Implications of SDHB genetic testing in patients with sporadic pheochromocytoma

Autor: MAIGNAN, AURELIE, Guerin, Carole, Julliard, Valentin, Paladino, Nunzia-Cinzia, Kim, Edward, Roche, Philippe, Castinetti, Frederic, Essamet, Wassim, Mancini, Julien, Imperiale, Alessio, Clifton-Bligh, Roderick, Romanet, Pauline, Barlier, Anne, Pacak, Karel, Sebag, Frédéric, Taieb, David, Maignan, Aurélie

Publikováno v: Langenbecks Arch Surg
Langenbeck's Archives of Surgery
Langenbeck's Archives of Surgery, Springer Verlag, 2017, 402 (5), pp.787-798. ⟨10.1007/s00423-017-1564-y⟩
Langenbeck's Archives of Surgery, 2017, 402 (5), pp.787-798. ⟨10.1007/s00423-017-1564-y⟩

International audience; PURPOSE: Succinate dehydrogenase B (SDHB) associated pheochromocytomas (PHEOs) are associated with a higher risk of tumor aggressiveness and malignancy. The aim of the present study was to evaluate (1) the frequency of germlin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d2be27d58ec7ee776147cd1e1b1ff99
https://pubmed.ncbi.nlm.nih.gov/28229225

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Autor: Patricia L. M. Dahia, Maurizio Castellano, Nicole Reisch, Carli M. J. Tops, N. Abermil, Marta Barontini, Graeme Eisenhofer, Sandra Bernaldo de Quirós, Salud Borrego, Álvaro Gómez-Graña, Nelly Burnichon, M. Giacchè, Mercedes Robledo, Emiliano Honrado, Giuseppe Opocher, Francesca Schiavi, Xavier Girerd, Elena Rapizzi, Lucía Inglada-Pérez, Esther Korpershoek, Henri J L M Timmers, Massimo Mannelli, Encarna B. Gomez-Garcia, Elisa Taschin, María-Dolores Chiara, Sara Bobisse, Alberto Cascón, Peggy Pierre, Carlos Suárez, Alexander P.A. Stegmann, Arjen R. Mensenkamp, Felix Beuschlein, Luigi Mori, Iñaki Comino-Méndez, Marinus J. Blok, Laurence Amar, Arnaud Murat, Macarena Ruiz-Ferrer, Ronald R. de Krijger, F Schillo, Frederik J. Hes, Karel Pacak, Nicole Paes Morales, Tonino Ercolino, Jacques W.M. Lenders, Rocío Letón, Miguel Urioste, Eleonora P M Corssmit, Isabelle Guilhem, Nan Qin, Anne-Paule Gimenez-Roqueplo, Giovanna Roncador, Pierre-François Plouin, Tamara Prodanov, Yves-Jean Bignon, Victoria M. Raymond, Jérôme Bertherat, Miguel Quesada-Charneco, Anna Merlo, Aguirre A. de Cubas, Philippe Chanson

Publikováno v: Clinical Cancer Research
Clinical Cancer Research, 2012, 18 (10), pp.2828-37. ⟨10.1158/1078-0432.CCR-12-0160⟩
Clinical Cancer Research, 18(10), 2828-2837. American Association for Cancer Research Inc.
Clinical Cancer Research, American Association for Cancer Research, 2012, 18 (10), pp.2828-37. ⟨10.1158/1078-0432.CCR-12-0160⟩
Clinical Cancer Research, 18, 10, pp. 2828-37
Digital.CSIC. Repositorio Institucional del CSIC
instname
Clinical Cancer Research, 18(10), 2828-2837
Clinical Cancer Research, American Association for Cancer Research, 2012, 18 (10), pp.2828-37. 〈10.1158/1078-0432.CCR-12-0160〉
Clinical Cancer Research; Vol 18
Clinical Cancer Research, 18, 2828-37

11 pages, 2 figures, 2 tables.-- Burnichón, Nelly et al.
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a new tumor suppressor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::741d2c9a7a3e90b407fce3123fe7e415
http://hdl.handle.net/11379/148720

First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome

Autor: Blandine Delenne, Anne Barlier, Frederic Sebag, Zhengping Zhuang, Chunzhang Yang, Karel Pacak, David Taïeb

Publikováno v: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2013, 98 (5), pp.E908-13. ⟨10.1210/jc.2013-1217⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2013, 98 (5), pp.E908-13. ⟨10.1210/jc.2013-1217⟩

International audience; CONTEXT: Molecular genetic research has so far resulted in the identification of 10 well-characterized susceptibility genes for hereditary pheochromocytoma (PHEO) or paraganglioma (PGL). Recently, a new syndrome characterized

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::155cef502f9d246581fd8bdc59491bfa
https://hal.science/hal-00966232

Prognostic value of Pheochromocytoma of the Adrenal Gland Scaled Score (Pass score) tests to separate benign from malignant neoplasms

Autor: Mlika, Mona, Kourda, Nadia, Zorgati, Mohamed Majdi, Bahri, Sonia, Ben Ammar, Slim, Zermani, Rachida

Publikováno v: Tunisie Medicale
Tunisie Medicale, Maghreb-Editions; 1999, 2013, 91 (3), pp.209-215

BACKGROUND: Differentiating malignant from benign pheochromocytoma has been challenging when based on histologic features. This is due to the definition of malignant pheochromocytoma which are defined by the presence of metastases. A PASS score was d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c456f1cd1a5cbcb276d2f6b21e4593bb
https://hal-riip.archives-ouvertes.fr/pasteur-02052091

Analysis of the Role of Igf2 in Adrenal Tumour Development in Transgenic Mouse Models

Autor: Roberto Bandiera, Annabel Berthon, Isabelle Sahut-Barnola, Antoine Martinez, Pierre Val, Cyrille de Joussineau, Jérôme Bertherat, Coralie Drelon, M. Batisse-Lignier, Anne-Marie Lefrançois-Martinez, Frédérique Tissier, Bruno Ragazzon

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2012, 7 (8), pp.e44171. ⟨10.1371/journal.pone.0044171⟩
PLoS ONE, Public Library of Science, 2012, 7 (8), ⟨10.1371/journal.pone.0044171⟩
PLoS ONE, 2012, 7 (8), pp.e44171. ⟨10.1371/journal.pone.0044171⟩
PLoS ONE, Vol 7, Iss 8, p e44171 (2012)

International audience; Adrenal cortical carcinomas (ACC) are rare but aggressive tumours associated with poor prognosis. The two most frequent alterations in ACC in patients are overexpression of the growth factor IGF2 and constitutive activation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af3554607dc0c09b07f034a763f8e97
https://hal.archives-ouvertes.fr/hal-02366465