Hereditary papillary renal cell carcinomas
Hereditary papillary renal cell carcinoma (HPRCC) is a rare form of kidney cancer that originates in the nephrons, characterized by fingerlike projections of tumor tissue. It is classified as type 1 papillary renal cell carcinoma and is primarily linked to genetic mutations in the MET gene. A significant risk factor for developing HPRCC is having a family history of the condition, which is more prevalent among men and African Americans. Symptoms typically manifest only when the tumors grow large enough to impair kidney function, leading to issues such as hematuria (blood in urine), abdominal masses, and flank pain.
Diagnosis primarily occurs through imaging techniques like CT scans, ultrasounds, or MRIs, and a biopsy is necessary to confirm the cancer type. Treatment commonly involves partial nephrectomy or tumor destruction through methods such as radiofrequency ablation or cryoablation. Although HPRCC generally has a better prognosis compared to other kidney cancers due to its lower likelihood of metastasis, it may still lead to chronic kidney issues, particularly in advanced stages. Currently, there are no known preventive measures for HPRCC, emphasizing the importance of genetic awareness for those with a family history of the disease.
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Hereditary papillary renal cell carcinomas
ALSO KNOWN AS: HPRCC
Related condition: Papillary renal cell carcinomas
DEFINITION: Hereditary papillary renal cell carcinoma develops in the nephrons, the filtering parts of the kidney. Fingerlike projections from the tumor characterize papillary tumors. There are two types of papillary renal cell cancers, and HPRCC is type 1.
Risk factors: The primary is a family history of hereditary papillary renal cell carcinoma.
Etiology and the disease process: Hereditary papillary renal cell carcinoma is characterized by multifocal sites of papillary tumor development within one or both kidneys. These sites develop concurrently rather than spreading from an initial site and often vary in size. Research demonstrates that a mutation in the MET gene causes hereditary papillary renal cell carcinoma. However, it is less aggressive than other renal cell cancers and is less likely to metastasize.
Incidence: Hereditary papillary renal cell carcinoma is quite rare. It is twice as common in men and also appears more often in African Americans than in the population as a whole.
Symptoms: Symptoms do not appear until the tumors have become large enough to interfere with kidney function. These include hematuria (blood in the urine), abdominal mass, back or flank pain, weight loss, recurrent fever, and fatigue.
Screening and diagnosis: There is no routine screening for hereditary papillary renal cell carcinoma unless a person has a family member who develops it. In this case, family members would be screened annually. Both screening and diagnosis are performed by abdominal computed tomography (CT) scan, ultrasound, or magnetic resonance imaging (MRI). A biopsy is required to determine the type of cancer. It may be performed by inserting a core needle through the skin into the kidney or by ureteroscopy. Hereditary papillary renal cell carcinoma is staged like other kidney cancers, using numeric groupings from I to IV and the TNM (tumor/lymph node/metastasis) staging system.
Treatment and therapy: Hereditary papillary renal cell carcinoma is usually treated by partial nephrectomy or by destruction of the tumor sites only. This can be performed by radiofrequency ablation (RFA), which destroys the tumor with radiation, cryoablation, freezing the tumor, or arterial embolization (TAE or transarterial embolization), eliminating the tumor’s blood supply.
The presence of many sites of hereditary papillary renal cell carcinoma makes it likely that all stages of this cancer are treated with chemotherapy, immunotherapy, and radiation. Here, the goal is to maintain some kidney function.
Prognosis, prevention, and outcomes: Hereditary papillary renal cell carcinoma is more likely to be a chronic condition because it rarely metastasizes. However, a patient with stage III or IV hereditary papillary renal cell carcinoma could require dialysis because of a lack of kidney function. Hereditary papillary renal cell carcinoma cannot be prevented.
Bibliography
"Hereditary Kidney Cancer Syndromes (PDQ®)–Patient Version." National Cancer Institute, 6 June 2024, www.cancer.gov/types/kidney/patient/kidney-genetics-pdq. Accessed 20 June 2024.
Jacoba, Isa M., and Zhichun Lu. "Hereditary Papillary Renal Cell Carcinoma." Seminars in Diagnostic Pathology, vol. 41, no. 1, Jan. 2024, pp. 28-31. doi.org/10.1053/j.semdp.2023.12.002.
"Kidney Cancer." American Cancer Society, www.cancer.org/cancer/types/kidney-cancer.html. Accessed 20 June 2024.
Malouf, Gabriel G., and Nizar M. Tannir. Rare Kidney Tumors: Comprehensive Multidisciplinary Management and Emerging. Springer, 2019.
Mendhiratta, Neil, et al. "Papillary Renal Cell Carcinoma." Urologic Oncology: Seminars and Original Investigations, vol. 39, no. 6, 2021, pp. 327-337. doi.org/10.1016/j.urolonc.2021.04.013.
"Papillary Renal Cell Carcinoma." Genetic and Rare Diseases Information Center, June 2024, rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma. Accessed 20 June 2024.