Journal ArticleDOI
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Iñaki Comino-Méndez,Francisco Javier Gracia-Aznarez,Francesca Schiavi,Iñigo Landa,Luis J Leandro-García,Rocío Letón,Emiliano Honrado,Rocío Ramos-Medina,Daniela Caronia,Guillermo Pita,Álvaro Gómez-Graña,Aguirre A. de Cubas,Lucía Inglada-Pérez,Agnieszka Maliszewska,Elisa Taschin,Sara Bobisse,Giuseppe Pica,Paola Loli,Rafael Hernández-Lavado,José Ángel Díaz,Mercedes Gómez-Morales,Anna González-Neira,Giovanna Roncador,Cristina Rodríguez-Antona,Javier Benitez,Massimo Mannelli,Giuseppe Opocher,Mercedes Robledo,Alberto Cascón +28 more
TLDR
The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is supported and the lack of functional MAX in rat PCC (PC12) cells is supported, which suggests that loss of MAX function is correlated with metastatic potential.Abstract:
Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine susceptibility genes described to date, but there are familial cases without mutations in these known genes. We sequenced the exomes of three unrelated individuals with hereditary PCC (cases) and identified mutations in MAX, the MYC associated factor X gene. Absence of MAX protein in the tumors and loss of heterozygosity caused by uniparental disomy supported the involvement of MAX alterations in the disease. A follow-up study of a selected series of 59 cases with PCC identified five additional MAX mutations and suggested an association with malignant outcome and preferential paternal transmission of MAX mutations. The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is further supported by the lack of functional MAX in rat PCC (PC12) cells and by the amplification of MYCN in neuroblastoma and suggests that loss of MAX function is correlated with metastatic potential.read more
Citations
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Journal ArticleDOI
Pheochromocytoma and paraganglioma: An endocrine society clinical practice guideline
Jacques W.M. Lenders,Quan-Yang Duh,Graeme Eisenhofer,Anne Paule Gimenez-Roqueplo,Stefan K.G. Grebe,Mohammad Hassan Murad,Mitsuhide Naruse,Karel Pacak,William F. Young +8 more
TL;DR: This evidence-based guideline recommends minimally invasive adrenalectomy for most pheochromocytomas with open resection for most paragangliomas and suggests personalized management with evaluation and treatment by multidisciplinary teams with appropriate expertise to ensure favorable outcomes.
Journal ArticleDOI
Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy
Jens G. Lohr,Petar Stojanov,Scott L. Carter,Peter Cruz-Gordillo,Michael S. Lawrence,Daniel Auclair,Carrie Sougnez,Birgit Knoechel,Joshua Gould,Gordon Saksena,Kristian Cibulskis,Aaron McKenna,Michael A Chapman,Ravid Straussman,Joan Levy,Louise M. Perkins,Jonathan J Keats,Steven E. Schumacher,Mara Rosenberg,Gad Getz,Todd R. Golub +20 more
TL;DR: This article performed massively parallel sequencing of paired tumor/normal samples from 203 multiple myeloma (MM) patients and identified significantly mutated genes and copy number alterations and discovered putative tumor suppressor genes by determining homozygous deletions and loss of heterozygosity.
Journal ArticleDOI
Realizing the promise of cancer predisposition genes.
TL;DR: There is also considerable potential for incorrect inferences and inappropriate clinical applications, and realizing the promise of cancer predisposition genes for science and medicine will thus require careful navigation.
Journal ArticleDOI
Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity.
TL;DR: Hereditary pheochromocytomas and paragangliomas are powerful models for recognizing cancer driver events, which can be harnessed for diagnostic purposes and for guiding the future development of targeted therapies.
Journal ArticleDOI
Human genome sequencing in health and disease.
TL;DR: This review summarizes the initial steps undertaken in clinical implementation of personal genome information, and describes the application of whole-genome and exome sequencing to identify the cause of genetic diseases and to suggest adjuvant therapies.
References
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Journal ArticleDOI
Germ-line mutations in nonsyndromic pheochromocytoma.
Hartmut P. H. Neumann,Birke Bausch,Sarah R. McWhinney,Bernhard U. Bender,Oliver Gimm,Gerlind Franke,Joerg Schipper,Joachim Klisch,Carsten Altehoefer,Klaus Zerres,Andrzej Januszewicz,Wendy M. Smith,Robin Munk,Tanja Manz,Sven Glaesker,Thomas W. Apel,Markus Treier,Martin Reineke,Martin K. Walz,Cuong Hoang-Vu,Michael Brauckhoff,Andreas Klein-Franke,Peter Klose,Heinrich Schmidt,Margarete Maier-Woelfle,Mariola Pęczkowska,Cesary Szmigielski,Charis Eng +27 more
TL;DR: Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheosene-associated syndromes that would otherwise be missed.
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Germ-line mutations in nonsyndromic pheochromocytoma.
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