Unraveling the Mystery of Papillary Renal Cell Carcinoma Type 1: Genetic Testing and Beyond

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Understanding Papillary Renal Cell Carcinoma Type 1

Papillary renal cell carcinoma (pRCC) is the second most common type of kidney cancer, accounting for approximately 15-20% of all renal cell carcinomas. It is further classified into two subtypes: type 1 and type 2. Type 1 pRCC is characterized by small, basophilic cells with scant cytoplasm and low nuclear grade, while type 2 pRCC consists of larger cells with eosinophilic cytoplasm and higher nuclear grade. These two subtypes differ not only in their histological appearance but also in their clinical behavior and prognosis. Type 1 pRCC generally has a more favorable prognosis compared to type 2.

Diagnosing Papillary Renal Cell Carcinoma Type 1

Accurate diagnosis of pRCC type 1 is essential for optimal management and treatment planning. Traditionally, the diagnosis is based on histopathological examination of the tumor tissue obtained during surgery or biopsy. However, recent advancements in imaging and genetic testing have paved the way for more precise and non-invasive diagnostic methods.

A recent study presented a radiomics nomogram that combines clinical factors and radiomics signature to distinguish between pRCC type 1 and type 2 tumors preoperatively. This non-invasive prediction method, based on enhanced computed tomography (CT) scans, can help guide treatment decisions and minimize the need for invasive procedures.

Genetic Testing for Papillary Renal Cell Carcinoma Type 1

Genetic testing plays a crucial role in the diagnosis and management of pRCC type 1, as it helps identify the specific genetic mutations associated with the disease. This information can be useful in several ways:

Confirming the Diagnosis

Genetic testing can provide additional evidence to support the diagnosis of pRCC type 1, especially in cases where the histopathological findings are inconclusive or when the tumor has an unusual appearance, such as the rare collision kidney tumor consisting of clear cell RCC and papillary type 1 RCC.

Identifying Hereditary Cases

Although most cases of pRCC type 1 are sporadic, some may be hereditary. Genetic testing can help identify individuals with hereditary pRCC type 1, allowing for appropriate genetic counseling and screening of at-risk family members.

Informing Treatment Decisions

Understanding the genetic landscape of pRCC type 1 can help guide treatment decisions, as certain genetic mutations may be associated with specific therapeutic responses. For example, genetically defined pRCC type 1 cell lines can be used as preclinical models for testing targeted therapies and personalized medicine approaches.

Monitoring Disease Progression and Response to Therapy

Genetic testing can also be used to monitor the disease’s progression and response to treatment, as changes in the genetic profile of the tumor may indicate the development of resistance to certain therapies or the emergence of new therapeutic targets.

Conclusion

Genetic testing is a valuable tool in the diagnosis and management of papillary renal cell carcinoma type 1. By providing insights into the disease’s genetic underpinnings, it can help confirm the diagnosis, identify hereditary cases, inform treatment decisions, and monitor disease progression. As our understanding of the molecular biology of pRCC type 1 continues to grow, genetic testing will likely play an increasingly important role in optimizing patient care and improving outcomes.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)