A novel pathogenic variant in MAX-Associated pheochromocytoma

Comino-Méndez, 2011, Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma, Nat Genet, 43, 663, 10.1038/ng.861 Guha, 2019, A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas, Neoplasma, 66, 671, 10.4149/neo_2018_181208N933 Lenders, 2014, Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline, J. Clin. Endocrinol. Metabol., 99, 1915, 10.1210/jc.2014-1498 Burnichon, 2012, MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma, Clin Cancer Res, 18, 2828, 10.1158/1078-0432.CCR-12-0160 Bausch, 2017, Clinical characterization of the pheochromocytoma and paraganglioma susceptibility genes SDHA, TMEM127, MAX, and SDHAF2 for gene-informed prevention, JAMA Oncology, 3, 1204, 10.1001/jamaoncol.2017.0223 Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Dr M. Data from: ClinVar: improving access to variant interpretations and supporting evidence. PubMed 2018 Accessed April 2 2021. Seabrook, 2020, Multiple endocrine tumors associated with germline MAX mutations: multiple endocrine Neoplasia type 5?, J. Clin. Endocrinol. Metabol., 106, 1163, 10.1210/clinem/dgaa957 Rednam, 2017, Von hippel–lindau and hereditary pheochromocytoma/paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood, Clin Cancer Res, 23, e68, 10.1158/1078-0432.CCR-17-0547 Pozza, 2020, A novel MAX gene mutation variant in a patient with multiple and “Composite” Neuroendocrine–Neuroblastic tumors, Front Endocrinol, 11, 10.3389/fendo.2020.00234 Shibata, 2017, Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report, Surgical Case Reports, 3, 10.1186/s40792-017-0408-x Roszko, 2017, Case report of a prolactinoma in a patient with a novel MAX mutation and bilateral pheochromocytomas, J.Endocr. Soc., 1, 1401, 10.1210/js.2017-00135 Romanet, 2016 Korpershoek, 2016, Complex MAX rearrangement in a family with malignant pheochromocytoma, renal oncocytoma, and erythrocytosis, J. Clin. Endocrinol. Metabol., 101, 453, 10.1210/jc.2015-2592 Taïeb, 2018, 18F-FDOPA PET/CT imaging of MAX-related pheochromocytoma, J. Clin. Endocrinol. Metabol., 103, 1574, 10.1210/jc.2017-02324 Ferrara, 2018, Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma, Anti Cancer Drugs, 29, 102, 10.1097/CAD.0000000000000570 Daly, 2018, Pheochromocytomas and pituitary adenomas in three patients with MAX exon deletions, Endocr Relat Cancer, 25, L37, 10.1530/ERC-18-0065 Pęczkowska, 2013, Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes, Clin Endocrinol, 79, 817, 10.1111/cen.12218