familial renal papillary carcinoma

Familial Renal Papillary Carcinoma: A Rare Autosomal Dominant Disease

Familial renal papillary carcinoma, also known as hereditary papillary renal carcinoma (HPRC), is a rare autosomal dominant disease characterized by the development of multiple papillary type I renal cell carcinomas. This condition predisposes individuals to bilateral and multifocal papillary renal cell carcinoma (RCC) [1], which is a type of kidney cancer.

Key Features:

• Autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene is sufficient to increase the risk of developing the disease [2]
• Increased risk of developing bilateral and multifocal papillary RCC in adults at an early age [3]
• Rare familial carcinoma inherited in an autosomal dominant trait [4]
• Characterized by the development of multiple, bilateral papillary renal cell carcinomas [5]

Causes:

HPRC is caused by activating mutations in the MET gene [6], which plays a crucial role in cellular growth and division. These mutations lead to the uncontrolled growth of cells in the kidneys, resulting in the formation of tumors.

Symptoms:

The only recognized manifestation of HPRC is kidney cancer [7]. The mean and median age at onset are 42 and 41 years, respectively [8], with a wide range of ages affected (19-66 years) [9].

Conclusion:

Familial renal papillary carcinoma is a rare and serious condition that requires prompt medical attention. If you or a family member has a history of kidney cancer or other related symptoms, it's essential to consult a healthcare professional for proper evaluation and treatment.

References:

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Diagnostic Tests for Familial Renal Papillary Carcinoma

Familial renal papillary carcinoma (RCC) is a rare and inherited form of kidney cancer. Diagnostic tests play a crucial role in identifying this condition, especially in individuals with a family history of the disease.

• Genetic Testing: Genetic testing is available to detect mutations in genes associated with hereditary renal cancer. This test utilizes next-generation sequencing to identify single nucleotide and copy number variants in 19 genes linked to familial RCC [3].
• Imaging Studies: Imaging studies, such as computed tomography (CT) scans and magnetic resonance imaging (MRI), are used to diagnose papillary RCC. Papillary RCC tumors are typically poorly enhancing on CT scans, making MRI a more effective diagnostic tool for this condition [2].
• Clinical Laboratory Improvement Amendments (CLIA)-Certified Laboratories: Genetic tests for HPRC are available at CLIA-certified laboratories, ensuring the accuracy and reliability of test results [1, 4].

Early Detection and Diagnosis

Early detection and diagnosis of familial RCC are critical in improving patient outcomes. If doctors discover papillary RCC tumors, especially in individuals under 45, a genetic test is likely to be performed to determine whether they have an inherited form of the disease [5].

Multidisciplinary Care

A multidisciplinary care approach, including diagnosis, medical management, genetic counseling and testing, education, and support, is essential for patients with hereditary papillary RCC. This comprehensive care model helps ensure that individuals receive the best possible treatment and support throughout their journey [9].

Based on the search results, it appears that there are limited treatment options available for familial renal papillary carcinoma (PRCC). However, here are some potential drug treatments that may be considered:

• Sunitinib: According to search result [3], sunitinib is a first-line treatment option for metastatic non-clear RCC, including PRCC. It works by inhibiting angiogenesis and has shown promise in treating PRCC.
• **Everolimus plus Bevaciz

Differential diagnosis of familial renal papillary carcinoma involves considering several conditions that may present similarly to this rare hereditary syndrome.

• Papillary adenoma: A benign tumor that can be difficult to distinguish from papillary renal cell carcinoma (RCC) based on imaging alone [8].
• Metanephric adenoma: A rare, benign tumor that can mimic the appearance of papillary RCC on imaging studies [8].
• Mucinous tubular and spindle cell carcinoma: A rare subtype of RCC that may be confused with papillary RCC due to similar histological features [8].

Genetic syndromes related to kidney cancer, such as hereditary leiomyomatosis and renal cell carcinoma (HLRCC), can also present with papillary RCC-like features, making differential diagnosis challenging.

• Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): A rare genetic syndrome that predisposes individuals to both cutaneous and uterine leiomyomas, as well as an increased risk of developing RCC [14].
• Von Hippel-Lindau disease: A rare genetic disorder characterized by the development of hemangioblastomas in various organs, including the kidneys, which can increase the risk of RCC [15].

Imaging studies, such as computed tomography (CT) and magnetic resonance imaging (MRI), play a crucial role in differentiating these conditions. For instance:

• Papillary RCCs generally exhibit mild homogeneous enhancement on CT scans, making them difficult to distinguish from hyperdense cysts [3].
• MRI is more performant for the diagnosis of papillary RCC due to its ability to better visualize the tumor's characteristics [2].

A thorough understanding of these conditions and their imaging features is essential for accurate differential diagnosis and appropriate patient management.

References:

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