Recent progress in molecular classification of phaeochromocytoma and paraganglioma

E Boehm, AJ Gill, RC Bligh, RW Tothill - Best Practice & Research Clinical …, 2024 - Elsevier
Phaeochromocytoma (PC) and paraganglioma (PG) are neural crest cancers with high
heritability. Recent advances in molecular profiling, including multi-omics and single cell …

Metabolomics and proteomics in pheochromocytoma/paraganglioma: translating biochemistry and biology to bedside

J Petrak, SG Tevosian, S Richter, HK Ghayee - Best Practice & Research …, 2024 - Elsevier
The complexity of omes–the key cellular ensembles (genome and epigenome,
transcriptome, proteome, and metabolome)–is becoming increasingly understood in terms of …

Patient sex and origin influence distribution of driver genes and clinical presentation of paraganglioma

S Richter, N Bechmann - Journal of the Endocrine Society, 2024 - academic.oup.com
Context Sexual and ancestral differences in driver gene prevalence have been described in
many cancers but have not yet been investigated in pheochromocytoma and paraganglioma …

Clinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma

A Cascón, M Robledo - Biochimica et Biophysica Acta (BBA)-Reviews on …, 2024 - Elsevier
Over the past two decades, research into the genetic susceptibility behind
pheochromocytoma and paraganglioma (PPGL) has surged, ranking them among the most …

Changes in categorization or nomenclature within neuroendocrine tumors

GV Trucco, M Volante - Endocrine-Related Cancer, 2024 - erc.bioscientifica.com
Graphical abstract Abstract The 5th edition of the World Health Organization (WHO)
classification of neuroendocrine neoplasms (NENs) is built to achieve a uniform terminology …

Genetic changes in the FH gene cause vagal paraganglioma

AV Snezhkina, VS Pavlov, DV Kalinin… - Frontiers in …, 2024 - frontiersin.org
Vagal paraganglioma (VPGL) is a rare neuroendocrine tumor that originates from the
paraganglion associated with the vagus nerve. VPGLs present challenges in terms of …

[HTML][HTML] Non-Susceptibility Gene Variants in Head and Neck Paragangliomas

AV Snezhkina, VS Pavlov, GS Krasnov… - International …, 2024 - pmc.ncbi.nlm.nih.gov
Head and neck paragangliomas (HNPGLs) are rare neoplasms that, along with
pheochromocytomas and extra-adrenal paragangliomas, are associated with inherited …

[HTML][HTML] Case report: A rare DLST mutation in patient with metastatic pheochromocytoma: clinical implications and management challenges

C Li, L Han, Y Song, R Liu - Frontiers in Oncology, 2024 - ncbi.nlm.nih.gov
Background Pheochromocytoma is one of the most hereditary human tumors with at least 20
susceptible genes undergoing germline and somatic mutations, and other mutations less …

Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dubé (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC)

KL Nathanson - Emery and Rimoin's Principles and Practice of Medical …, 2025 - Elsevier
Cutaneous hamartoneoplastic disorders encompass a wide variety of syndromes, among
which are Tuberous Sclerosis Complex (TSC), Nevoid Basal Cell Carcinoma syndrome …

SDH deficiency is very common in carotid body paragangliomas: Genetic counseling and testing should be offered to all patients

LM Sarkis, R Clifton‐Bligh, D Veivers, AJ Gill - Head & Neck, 2023 - Wiley Online Library
Background Collectively, germline pathogenic variants in succinate dehydrogenase (SDH)
genes are the most common cause of hereditary paragangliomas. Loss of …