Molecular diagnosis of kidney cancer

Purpose/Background: Renal cell carcinoma (RCC) is the most common urogenital cancer, responsible for ۳۰-۴۰% of deaths among those diagnosed. The disease affects men more frequently, and risk factors include obesity, hypertension, smoking, and chronic kidney disease. Improvements in diagnostic imaging techniques, such as computed tomography (CT) and magnetic resonance imaging (MRI), have led to increased detection rates over the past few decades. RCC is a heterogeneous disease consisting of several subtypes, the most common of which is clear cell carcinoma, accounting for the majority of cases. Clear cell RCC is often associated with mutations in the VHL gene, which regulates cellular responses to oxygen levels. Other genetic alterations, such as mutations in the MET gene in papillary RCC and BHD in chromophobe RCC, further underscore the disease’s genetic diversity. These findings have shifted the perception of RCC from a singular kidney disease to a metabolic disorder, offering new opportunities for targeted treatment approaches. Methods: This review synthesizes data from recent studies that focus on the genetic mutations driving RCC, advancements in diagnostic approaches, and developments in treatment options. A key focus is placed on understanding gene pathways, such as mTOR, MET, and hypoxia-inducible factors, which play a critical role in tumor development and progression. Furthermore, ongoing clinical trials investigating targeted therapies for RCC were analyzed. These therapies aim to address the molecular basis of the disease, particularly in patients with advanced or metastatic RCC. Surgical techniques, including nephron-sparing surgery, radical nephrectomy, and partial nephrectomy, were also evaluated, along with adjuvant and targeted therapies. Results: Recent research has significantly advanced the understanding of RCC’s molecular underpinnings. Molecular diagnostics and genetic profiling have been instrumental in identifying key mutations associated with different RCC subtypes, such as VHL, MET, and BHD. These insights have led to the development of novel targeted therapies that specifically address the molecular characteristics of RCC subtypes. Clinical trials targeting the mTOR and MET pathways have shown promising outcomes, particularly in patients with papillary RCC and those with advanced or metastatic disease. Surgical interventions remain essential for tumor management, but the integration of targeted therapies has improved survival rates and treatment outcomes for patients with metastatic RCC. Conclusions: The redefinition of RCC as a metabolic disorder driven by specific genetic mutations has transformed both diagnosis and treatment. Molecular profiling enables personalized treatment plans that cater to the unique genetic makeup of a patient’s tumor, offering more precise and effective therapeutic options. The development of targeted therapies, particularly those focusing on the mTOR and MET pathways, has improved treatment outcomes for patients with advanced or metastatic RCC. Continued research into the molecular pathways driving RCC is critical for future therapeutic innovations. By understanding the disease’s genetic foundation, clinicians can improve survival rates and quality of life for RCC patients.

کلیدواژه ها:

genetics ، kidney cancer ، renal cell carcinoma