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Bladder urothelial carcinoma extending to rectal mucosa and presenting with rectal bleeding.

ABSTRACT: An 87-year-old-man with prostate-cancer-stage-T1c-Gleason-6 treated with radiotherapy in 1996, recurrent prostate cancer treated with leuprolide hormonal therapy in 2009, and bladder-urothelial-carcinoma in situ treated with Bacillus-Calmette-Guerin and adriamycin in 2010, presented in 2015 with painless, bright red blood per rectum coating stools daily for 5 mo. Rectal examination revealed bright red blood per rectum; and a hard, fixed, 2.5 cm × 2.5 cm mass at the normal prostate location. The hemoglobin was 7.6 g/dL (iron saturation = 8.4%, indicating iron-deficiency-anemia). Abdominopelvic-CT-angiography revealed focal wall thickening at the bladder neck; a mass containing an air cavity replacing the normal prostate; and adjacent rectal invasion. Colonoscopy demonstrated an ulcerated, oozing, multinodular, friable, 2.5 cm × 2.5 cm mass in anterior rectal wall, at the usual prostate location. Histologic and immunohistochemical analysis of colonoscopic biopsies of the mass revealed poorly-differentiated-carcinoma of urothelial origin. At visceral angiography, the right-superior-rectal-artery was embolized to achieve hemostasis. The patient subsequently developed multiple new metastases and expired 13 mo post-embolization. Comprehensive literature review revealed 16 previously reported cases of rectal involvement from bladder urothelial carcinoma, including 11 cases from direct extension and 5 cases from metastases. Patient age averaged 63.7 ± 9.6 years (all patients male). Rectal involvement was diagnosed on average 13.5 ± 11.8 mo after initial diagnosis of bladder urothelial carcinoma. Symptoms included constipation/gastrointestinal obstruction-6, weight loss-5, diarrhea-3, anorexia-3, pencil thin stools-3, tenesmus-2, anorectal pain-2, and other-5. Rectal examination in 9 patients revealed annular rectal constriction-6, and rectal mass-3. The current patient had the novel presentation of daily bright red blood per rectum coating the stools simulating hemorrhoidal bleeding; the novel mechanism of direct bladder urothelial carcinoma extension into rectal mucosa via the prostate; and the novel aforementioned colonoscopic findings underlying the clinical presentation.

SUBMITTER: Aneese AM

PROVIDER: S-EPMC5483421 | biostudies-other | 2017 Jun

REPOSITORIES: biostudies-other

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Project description:BACKGROUND:Rectal bleeding is a common, frequently benign problem that can also be an early sign of colorectal cancer. Diagnostic evaluation for rectal bleeding is complex, and clinical practice may deviate from available guidelines. OBJECTIVE:To assess the degree to which primary care physicians document risk factors for colorectal cancer among patients with rectal bleeding and order colonoscopies when indicated, and the likelihood of physicians ordering and patients receiving recommended colonoscopies based on demographic characteristics, visit patterns, and clinical presentations. DESIGN:Cross-sectional study using explicit chart abstraction methods. PARTICIPANTS:Three hundred adults, 40-80 years of age, presenting with rectal bleeding to 15 academically affiliated primary care practices between 2012 and 2016. MAIN MEASURES:1) The frequency at which colorectal cancer risk factors were documented in patients' charts, 2) the frequency at which physicians ordered colonoscopies and patients received them, and 3) the odds of ordering and patients receiving recommended colonoscopies based on patient demographic characteristics, visit patterns, and clinical presentations. KEY RESULTS:Risk factors for colorectal cancer were documented between 9% and 66% of the time. Most patients (89%) with rectal bleeding needed a colonoscopy according to a clinical guideline. Physicians placed colonoscopy orders for 74% of these patients, and 56% completed the colonoscopy within a year (36% within 60 days). The odds of physicians ordering recommended colonoscopies were significantly higher in patients aged 50-64 years of age than in those aged 40-50 years (OR?=?2.23, 95% CI: 1.04, 4.80), and for patients whose most recent colonoscopy was 5 or more years ago (OR?=?4.04, 95% CI: 1.50, 10.83). The odds of physicians ordering and patients receiving recommended colonoscopies were significantly lower for each primary care visit unrelated to rectal bleeding (OR?=?0.85, 95% CI: 0.75, 0.96). CONCLUSIONS:Diagnostic evaluation of patients presenting to primary care with rectal bleeding may be suboptimal because of inadequate risk factor assessment and prioritization of patients' other concurrent medical problems.

Project description:BackgroundDifferent genomic characterization in urothelial carcinoma (UC) by site of origin may imply contrasting therapeutic opportunities and pathogenetic mechanisms. The aim of this study was to investigate whether differences between upper tract UC (UTUC) and UC of the bladder (UCB) result from intrinsic biological diversity.Materials and methodsWe prospectively sequenced 118 tumors and matched blood DNA from Chinese patients with UC using next-generation sequencing techniques, including 45 UTUC and 73 UCB. Two hundred twenty-six patients with UTUC and 350 patients with UCB for The Cancer Genome Atlas were acquired from the cbioportal.ResultsThere were marked disparities in the mutational landscape for UC according to race and site of origin. Signature 22 for exposure to aristolochic acid was only observed in the UTUC cohort. Conversely, signature 6 for defective DNA mismatch repair only existed in the UCB cohort. Compared with UCB, UTUC had higher clonal and subclonal mutation numbers. TP53, PIK3CA, and FGFR3 mutations may be the driver genes for UTUC, whereas for UCB, the driver gene may be BRCA1. Patients with UTUC had lower PD-L1 than those with UCB. There was no significant difference in the number of DDR mutations, copy number variation counts, and tumor mutational burden between UTUC and UCB.ConclusionUTUC and UCB exhibit significant differences in the prevalence of genomic landscape and carcinogenesis. Consequently, molecular subtypes differ according to location, and these results may imply the site-specific management of patients with urothelial carcinoma. Mutational signature may be used as a screening tool to assist clinical differential diagnosis between UTUC and UCB.Implications for practiceThis study's findings lay the foundation for a deeper understanding of distinct molecular mechanisms and similar treatment opportunities between upper tract urothelial carcinoma (UTUC) and urothelial carcinoma of the bladder (UCB) and had important implications for the site-specific management of patients with urothelial carcinoma. A comprehensive understanding of the biology of UTUC and UCB is needed to identify new drug targets in order to improve clinical outcomes.

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Bladder urothelial carcinoma extending to rectal mucosa and presenting with rectal bleeding.

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