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The phenotype of SDHB germline mutation carriers Vrije Universiteit Brussel

Nicolasine D Niemeijer, Johannes A Rijken, Karin Eijkelenkamp, Anouk N A van der Horst-Schrivers, Michiel N Kerstens, Carli M J Tops, Anouk van Berkel, Henri J L M Timmers, Henricus P M Kunst, C René Leemans, et al.

OBJECTIVE: Succinate dehydrogenase B subunit (SDHB) gene germline mutations predispose to pheochromocytomas, sympathetic paragangliomas, head and neck paragangliomas and non-paraganglionic tumors (e.g. renal cell carcinoma, gastrointestinal stromal tumor and pituitary neoplasia). The aim of this study was to determine phenotypical characteristics of a large Dutch cohort of SDHB germline mutation carriers and assess differences in clinical ...

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma Vrije Universiteit Brussel

Nelly Burnichon, Alberto Cascón, Francesca Schiavi, Nicole Paes Morales, Iñaki Comino-Méndez, Nasséra Abermil, Lucía Inglada-Pérez, Aguirre A de Cubas, Laurence Amar, Marta Barontini, 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 susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline ...

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma Vrije Universiteit Brussel

Karin van der Tuin, Arjen R Mensenkamp, Carli M J Tops, Eleonora P M Corssmit, Winand N Dinjens, Anouk N A van der Horst-Schrivers, Jeroen C Jansen, Mirjam M de Jong, Henricus P M Kunst, Benno Kusters, et al.

Context: Paraganglioma (PGL) has the highest degree of heritability among human neoplasms. Current clinical understanding of germline SDHA mutation carriers is limited.

Objective: To estimate the contribution of SDHA mutations in PGL and to assess clinical manifestations and age-related penetrance.

Design: Nationwide retrospective cohort study.

Setting: Tertiary referral centers in the Netherlands (multicenter).

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Ureteral Metastasis Vrije Universiteit Brussel

Denis Schallier, Bernard Rappe, Marilyn Carprieaux, Frederik Vandenbroucke

Ureteral metastasis from a primary prostate cancer is a rare event in the initial diagnosis and progression of prostate cancer. We report here the case of a 72- year-old patient who was treated for castration-resistant metastatic prostate cancer involving bone, intra-abdominal lymph nodes, bilateral adrenal glands, and a small distal ureteral lesion with left hydronephrosis considered in remission, with a luteinizing hormone-releasing hormone ...