Citations 2
Genotype-specific neoplastic risk profiles in patients with VHL disease
Ganner, Athina , Sekula, Peggy , Schiavi, Francesca , Joo, Julia H. , Sansó, Gabriela , Almeida, Madson Q. , Knoblauch, Anna Laura, Gizaw, Christine Julia, Krzystolik, Karol , Astheimer, Sophie, Vieites, Ana , Donegan, Diane , Simsir, Ilgin Yildirim , Bandgar, Tushar , Pawlaczek, Agnieszka, Zandee, Wouter T. , Kater, Cláudio E. , Qi, Xiao-Ping , Deutschbein, Timo , Dallagnol, Tabatha Nakakogue , Yukina, Marina, Baudrand, René , Andreescu, Corina , Kunavisarut, Tada , Ishak, Nur Diana Binte , Horn, Xavier Le Guillon, Shutler, Gemma, Jovanović, Milan , Calissendorf, Jan, Circosta, Francesco , Bugalho, Maria João , Corssmit, Eleonora Pm, Goldmann, Andrea , Zovato, Stefania , Santana, Lucas Santos de , Freitas-Castro, Felipe , Rothermund, Christy A, Zimmermann, Josa, Aycut, Ayca, Vroonen, Laurent , Krauß, Tobias , Taschner, Christian , Ruf, Juri , Gläsker, Sven , Bucher, Felicitas , Agostini, Hansjürgen , Jilg, Cordula A. , Schultze‐Seemann, Wolfgang, Bausch, Birke, Bergfeld, Antonia, Rhein, Kilian , Fang, Xu-Dong , Kotsis, Fruzsina , Schäfer, Tobias, Links, Thera P. , Makay, Özer , Fagundes, Gustavo Freitas Cardoso, Shah, Nalini , Barontini, Marta, Larsson, Catharina , Januszewicz, Andrzej , Lima, José Viana , Cybulski, Cezary, Walz, Martin K. , Koettgen, Anna, Neumann, Hartmut P.H., Neumann‐Haefelin, Elke , Köttgen, Anna , Yukina, M. Yu. , Sekula, Peggy , Almeida, Madson Q , Juhlin, Carl Christofer , Ngeow, Joanne , Eng, Charis , Baudrand, Rene , Ferrara, Alfonso Massimiliano , Steiert, Christine , Achatz, Maria Isabel , Hundsberger, Thomas , Lubiński, Jan , Hasse-Lazar, Kornelia , Yu, Kai , Rostomyan, Liliya , Remde, Hanna , Horn, Xavier Le Guillou , Jovanovic, Milan, Pęczkowska, Mariola , Calissendorff, Jan , Gimm, Oliver , Quinkler, Marcus , Watutantrige‐Fernando, Sara , Rothermundt, Christian Alexander , Zimmermann, Josa, Durmaz, Asude , Klingler, Jan‐Helge , Lang, Stefan Johann , Bergfeld, Antonia, Uslar, Thomas , Concistrè, Antonio , Juhlin, C. Christofer , Rocha, José Cláudio Casali da , Petramala, Luigi , Tsoy, U. A. , Grineva, Elena , Fagundes, Gustavo F C , Ngeow, Joanne , Opocher, Giuseppe , Wohllk, Nelson , Letizia, Claudio , Donatini, Gianluca , Maher, Eamonn R. , Beltsevich, D. G. , Bancos, Irina , Eng, Charis
Endocrine-Related Cancer | April 9, 2025 | Volume: 32 | Issue: 5 | Pages: No page available
Abstract Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel–Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles of individual mutations. To describe neoplastic risk profiles for carriers of pathogenic and likely pathogenic VHL germline mutations, our observational study recruited 1,350 participants from 40 centers worldwide. 432 different VHL germline mutations were observed, with p.Asn78Ser, p.Arg161Ter, p.Arg161Gln, p.Arg167Gln, p.Arg167Trp and p.Tyr98His being the six most frequent, occurring in a total of 493 carriers (36.5%) and in ≥30 patients each. Age-related penetrance risks for retinal hemangioblastoma, central nervous system hemangioblastoma, renal cell carcinoma, pancreatic neuroendocrine tumors and pheochromocytoma/paraganglioma in carriers of the most frequent VHL mutations were assessed. In addition, the number of organs affected, the frequency of surgery and the outcome are reported. Pairwise comparisons of the age-dependent tumor penetrance of these six mutations showed that 47 out of 90 pairs were significantly different. The most significant associations were found in p.Tyr98His (n = 19), followed by p.Arg161Ter (n = 10). All pairwise comparisons of mutations affecting different codons showed at least one significant (P < 0.05) difference, except for p.Asn78Ser vs p.Arg161Ter. Thus, tumor risk varied by VHL mutation type and location, but did not differ between the truncating mutation p.Arg161Ter and the missense mutation p.Asn78Ser. Our study demonstrates the importance of mutation-specific phenotype prediction. With appropriate validation, the data have important implications for risk assessment and decision making in tumor prevention for carriers of the respective VHL mutations.
Suppurative Thrombosis of the Portal Vein (Pylephlebits): A Systematic Review of Literature
Jevtic, Dorde , Gavrancic, Tatjana , Pantić, Ivana , Nordin, Terri , Nordstrom, Charles W. , Antic, Marina , Pantić, Nikola , Kaljevic, Marija , Joksimović, Bojan , Jovanović, Milan , Petcu, Emilia, Jecmenica, Mladen , Milovanovic, Tamara, Sprecher, Lawrence J., Dumic, Igor , Alempijević, Tamara , Sprecher, Lawrence, Alempijevic, Tamara , Dumic, Igor , Jevtic, Djordje , Joksimović, Bojan
Journal of Clinical Medicine | August 26, 2022 | Volume: 11 | Issue: 17 | Pages: 4992
Suppurative portal vein thrombosis (pylephlebitis) is an uncommon condition usually associated with an intra-abdominal infection or inflammatory process. In this study, we aimed to synthesize data on previously published cases according to the PRISMA guidelines. A total of 103 patients were included. Patients were more commonly male (71.8%) and had a mean age of 49 years. The most common infection associated with pylephlebitis was diverticulitis (n = 29, 28.2%), and Escherichia coli was the most isolated pathogen (n = 21, 20.4%). Blood cultures were positive in 64 cases (62.1%). The most common site of thrombosis was the main portal vein (PV) in 59 patients (57.3%), followed by the superior mesenteric vein (SMV) in 40 patients (38.8%) and the right branch of the PV in 30 patients (29.1%). Sepsis developed in 60 patients (58.3%). The mortality rate in our review was 8.7%, and independent risk factors for mortality were the presence of pertinent comorbidities (OR 5.5, p = 0.02), positive blood cultures (OR 2.2, p = 0.02), and sepsis (OR 17.2, p = 0.049).