hereditary renal cell carcinoma

Hereditary renal cell carcinoma (RCC) refers to a type of kidney cancer that is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to increase the risk of developing the disease. This type of RCC accounts for about 4% of all renal cell carcinomas and is often characterized by an earlier age of onset, multicentricity (multiple tumors), and bilaterality (tumors in both kidneys).

Types of Hereditary Renal Cell Carcinoma

Hereditary renal cell carcinoma syndromes include:

• Von Hippel-Lindau disease
• Hereditary leiomyomatosis and renal cell cancer (HLRCC)
• Birt-Hogg-Dubé syndrome
• Hereditary papillary renal carcinoma (HPRC)

Clinical Features

The main clinical feature of hereditary papillary RCC is the detection of a germline mutation of the c-MET gene. This can lead to the development of bilateral and multifocal classic type papillary renal cell carcinomas.

Genetic Factors

Genetic factors have been implicated in the pathogenesis of RCC, with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to translate into novel therapeutic strategies.

Age at Onset

The mean and median age at onset for hereditary papillary renal carcinoma is 42 and 41 years, respectively. The age at onset may vary widely between families, perhaps influenced by specific genotypes.

References:

• [1] Hereditary papillary renal cell carcinoma (HPRCC) is an autosomal dominant syndrome characterized by multifocal, ... examining the two in conjunction has allowed a more precise definition of each, thus both refining our understanding of renal tumors and associated cancer susceptibility syndromes. Patients with inhered cancer susceptibility ...
• [14] The only recognized manifestation of hereditary papillary renal carcinoma (HPRC) is kidney cancer. The mean and median age at onset are 42 and 41 years, respectively.
• [13] Renal cell carcinomas associated with syndromes of a heritable nature account for about 4% of all renal cell carcinomas.

Note: This description is based on the information provided in the search results within the context section.

Hereditary renal cell carcinoma (RCC) is a rare form of kidney cancer that is inherited in an autosomal dominant pattern. The signs and symptoms of this condition are often similar to those of other types of RCC, but can also include:

• Development of kidney cancer: This is the only symptom of hereditary papillary renal carcinoma, which usually occurs just after turning 40 (though the age at which cancer develops varies widely by family) [13].
• No symptoms until later stages: People with HLRCC are commonly diagnosed with kidney cancer in their forties, and may not experience any symptoms until the disease is advanced [11].

It's worth noting that hereditary renal cell carcinoma can also increase the risk of other conditions, such as:

• Uterine leiomyomas: Benign tumors that can cause heavy menstrual periods, pelvic pressure or pain, and increase the risk of kidney cancer [4].
• Skin growths: Skin growths may appear on the torso, arms, legs, and other areas of the body, which can be a sign of tuberous sclerosis complex, a genetic disorder that increases the risk of kidney cancer [5].

It's also important to note that early detection is key in treating hereditary renal cell carcinoma. If you have a family history of this condition or are experiencing any symptoms, it's essential to consult with a healthcare professional for proper evaluation and treatment.

References:

[4] - Uterine leiomyomas can cause symptoms such as heavy menstrual periods, pelvic pressure or pain, and increase the risk of kidney cancer. [5] - Skin growths may appear on the torso, arms, legs, and other areas of the body, which can be a sign of tuberous sclerosis complex, a genetic disorder that increases the risk of kidney cancer. [11] - People with HLRCC are commonly diagnosed with kidney cancer in their forties, and may not experience any symptoms until the disease is advanced. [13] - Development of kidney cancer is the only symptom of hereditary papillary renal carcinoma, which usually occurs just after turning 40 (though the age at which cancer develops varies widely by family).

Treatment Options for Hereditary Renal Cell Carcinoma (HRCC)

Hereditary Renal Cell Carcinoma (HRCC) is a rare and aggressive form of kidney cancer that can be inherited in an autosomal dominant pattern. While there are no specific treatments approved for HRCC, the following drug therapies have shown promise in clinical trials:

• Targeted therapy: Targeted drugs such as bevacizumab, erlotinib, and atezolizumab may stabilize or shrink advanced HRCC tumors [4][5]. These medications work by blocking specific proteins that promote tumor growth.
• Immunotherapy: Immunotherapies like checkpoint inhibitors (e.g., nivolumab and ipilimumab) have been used to treat HRCC, although the evidence is still emerging [2].
• Combination therapy: A combination of bevacizumab, erlotinib, and atezolizumab has shown promise in stabilizing or shrinking advanced HRCC tumors [4].

Current Treatment Guidelines

The National Comprehensive Cancer Network (NCCN) guidelines recommend treating patients with HRCC using conventional clear cell carcinoma medications, such as vascular endothelial growth factor (VEGF) inhibitors like bevacizumab [3]. However, these guidelines are based on limited evidence and may need to be updated as more research becomes available.

Ongoing Research

Researchers continue to explore new treatment options for HRCC. For example, a clinical trial is investigating the use of a combination of bevacizumab and erlotinib in patients with FHTPS/HLRCC-related RCCs [5].

It's essential to note that each patient's situation is unique, and treatment decisions should be made in consultation with a healthcare professional.

References:

[1] May 1, 2024 — Targeted drugs are used mainly to treat advanced kidney cancer. One of these drugs is typically part of the first treatment for advanced cancers. [2] by MB Atkins · Cited by 14 — - Immunotherapy · Checkpoint inhibitor immunotherapy · Combined immunotherapy plus antiangiogenic therapy · Interleukin 2 · - Molecularly ... [3] by C Zhang · 2021 · Cited by 19 — In NCCN guidelines and clinical practice, patients with HLRCC will be treated with conventional clear cell carcinoma medications, such as vascular endothelial ... [4] Combination therapy with bevacizumab, erlotinib, and atezolizumab may stabilize or shrink advanced hereditary leiomyomatosis and kidney cancer. This study is ... [5] by GA Yanus · 2024 · Cited by 1 — A combination of bevacizumab and erlotinib has been successfully utilized in clinical trials involving patients with FHTPS/HLRCC-related RCCs [99]. Several ...