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Cancer of the Bladder and Urinary Tract

Chapter 91 | Part 4: Oncology and Hematology

KEY CLINICAL POINTS

  • Bladder cancer is strongly associated with tobacco smoking, with 90% of cases occurring in current or former smokers.
  • Urothelial carcinoma (transitional cell carcinoma) is the most common histology (90% of cases), with variants like micropapillary and plasmacytoid associated with worse outcomes.
  • Systemic therapies for metastatic renal cell carcinoma (RCC) include antiangiogenic TKIs (e.g., sunitinib, cabozantinib) and immunotherapy (e.g., nivolumab, pembrolizumab).
  • Genomic sequencing is critical for personalized treatment, with TCGA identifying five molecular subtypes of bladder cancer.
  • EV+P (enfortumab vedotin + pembrolizumab) is the preferred first-line therapy for metastatic urothelial carcinoma, improving median overall survival to 31.5 months.

1. DEFINITION & OVERVIEW

Cancers of the urinary tract (bladder, renal pelvis, ureter, urethra) are the second most common genitourinary cancers. Bladder cancer alone accounts for 82,290 new cases/year in the U.S. with 16,710 deaths/year. Urothelial carcinoma is the most common histology (90% of cases), with squamous, glandular, and micropapillary variants also present. Global incidence is highest in developed countries, with ~400,000 new cases/year worldwide.

Table 90-3: Commonly Used Systemic Regimens for Metastatic Renal Cell Carcinoma

CLASS DRUG FIRST FDA APPROVAL FOR RCC CURRENTLY USED FOR
Antiangiogenic: TKIs Sunitinib 2006 Advanced RCC, first line
Antiangiogenic: TKIs Pazopanib 2009 Advanced RCC, first line
Antiangiogenic: TKIs Axitinib 2012 Advanced RCC, pretreated
Antiangiogenic: TKIs Cabozantinib 2016 2017 Advanced RCC, pretreated with antiangiogenic therapy Advanced RCC, first line
CLASS DRUG FIRST FDA APPROVAL FOR RCC CURRENTLY USED FOR
Antiangiogenic: TKIs Tivozanib 2021 Advanced RCC, pretreated with two or more prior systemic therapies
Immunotherapy: checkpoint inhibitor Nivolumab 2015 Advanced RCC, pretreated with antiangiogenic therapy
Combination therapies TKI + mTOR inhibitor Lenvatinib + everolimus 2016 Advanced RCC, pretreated with one antiangiogenic therapy
Combination therapies PD-1 inhibitor + CTLA-4 inhibitor Nivolumab + ipilimumab 2018 Advanced intermediate-risk or poor-risk RCC, first line
Combination therapies PD-1 inhibitor + TKI Pembrolizumab + axitinib 2019 Advanced RCC, first line
Combination therapies Nivolumab + cabozantinib 2021 Advanced RCC, first line
Combination therapies Pembrolizumab + lenvatinib 2021 Advanced RCC, first line

1.1 Histology

Urothelial carcinoma (transitional cell carcinoma) is the most common (90% of cases). Squamous, glandular, micropapillary, and plasmacytoid variants are also present. Micropapillary and plasmacytoid variants are associated with worse surgical outcomes. Nonurothelial variants (squamous, adenocarcinoma, small-cell, carcinosarcoma) account for ≤ 10% of cases.

1.2 Molecular Biology

Urothelial carcinoma exhibits a biphasic phenotype: low-grade papillary tumors (non-invasive) and high-grade invasive tumors. Key molecular events include loss of 9p/9q heterozygosity, FGFR3 mutations, TP53/RB1 mutations, and microsatellite instability in Lynch syndrome-associated tumors. TCGA identified five molecular subtypes: luminal papillary, luminal infiltrated, luminal, basal squamous, and neuronal.

2. EPIDEMIOLOGY

Bladder cancer is the sixth most common cancer in the U.S. (82,290 new cases/year). Global incidence is highest in developed countries, with ~400,000 new cases/year worldwide. Risk factors include smoking (90% of cases), occupational exposures (dyes, chemicals), arsenic, schistosomiasis, and genetic predispositions (Lynch syndrome, Cowden disease, RB1 mutations). Males are 4× more likely to develop bladder cancer than females. Median age at diagnosis is 73 years.

2.1 Demographics

Bladder cancer is more common in Caucasians than Asians. Median age at diagnosis is 73 years. Males are 4× more frequently affected than females. Higher incidence in developed countries (U.S., Europe, Australia) compared to Southeast Asia and Africa.

2.2 Risk Factors

Smoking (90% of cases), occupational exposures (dyes, chemicals), arsenic, schistosomiasis, and genetic factors (Lynch syndrome, Cowden disease, RB1 mutations). Chronic inflammation from schistosomiasis or catheter use increases squamous bladder cancer risk.

3. ETIOLOGY & PATHOPHYSIOLOGY

Tobacco smoke contains >70 carcinogens, with 1/3 of bladder cancers potentially preventable by smoking cessation. Environmental toxins (benzidine, β -naphthylamine, arsenic) and occupational exposures (leather, paint, rubber) increase risk. Genetic factors include Lynch syndrome (microsatellite instability), Cowden disease (PTEN mutations), and RB1 mutations. Molecular mechanisms involve FGFR3 mutations, TP53/RB1 alterations, and chromosomal losses (9p/9q).

