Publications by authors named "Marcos Lahera"
Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.
Front Endocrinol (Lausanne)
February 2023
Introduction: The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes.
Methods: Herein we uncover several cases with dual mutations in NF1 and other PPGL genes by targeted sequencing.
Pheochromocytomas and paragangliomas (PPGLs) provide some of the clearest genetic evidence for the critical role of metabolism in the tumorigenesis process. Approximately 40% of PPGLs are caused by driver germline mutations in 16 known susceptibility genes, and approximately half of these genes encode members of the tricarboxylic acid (TCA) cycle. Taking as a starting point the involvement of the TCA cycle in PPGL development, we aimed to identify unreported mutations that occurred in genes involved in this key metabolic pathway and that could explain the phenotypes of additional individuals who lack mutations in known susceptibility genes.
View Article and Find Full Text PDFObjective: Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that were diagnosed with germline mutations but did not have a prior clinical diagnosis of neurofibromatosis type 1 (NF1).
Design: We performed genetic analysis of known tumor predisposition genes, including , using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients.