Urothelial Cancer

Synonyms: -

Material:

FFPE tissue sections

TAT:

varies depending on the analysis

Method:

NGS

Overview

Urothelial carcinoma is the predominant malignant tumour of the urinary bladder and can also arise in the renal pelvis, ureter, and urethra. Bladder tumours are classified primarily by histological type, grade and depth of invasion into non-muscle-invasive and muscle-invasive disease. Invasive urothelial carcinoma may show divergent differentiation or distinct histological subtypes, some of which are associated with an increased risk of progression and may influence clinical management. Bladder cancer was the eighth most frequently diagnosed cancer worldwide in 2024, with an estimated 635,264 new cases and 227,626 deaths.

Clinical background and relevance

The clinical value of molecular testing depends on the disease setting. Routine somatic tumour profiling is not currently required for the diagnosis or standard management of most non-muscle-invasive or resectable muscle-invasive bladder cancers. Diagnosis and risk assessment remain based primarily on histopathology, tumour grade, depth of invasion, histological subtype, lymphovascular invasion and clinical stage.

In unresectable locally advanced or metastatic urothelial carcinoma, however, molecular testing is recommended because it can identify predictive biomarkers, establish potential eligibility for targeted or tumour-agnostic therapies, and support enrolment in clinical trials. Testing should be performed early enough to avoid delaying a later treatment decision.

The most clinically relevant analyses include:

FGFR3 alteration testing: Testing should detect clinically relevant FGFR3 sequence variants and rearrangements, particularly gene fusions. The detection of a susceptible FGFR3 alteration may establish eligibility for treatment with an FGFR inhibitor, depending on the disease setting, previous therapy and applicable regulatory approval.

HER2 immunohistochemistry: HER2 protein expression should be assessed by IHC. Strong HER2 expression, particularly IHC 3+, can identify selected patients with previously treated unresectable or metastatic disease for HER2-directed therapy when no satisfactory alternatives are available.

Mismatch-repair and microsatellite-instability testing: MSI-H or deficient mismatch repair (dMMR) is uncommon in bladder urothelial carcinoma but occurs more frequently in upper tract urothelial carcinoma. These findings may support eligibility for tumour-agnostic immunotherapy and, particularly in upper-tract urothelial carcinoma or in the presence of a suggestive personal or family history, should prompt assessment for a possible hereditary cancer predisposition such as Lynch syndrome.

Broader genomic profiling: A larger DNA- and RNA-based panel may detect rare but clinically actionable alterations, such as NTRK gene fusions, and additional alterations relevant to clinical-trial eligibility. NTRK fusions are very rare in common adult cancers and should therefore be regarded as a tumour-agnostic rather than urothelial-cancer-specific biomarker.

Bladder cancers are molecularly heterogeneous. A transcriptome-based consensus classification distinguishes six molecular classes of muscle-invasive bladder cancer. These classes provide an important research framework, but molecular subtype assignment is not currently a routine substitute for established histopathological and clinical classification or a generally validated stand-alone treatment-selection test.

Available tests

The analyses described above may be performed using different complementary methods and test orders. The targeted panels listed below cover a defined selection of molecular alterations; additional analyses are available separately or as part of comprehensive molecular profiling. The sequencing analysis and the fusion gene analysis can be ordered individually or together as one combined targeted analysis. The microsatellite instability analysis is ordered separately.

Single-method analysis	Panel	Gene scope	Purpose
Sequencing	Panel00758	ERBB2, FGFR2, FGFR3, PIK3CA	Identification of selected molecular alterations in the tumour tissue
Fusion gene analysis	Panel00756	NTRK1, NTRK2, NTRK3	Identification of selected gene fusions in the tumour tissue
Microsatellite instability (MSI) analysis	Panel00757	Microsatellite marker analysis	Determination of MSI status of the tumour

Combined analysis	Panel	Gene scope
Targeted analysis	Panel00542	ERBB2, FGFR2, FGFR3, PIK3CA, NTRK1, NTRK2, NTRK3

Additional molecular genetic analyses on tumour tissue, e.g. FGFR3 fusion analysis are also available (see Panel 00617 – ).

Therapy

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

Get in touch with us

Our team of experts is here to support you at every stage.

Your role *

Please select the option that best describes you.

FIRST NAME *

Please enter your first name.

LAST NAME *

Please enter your last name.

PHONE

Providing your phone number is optional and helps us contact you more quickly if needed.

EMAIL ADDRESS *

Please enter a valid email address

Country *

Please provide your country of residence. This information is required to route your request to the appropriate sales representative based on your location.

ORGANISATION / INSTITUTION

Please enter your organisation / institution

MESSAGE / ADDITIONAL NOTES

Please do not enter sensitive health data or special categories of personal data here. If you need to share such information, please use a secure, separate communication channel, such as encrypted email, a protected patient portal or a confidential phone call.

Your data will be used solely for processing your inquiry. For more information on how we handle your personal data and your rights, please refer to our .