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21,860 results
  • Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report. [Case Reports]
    Hered Cancer Clin Pract 2019; 17:23Carrera S, Beristain E, … López Vivanco G
  • CONCLUSIONS: To the best of our knowledge, this is the first published report in which the c.1A > C; p.(Met1?) pathogenic variant in the SDHA is associated with a GIST. SDHA pathogenic variants increase the risk of paraganglioma, pheochromocytoma, GIST, pituitary adenoma and renal cancer in an autosomal dominant inherited condition named paraganglioma syndrome type 5. The absence of family history of tumors in SDHA pathogenic variants carriers could be related to its low penetrance. All patients diagnosed with WT GISTs should be referred to a hereditary cancer genetic counseling unit regardless of the age at presentation or the absence of a suspicious family history.
  • Surgical approaches and results of treatment for hereditary paragangliomas. [Review]
    Best Pract Res Clin Endocrinol Metab 2019; :101298Iacobone M, Belluzzi A, Torresan F
  • Paragangliomas (PGL) are rare neuroendocrine tumours; parasympathetic PGL are predominantly non-secreting and located at the skull base and neck, while sympathetic PGL are typically catecholamine-secreting and located at abdomino-pelvic level. Approximately 40% of PGL may be caused by germline mutations; hereditary variants should be suspected especially in case of positive family history, early …
  • Pheochromocytoma- and paraganglioma-triggered Takotsubo syndrome. [Review]
    Endocrine 2019Y-Hassan S, Falhammar H
  • Takotsubo syndrome (TS), also known as neurogenic stunned myocardium or broken heart syndrome, is a recognized acute cardiac syndrome. In about 70% of cases, the syndrome is preceded by an emotional or a physical stressor. Among the innumerable physical trigger factors that may induce TS are pheochromocytomas and paragangliomas (PPGLs). PPGL-associated cardiovascular complications as "myocarditis…
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