TY - JOUR AU - Feletti, Alberto AU - Bianchini, Elena AU - De Gaetano, Anna AU - Gibellini, Lara AU - De Biasi, Sara AU - Pavesi, Giacomo AU - Mattioli, Anna Vittoria AU - Nasi, Milena AU - Cossarizza, Andrea AU - Pinti, Marcello PY - 2019 DA - 2019/03/04 TI - Sporadic and Hereditary Hemangioblastoma: The Role of Endothelial Cells JO - OBM Neurobiology SP - 021 VL - 03 IS - 01 AB - Hemangioblastomas (HBs) are benign, highly vascularized tumors of the central nervous system. About 75% of HBs are sporadic, while 25% are associated with von Hippel-Lindau (VHL) disease. HBs consist of two main components, a rich capillary network composed of vascular endothelia and pericytes, within large vacuolated stromal cells, which harbor the genetic defect. The mechanisms through which VHL gene product (pVHL) causes HB is not completely clear. Wild type pVHL is involved in the response to hypoxia, as it targets HIF-α for ubiquitination and degradation in the presence of oxygen, but not in hypoxic conditions. It is therefore postulated that mutated pVHL stabilizes HIF-α even in normoxic conditions, resulting in up-regulation of cellular proliferative and angiogenic genes ultimately promoting tumorigenesis. Accordingly, besides VHL mutations, a variety of genes and micro RNA promoting angiogenesis and cell proliferation have been implicated in the pathogenesis of HB. So far, no biomarkers exist to predict HB onset or recurrence, or associated with its progression. We recently proposed the quantification of circulating endothelial cells (CECs) and their progenitors, circulating endothelial progenitors (CEPs), as potential biomarkers useful for monitoring the presence of HB, and the recurrence after surgical resection of the tumor. In this review, we discuss the possible role of these cells in the onset of HB and the technical challenges for their accurate identification and quantification. SN - 2573-4407 UR - https://doi.org/10.21926/obm.neurobiol.1901021 DO - 10.21926/obm.neurobiol.1901021 ID - Feletti2019 ER -