Álvaro Gómez-Graña

TL;DR: 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.

TL;DR: It is proposed that mutation screening for FH should be included in PCC/PGL genetic testing, at least for tumors with malignant behavior, and a new role for Fh in susceptibility to malignant and/or multiple PCC /PGL susceptibility genes is revealed.

TL;DR: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.

TL;DR: The finding that EPAS1 is involved in the sporadic presentation of the disease not only increases the percentage of PCCs/PGLs with known driver mutations, but also highlights the relevance of studying other hypoxia-related genes in apparently sporadic tumors.

TL;DR: A paraganglioma family carrying a germline mutation in MDH2, which encodes a Krebs cycle enzyme is described, which is revealed as a novel pheochromocytoma/paragangslioma susceptibility gene.