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Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Genomic profiling of urological malignancies using tissue-based next generation sequencing.

Zainab I Alruwaii¹, Gamze Gokturk Ozcan², Oudai Hassan³

¹Department of Pathology and Laboratory Medicine, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia.

Urologic Oncology

|May 23, 2025

Summary

Genomic analysis revolutionizes cancer care, identifying key mutations in kidney, bladder, prostate, and penile cancers. Understanding these genetic drivers improves diagnosis, prognosis, and personalized targeted therapies for better patient outcomes.

Keywords:

Germ cell tumors Penile cancer Prostatic adenocarcinoma Renal cell carcinoma, Urothelial Testis Urologic malignancy

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Area of Science:

Oncology
Genomics
Molecular Pathology

Background:

Genomic understanding of human malignancies has advanced from morphology to DNA/RNA analysis and gene expression profiling.
Molecular diagnostics are crucial in urologic oncology for diagnosis, prognosis, and guiding therapy.
Specific genomic alterations are linked to different urologic cancers, influencing treatment.

Purpose of the Study:

To review the role of molecular diagnostics in urologic malignancies.
To highlight key genomic drivers in renal cell carcinoma, urothelial carcinoma, prostate cancer, and penile cancer.
To discuss the impact of these advances on targeted therapy and personalized medicine.

Main Methods:

Review of current literature on genomic alterations in urologic cancers.
Analysis of DNA, RNA, and gene expression profiling data.
Correlation of molecular findings with clinical relevance, prognosis, and therapeutic response.

Main Results:

Renal cell carcinoma: VHL, PBRM1, BAP1 alterations impact therapy.
Urothelial carcinoma: FGFR3 mutations and TERT promoter alterations guide targeted therapy.
Prostate cancer: TMPRSS2-ERG fusions and BRCA2 mutations affect treatment strategies.
Penile cancer: HPV-dependent/independent pathways with TP53 and CDKN2A mutations.

Conclusions:

Advances in molecular pathology enhance understanding and enable novel targeted therapies.
Personalized treatments targeting specific molecular alterations promise improved patient outcomes.
Further research is needed to address variable patient responses and optimize management strategies.