New Developments and Challenges in Rare Genitourinary Tumors: Non-Urothelial Bladder Cancers and Squamous Cell Cancers of the Penis

2017 ◽  
Vol 37 ◽  
pp. 330-336 ◽  
Author(s):  
Jeanny B. Aragon-Ching ◽  
Lance C. Pagliaro
Author(s):  
Jeanny B. Aragon-Ching ◽  
Lance C. Pagliaro

The diagnosis and treatment of rare genitourinary tumors is inherently challenging. The Rare Diseases Act of 2002 initially defined a rare disorder as one that affects fewer than 200,000 Americans. The lack of widely available clinical guidelines, limited research funding, and inaccessible clinical trials often lead to difficulty with treatment decisions to guide practitioners in rendering effective care for patients with rare genitourinary cancers. This article will discuss basic tenets of diagnosis and treatment as well as recent developments and clinical trials in rare non-urothelial bladder cancers and penile squamous cell cancers.


2021 ◽  
Vol 147 (3) ◽  
pp. 492-504
Author(s):  
Thomas J. Knackstedt ◽  
Rebecca W. Knackstedt ◽  
Michelle Djohan ◽  
Raisal Djohan ◽  
Brian R. Gastman ◽  
...  

2018 ◽  
Vol 36 (6_suppl) ◽  
pp. 425-425 ◽  
Author(s):  
Jeanny B. Aragon-Ching ◽  
Donald Henson

425 Background: Non-urothelial cancers of the urinary bladder are rare, and typically < 5% incidence. They are generally considered more aggressive without clear guidelines for treatment. Methods: Incident cases of non-urothelial bladder cancers that included squamous cell carcinoma, adenocarcinoma, small cell carcinoma and sarcomas were identified in the SEER (Surveillance, Epidemiology, and End Results) Database. Demographic information, pathologic characteristics and 5-year disease-specific survival were calculated and compared using multivariate Cox regression and Kaplan-Meier curves. Results: A total of 235,537 incident cases of bladder carcinomas were identified in the years 1998 – 2008, of which 3096 cases were squamous cell carcinoma, 1175 were neuroendocrine carcinoma where small cell carcinomas made up the majority with 859 patients, 671 was comprised of adenocarcinomas, representing 0.28%, and sarcomas were 88 cases, making up 0.03% of all cases combined. The majority of patients were White (90%) although more African-Americans (15%) were seen with adenocarcinoma. The table shows the number of cases and 5-year survival according to stage. Median survival was greatest for adenocarcinoma at 179 months with a 5–year survival rate of 58%, followed by sarcomas with a median survival of 23 months, with a 5-year survival rate of 47%, followed by squamous cell carcinomas with a median survival time of 15 months and a 5-yr survival rate of 37% and the least favorable survival was for small cell carcinoma, 17 months median time, with a 5-yr survival rate of 31%. Conclusions: Non-urothelial cancers have a uniformly less favorable survival compared to urothelial cancers, highlighting the need for improved therapeutic strategies in these cohorts of patients. [Table: see text]


2019 ◽  
Vol 2019 (7) ◽  
Author(s):  
Rachel E Kaczynski ◽  
Daniel Fegely ◽  
Matthew Nier ◽  
Neysa Valentin-Capeles ◽  
Jackie Battista

Abstract We present an 84-year-old female patient with a very rare form of primary non-urothelial squamous cell carcinoma of the bladder, found incidentally during emergency exploratory laparotomy for a perforated pre-pyloric gastric ulcer. The bladder tumor was positive for CK5/6, CK903, and thrombomodulin biomarkers, as well as for high-risk HPV (16, 18, and 31). Based on a literature review of non-urothelial bladder cancers, specifically non-bilharzial squamous cell carcinoma, we believe our patient had a very rare form of primary non-urothelial squamous cell carcinoma of the bladder. The presence of these tumor markers and the lack of clinical evidence to suggest another primary origin, such as anus, rectum, cervix, or uterus, support this conclusion. This case provides an interesting example of a very rare incidental finding during an emergent procedure.


2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 423-423
Author(s):  
Daniel M. Geynisman ◽  
David Arguello ◽  
Sandeep K. Reddy ◽  
Zoran Gatalica

423 Background: Adenocarcinoma (ADA) and squamous cell carcinoma (SCC) are rare and often aggressive histologic subtypes of bladder cancer. For advanced disease, no clear standard therapies exist and NCCN guidelines suggest only fluorouracil, cisplatin, paclitaxel and ifosfamide as possible options. Thus, novel therapies based on underlying tumor biology are needed. The purpose of this study was to identify potential therapeutic options for these histologic subtypes, utilizing multiplatform tumor profiling. Methods: 49 ADA and 24 SCC specimenswere tested via a multiplatform profiling service (Caris Life Sciences, Phoenix, AZ) consisting of gene sequencing (Sanger or next generation sequencing [NGS]), gene amplification (CISH or FISH), and protein expression (immunohistochemistry [IHC]). 52% of cases were from metastatic sites. Results: Both ADA and SCC exhibited high rates of TP53 aberrations (82.4% and 72.7%, respectively). Sequencing revealed mutations in BRCA2 (14.3%), SMAD4 (12.5%), PTEN (11.8%), KRAS (8.7%), NRAS (5.6%), and KIT (5.3%) in ADA. In addition, PIK3CA (21.4%), HRAS (18.2%), BRCA1 (16.7%), BRCA2 (16.7%), and FBXW7 (9.1%) mutations were detected in SCC. Amplification in EGFR (27.3%) and ERBB2/HER2 (16.7%) were found in ACA. Meanwhile, only one ERBB2 (6.3%) amplification was found in SCC using ISH. MET was not amplified in either ACA or SCC. For both ACA and SCC, EGFR had the highest level of protein expression (100% and 85.7%, respectively). Of note, PD-1 (44.4% in both) and PD-L1 (11.1% and 22.2% in ACA and SCC, respectively) were expressed in both subtypes. Although differential rates of somatic alterations, amplification, and protein expression were found between ADA and SCC, only TLE3 was significant (19.2% versus 60.0%, respectively, p = 0.0154). Conclusions: Differential results in gene alteration, amplification, and protein expression imply the potential utility of tumor profiling in guiding therapeutic decision-making in ADA and SCC of the bladder. PIK3CA/AKT/mTOR pathway aberrations are similar to what has been reported in urothelial bladder cancer. Targeting the PD-1/PD-L1 axis may be a therapeutic option. Further studies are warranted in both diseases.


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