GLOMUS TUMOURS (NON-CHROMAFFIN PARAGANGLIOMA)
Glomus Tumours, Paraganglioma, Cancer Types, Cancer Care, Cancer Screening, Cancer Check-ups, Cancer Check-up, Cancer Assessment, Cancer Treatment, Cancer Prognosis to paraganglioma (Yao et al. 2010; Neumann et al. 2011). Even more recently, germline MAX mutations were described in ~10 % of hereditary pheochromocytoma cases characterized by very early-onset and malignant disease (Comino-Mendez et al. 2011). Paragangliomas may occur in CNC or MEN 1.
In a population-based registry of head and neck paragangliomas, accrued without regard to clinical features, demographics, or family history, over 2/3 were due to germline SDHD mutations, 1/3 SDHB mutation, and, rarely, SDHC (Neumann et al. 2004; Schiavi et al. 2005; Peczkowska et al. 2007; Peczkowska et al. 2008). Unless there are other clinical features of or family histories, head and neck paragangliomas are rarely, if ever, associated with MEN 2 or VHL (Boedeker et al. 2009). Because there are multiple genes associated with head and neck paragangliomas, a clinically relevant algorithm was modeled which takes into account demographic, clinical, and gene-specific prevalence data to help prioritize which presentations should be offered genetic testing, and if so, which gene to prioritize. Using such an algorithm, a cost reduction of >50 % was achieved (Neumann et al. 2009).