Literature DB >> 30213301

[Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].

Marie Vermalle1, Antoine Tabarin2, Frederic Castinetti3.   

Abstract

The management of pheochromocytoma and paraganglioma has deeply evolved over the last years due to the discovery of novel genes of susceptibility, especially SDHx, MAX and TMEM127. While the modalities of diagnosis and management of patients presenting with hereditary pheochromocytoma and paraganglioma are now well defined, screening and follow-up strategies for asymptomatic mutation carriers remain a matter of debate. This raises major questions as these asymptomatic patients will require a lifelong follow-up. The aim of this review is an attempt to give insights on the optimal screening and follow-up strategies of asymptomatic carriers of SDHx, MAX and TMEM127 mutations, with additional thoughts on the forensic and psychological aspects of the management of such patients with rare diseases.
© 2018 Elsevier Masson SAS. Tous droits réservés.

Entities:  

Keywords:  Asymptomatic mutation carriers; MAX; Porteurs asymptomatiques; SDHx; TMEM127

Mesh:

Substances:

Year:  2018        PMID: 30213301     DOI: 10.1016/S0003-4266(18)31234-4

Source DB:  PubMed          Journal:  Ann Endocrinol (Paris)        ISSN: 0003-4266            Impact factor:   2.478


  2 in total

Review 1.  Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations.

Authors:  Benjamin Chevalier; Hippolyte Dupuis; Arnaud Jannin; Madleen Lemaitre; Christine Do Cao; Catherine Cardot-Bauters; Stéphanie Espiard; Marie Christine Vantyghem
Journal:  Front Endocrinol (Lausanne)       Date:  2021-05-06       Impact factor: 5.555

2.  Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant.

Authors:  Diana Borges Duarte; Lia Ferreira; Ana P Santos; Cláudia Costa; Jorge Lima; Catarina Santos; Mariana Afonso; Manuel R Teixeira; Rui Carvalho; Maria Helena Cardoso
Journal:  Front Endocrinol (Lausanne)       Date:  2021-03-17       Impact factor: 5.555

  2 in total

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