A molecular biology–based taxonomy has been proposed for pheochromocytoma and
paraganglioma (PPGL). Data from the Cancer Genome Atlas revealed clinically relevant …

Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …

Purpose: Circulating tumor DNA (ctDNA) is increasingly recognized as liquid biopsy to
profile tumor genome. Droplet digital PCR (ddPCR) is a highly sensitive and easily operable …

The tremendous advances over the past two decades in both clinical genetics and
biochemical testing of chromaffin cell tumours have led to new considerations about how …

Neuroendocrine tumors (NETs) are a heterogeneous group of neoplasms, arising from
neuroendocrine cells that are dispersed throughout the body. Around 20% of NETs occur in …

Genetic diagnosis is recommended for all pheochromocytoma and paraganglioma (PPGL)
cases, as driver mutations are identified in approximately 80% of the cases. As the list of …

Abstract Purpose MDH2 (malate dehydrogenase 2) has recently been proposed as a novel
potential pheochromocytoma/paraganglioma (PPGL) susceptibility gene, but its role in the …

Pheochromocytoma and paraganglioma (PPGL) are rare diseases but are also amongst the
most characterized tumour types. Hence, patients with PPGL have greatly benefited from …

Pheochromocytomas (PC) and paragangliomas (PGL) are endocrine tumors for which the
genetic and clinicopathological features of metastatic progression remain incompletely …

In the near future, extended molecular testing of PPGL could be used to determine
therapeutic approaches and assess diagnosis and prognosis biomarkers. Considering the …