Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD

We report the case of a patient with multiple head and neck paragangliomas and two pathogenic germline variants in susceptibility genes for this disease. Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors with the highest degree of heritability of any other cancer type [1]. Pathogenic variants in about 20 genes are known to cause approximately 40% of cases [2]. Depending on the gene involved, important clinical characteristics such as malignancy and recurrence risks vary, while the different underlying tumorigenic mechanisms offer opportunities for personalized therapeutic approaches [3].

Source: Cancer Genetics and Cytogenetics - May 24, 2021 Category: Genetics & Stem Cells Authors: Prodromos Chatzikyriakou, Dr. Philip Touska, Mufaddal T. Moonim, Mr. Rupert Obholzer, Dr. Shazia Afridi, Dr. Ann Sandison, Rebecca J. Oakey, Dr. Louise Izatt Source Type: research