{Reference Type}: Journal Article
{Title}: Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians.
{Author}: Larcher A;Belladelli F;Fallara G;Rowe I;Capitanio U;Marandino L;Raggi D;Capitanio JF;Bailo M;Lattanzio R;Barresi C;Calloni SF;Barbera M;Andreasi V;Guazzarotti G;Pipitone G;Carrera P;Necchi A;Mortini P;Bandello F;Falini A;Partelli S;Falconi M;De Cobelli F;Salonia A;
{Journal}: Asian J Urol
{Volume}: 9
{Issue}: 4
{Year}: Oct 2022
暂无{DOI}: 10.1016/j.ajur.2022.08.002
{Abstract}: <B>UNASSIGNED: </B>The aim of the current review is to summarize the available evidence to aid clinicians in the surveillance, treatment and follow-up of the different primary tumors developed by patients diagnosed with von Hippel-Lindau (VHL) syndrome.<BR><B>UNASSIGNED: </B>A non-systematic narrative review of original articles, meta-analyses, and randomized trials was conducted, including articles in the pre-clinical setting to support relevant findings.<BR><B>UNASSIGNED: </B>VHL disease is the most common rare hereditary disorder associated with clear cell renal cell carcinoma. Affected individuals inherit a germline mutation in one VHL allele, and any somatic event that disrupt the other allele can trigger mutations, chromosomal rearrangements, or epigenetic regulations leading to oncogenesis. From a clinical perspective, patients continuously develop multiple primary tumors.<BR><B>UNASSIGNED: </B>Because VHL is considered a rare disease, very limited evidence is available for diagnosis, surveillance, active treatment with local or systemic therapy and follow-up.