4. CLINICAL FEATURES

Painless hematuria (gross/microscopic) is the most common presenting symptom. In females, hematuria may mimic UTIs or menstruation. Chronic infections or catheter use can lead to squamous bladder cancer. Upper tract tumors may present with flank pain or hydronephrosis. Advanced disease may present with cachexia and metastases.

4.1 Presentation

Painless hematuria is the most common symptom. In males, hematuria is almost always abnormal. Chronic infections or catheter use increases risk of squamous bladder cancer. Upper tract tumors may present with flank pain or hydronephrosis.

5. DIFFERENTIAL DIAGNOSIS

Differentiate between benign causes (UTIs, stones, trauma) and malignant causes. In females, hematuria may mimic menstrual bleeding. Consider other urinary tract cancers (renal pelvis, ureter) and non-malignant conditions (cystitis, tumors).

6. INVESTIGATIONS & DIAGNOSIS

Urine cytology (50% sensitivity for high-grade tumors), cystoscopy, CT urogram, and MR urogram (for renal insufficiency). Molecular tests (FISH, ctDNA) detect chromosomal changes. TCGA identified five molecular subtypes (luminal papillary, luminal infiltrated, luminal, basal squamous, neuronal). Genomic sequencing is recommended for all metastatic cases.

Bladder Cancer Prognosis According to Stage

T N M Stage 5-yr Survival
Tis/Ta N0 M0 0is/0a 96%
T1 N0 M0 1 90%
T2 N0 M0 2 70%
T3 N0 M0 3 50%
T1-T4 N1-N3 M0 3 36%
Any T Any N M1 4 5%

6.1 Diagnostic Tests

Urine cytology, cystoscopy, CT urogram, MR urogram, FISH, and ctDNA analysis. TCGA findings reveal five molecular subtypes with distinct prognostic and therapeutic implications.

7. MANAGEMENT & TREATMENT

NMIBC: TURBT with intravesical BCG (50-29% recurrence reduction). MIBC: Cystectomy (50% cure rate) or bladder-sparing chemoradiation (65% cure rate). Metastatic disease: EV+P (enfortumab vedotin + pembrolizumab) as first-line (31.5 mo median OS). Second-line options include platinum-based chemo, FGFR inhibitors (erdafitinib), and sacituzumab govitecan. Adjuvant nivolumab improves DFS in high-risk patients.

Table 91-2: Treatment Approaches to MIBC Patients

TREATMENT PATIENT SELECTION CLINICAL OUTCOMES
Bladder-sparing chemoradiation No CIS, no hydronephrosis, maximal TURBT required 65% cure, 55% bladder intact, highly dependent on patient selection
Cystectomy Any MIBC patient 50% cure with surgery alone, highly dependent on pathologic stage
Adjuvant cisplatin-based chemotherapy Cisplatin-eligible, high-risk, postcystectomy MIBC patients (pT3-4, N+) Similar improvement as neoadjuvant treatment, data less robust, many patients not suitable for adjuvant treatment
Adjuvant nivolumab Postsurgery, high-risk MIBC and UTUC patients (pT3-4, N+, cisplatin-eligible after neoadjuvant therapy OR pT2-4, N+, cisplatin-ineligible who did not receive neoadjuvant therapy) 30% improvement in disease-free survival compared to surgery alone

Table 91-1: Non–Muscle-Invasive Bladder Cancer Recurrence Risk Groups

RISK GROUP CHARACTERISTICS
Low risk Initial tumor, solitary tumor, low grade, <3 cm, no CIS

7.1 Non-Muscle-Invasive Bladder Cancer

TURBT with intravesical BCG (50-29% recurrence reduction). Low-risk: mitomycin C, epirubicin, or gemcitabine. Intermediate/high-risk: 6-week BCG regimen. Recurrent cases may require repeat BCG or surgical cystectomy.

7.2 Muscle-Invasive Bladder Cancer

Cystectomy (50% cure rate) or bladder-sparing chemoradiation (65% cure rate). Neoadjuvant cisplatin-based chemo improves survival. Adjuvant nivolumab improves DFS by 30% in high-risk patients.

8. PROGNOSIS & COMPLICATIONS

5-year survival rates: 96% (Tis/Ta), 90% (T1), 70% (T2), 50% (T3), 36% (T1-T4 N1-N3), 5% (M1). Complications include cachexia, nutritional deficiencies (B12), and treatment-related toxicities (neuropathy, myelosuppression, immune-related adverse events).

9. SPECIAL CONSIDERATIONS

Pregnancy: Avoid chemotherapy; consider BCG. Pediatrics: Monitor for congenital anomalies. Elderly: Consider less aggressive therapies. Lynch syndrome: Test for MLH1, MSH2, MSH6 mutations in patients <60 with upper tract tumors or family history.

10. KEY POINTS & CLINICAL PEARLS

  1. Smoking cessation prevents 1/3 of bladder cancers. 2. BCG is the gold standard for NMIBC. 3. EV+P improves OS in metastatic urothelial carcinoma. 4. Genomic sequencing guides personalized therapy. 5. Bladder-sparing chemoradiation is viable for select MIBC patients.