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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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The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers Vrije Universiteit Brussel

Johannes A Rijken, Nicolasine D Niemeijer, Marianne A Jonker, Karin Eijkelenkamp, Jeroen C Jansen, Anouk van Berkel, Henri J L M Timmers, Henricus P M Kunst, Peter H L T Bisschop, Michiel N Kerstens, et al.

Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical genetics centers of the Netherlands, we have calculated the penetrance of SDHB associated tumors using a novel maximum ...

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 ...

Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations Vrije Universiteit Brussel

Jean-Pierre Bayley, Rogier A Oldenburg, Jennifer Nuk, Attje S Hoekstra, Conny A van der Meer, Esther Korpershoek, Barbara McGillivray, Eleonora P M Corssmit, Winand N M Dinjens, Ronald R de Krijger, et al.

BACKGROUND: The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocytomas attributable to paternally-transmitted mutations.

METHODS: Here we explore the underlying molecular basis of ...

No difference in phenotype of the main Dutch SDHD founder mutations Vrije Universiteit Brussel

Leonie T van Hulsteijn, A C den Dulk, Frederik Jan Hes, Jean-Pierre Bayley, Julie Jansen, Eleonora P M Corssmit

OBJECTIVE: SDHD mutations predispose carriers to hereditary paraganglioma syndrome. The objective of this study was to assess the genotype-phenotype correlation of a large Dutch cohort of SDHD mutation carriers and evaluate potential differences in clinical phenotypes due to specific SDHD gene mutations.

DESIGN: Retrospective, descriptive single-centre study.

PATIENTS: All consecutive SDHD mutation carriers followed at the ...

Quality of life is decreased in patients with paragangliomas Vrije Universiteit Brussel

Leonie T van Hulsteijn, A Louisse, B Havekes, Ad A Kaptein, Julie Jansen, Frederik Jan Hes, Johanna Smit, Eleonora P M Corssmit

CONTEXT: Germline mutations in succinate dehydrogenase (SDH) genes predispose carriers for developing paragangliomas, and studies on their quality of life (QoL) are scarce.

OBJECTIVES: The objectives of this study were to assess QoL in patients with paragangliomas (PGL), to evaluate long-term QoL, and to explore potential differences in QoL between SDH mutation carriers and paraganglioma patients without an SDH mutation.

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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 ...