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. Approximately 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 mechanism by which the VHL gene product (pVHL) causes HB is not completely clear. Wild-type pVHL is involved in the response to hypoxia, targeting HIF-α for ubiquitination and degradation in the presence of oxygen, but not under hypoxic conditions. Thus, it is postulated that mutated pVHL stabilizes HIF-1α even under normoxic conditions, resulting in upregulation of cellular proliferative and angiogenic genes that promote tumorigenesis. In addition to VHL mutations, a variety of genes and microRNAs that promote angiogenesis and cell proliferation have been implicated in the pathogenesis of HB. To date, no biomarkers for the prediction of HB onset, recurrence, or progression have been identified. We recently proposed the quantification of circulating endothelial cells (CECs) and their progenitors, circulating endothelial progenitors (CEPs), as potential biomarkers for monitoring the presence of HB and its 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  -