In-depth investigation of the molecular pathogenesis of bladder cancer in a unique 26-year old patient with extensive multifocal disease: A case report

Background. The molecular characteristics and the clinical disease course of bladder cancer (BC) in young patients remain largely unresolved. All patients are monitored according to an intensive surveillance protocol and we aim to gain more insight into the molecular pathways of bladder tumors in young patients that could ultimately contribute to patient stratification, improve patient quality of life and reduce associated costs. We also determined whether a biomarker-based surveillance could be feasible. Case Presentation. We report a unique case of a 26-year-old Caucasian male with recurrent non-muscle invasive bladder tumors occurring at a high frequency and analyzed multiple tumors (maximal pTaG2) and urine samples of this patient. Analysis included FGFR3 mutation detection, FGFR3 and TP53 immunohistochemistry, mircosatellite analysis of markers on chromosomes 8, 9, 10, 11 and 17 and a genome wide single nucleotide polymorphism-array (SNP). All analyzed tumors contained a mutation in FGFR3 and were associated with FGFR3 overexpression. None of the tumors showed overexpression of TP53. We found a deletion on chromosome 9 in the primary tumor and this was confirmed by the SNP-array that showed regions of loss on chromosome 9. Detection of all recurrences was possible by urinary FGFR3 mutation analysis. Conclusions. Our findings would suggest that the BC disease course is determined by not only a patient's age, but also by the molecular characteristics of a tumor. This young patient contained typical genetic changes found in tumors of older patients and implies a clinical disease course comparable to older patients. We demonstrate that FGFR3 mutation analysis on voided urine is a simple non-invasive method and could serve as a feasible follow-up approach for this young patient presenting with an FGFR3 mutant tumor

A Case of Lagochilascariasis in Suriname with the Involvement of the ENT System and the Skull Base

We describe a case of human lagochilascariasis, with skull-base involvement and a chronic and relapsing course after treatment. This rare parasitic infection is usually manifested in the head and neck area, characterized by progressive granulomatous inflammation and the formation of abscesses. Transmission to humans most likely occurs by the consumption of undercooked meat of wild rodents. On the basis of literature studies, we propose the most likely life cycle of the parasite that involves wild feline and rodent species, with humans as accidental hosts. Even in endemic areas, it is very difficult to recognize the disease at an early stage. Progression will eventually lead to involvement of the (central) nervous system, as described in our case. Treatment is often difficult and involves resection and prolonged treatment with anthelmintic drugs. Recurrences are not uncommon and at present, long-term oral administration of ivermectin seems to be the most effective treatment