Personalized management of pheochromocytoma and paraganglioma

S Nölting, N Bechmann, D Taieb… - Endocrine …, 2022 - academic.oup.com
Pheochromocytomas/paragangliomas are characterized by a unique molecular landscape
that allows their assignment to clusters based on underlying genetic alterations. With around …

New perspectives on pheochromocytoma and paraganglioma: toward a molecular classification

J Crona, D Taïeb, K Pacak - Endocrine reviews, 2017 - academic.oup.com
A molecular biology–based taxonomy has been proposed for pheochromocytoma and
paraganglioma (PPGL). Data from the Cancer Genome Atlas revealed clinically relevant …

Paraganglioma and phaeochromocytoma: from genetics to personalized medicine

J Favier, L Amar, AP Gimenez-Roqueplo - Nature Reviews …, 2015 - nature.com
Paragangliomas and phaeochromocytomas are neuroendocrine tumours whose
pathogenesis and progression are very strongly influenced by genetics. A germline mutation …

An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma

A Buffet, N Burnichon, J Favier… - Best practice & research …, 2020 - Elsevier
Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours
characterized by a strong genetic determinism. Over the past 20 years, evolution of PPGL …

Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

NGS in PPGL (NGSnPPGL) Study Group… - Nature Reviews …, 2017 - nature.com
Phaeochromocytomas and paragangliomas (PPGLs) are neural-crest-derived tumours of
the sympathetic or parasympathetic nervous system that are often inherited and are …

The diagnosis and clinical significance of paragangliomas in unusual locations

SL Asa, S Ezzat, O Mete - Journal of clinical medicine, 2018 - mdpi.com
Paragangliomas are neuroendocrine neoplasms, derived from paraganglia of the
sympathetic and parasympathetic nervous systems. They are most commonly identified in …

Clinical characterization of the pheochromocytoma and paraganglioma susceptibility genes SDHA, TMEM127, MAX, and SDHAF2 for gene-informed prevention

B Bausch, F Schiavi, Y Ni, J Welander, A Patocs… - JAMA …, 2017 - jamanetwork.com
Importance Effective cancer prevention is based on accurate molecular diagnosis and
results of genetic family screening, genotype-informed risk assessment, and tailored …

Genotype–phenotype correlations in pheochromocytoma and paraganglioma: a systematic review and individual patient meta-analysis

J Crona, A Lamarca, S Ghosal, S Welin… - Endocrine-related …, 2019 - erc.bioscientifica.com
Pheochromocytoma and paraganglioma (PPGL) can be divided into at least four molecular
subgroups. Whether such categorizations are independent factors for prognosis or …

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

A Muth, J Crona, O Gimm, A Elmgren… - Journal of internal …, 2019 - Wiley Online Library
Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part
of hereditary syndromes. Approximately 20% of hereditary PPGL are caused by pathogenic …

Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas

L Fishbein, S Khare, B Wubbenhorst… - Nature …, 2015 - nature.com
Pheochromocytomas and paragangliomas (PCC/PGL) are the solid tumour type most
commonly associated with an inherited susceptibility syndrome. However, very little is …