiner B; Benn DE; McFarlane J; Robinson BG; Brown MA; Leo PJ; Clifton-Bligh RJ; Duncan EL
Clin Endocrinol (Oxf); 2014 Jan; 80(1):25-33. PubMed ID: 24102379
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18. Sinonasal paraganglioma with long-delayed recurrence and metastases: genetic and imaging findings.
Michel J; Taïeb D; Jolibert M; Torrents J; Wassef M; Morange I; Essamet W; Barlier A; Dessi P; Fakhry N
J Clin Endocrinol Metab; 2013 Nov; 98(11):4262-6. PubMed ID: 24030938
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19. A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Rattenberry E; Vialard L; Yeung A; Bair H; McKay K; Jafri M; Canham N; Cole TR; Denes J; Hodgson SV; Irving R; Izatt L; Korbonits M; Kumar AV; Lalloo F; Morrison PJ; Woodward ER; Macdonald F; Wallis Y; Maher ER
J Clin Endocrinol Metab; 2013 Jul; 98(7):E1248-56. PubMed ID: 23666964
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20. Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.
Pęczkowska M; Kowalska A; Sygut J; Waligórski D; Malinoc A; Janaszek-Sitkowska H; Prejbisz A; Januszewicz A; Neumann HP
Clin Endocrinol (Oxf); 2013 Dec; 79(6):817-23. PubMed ID: 23551045
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