EDITORIAL COMMENT

Abstract

Paragangliomas and pheochromocytomas (PGL/PCC) are rare tumors that are derived from neural crest chromaffin cells either from neuroendocrine tissues distributed along the spine or from within the adrenal gland respectively. Approximately 40% of cases are associated with pathogenic germline variants in genes associated to cancer susceptibility syndromes, such as MAX, NF1, RET, SDHA, and SDHAF2, including several gene that associated with inherited kidney cancer, such as VHL, SDHB, SDHC, SDHD, and TMEM127. 1 Shuch B Ricketts CJ Metwalli AR Pacak K Linehan WM. The genetic basis of pheochromocytoma and paraganglioma: implications for management. Urology. 2014; 83: 1225-1232 Google Scholar ,2 Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014; 14: 108-119 Google Scholar A recent addition to this list is germline alteration of the FH gene, known to cause hereditary leiomyomatosis and renal cell cancer (HLRCC). 3 Richter S Gieldon L Pang Y et al. Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Genet Med. 2019; 21: 705-717 Google Scholar , 4 Clark GR Sciacovelli M Gaude E et al. Germline FH mutations presenting with pheochromocytoma. J Clin Endocrinol Metab. 2014; 99: E2046-E2050 Google Scholar , 5 Muller M Ferlicot S Guillaud-Bataille M et al. Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. Clin Genet. 2017; 92: 606-615 Google Scholar