Hereditary non-VHL clear cell renal cell carcinomas
Hereditary non-VHL clear cell renal cell carcinoma (ccRCC) is a rare type of kidney cancer that arises from the nephrons, the kidneys' filtering units, characterized by clear cytoplasm in the cancer cells. Unlike the more common VHL gene-related ccRCC, this hereditary form does not involve the VHL gene mutation, and its specific genetic causes are not clearly identified, though there may be links to chromosome 3 translocations. The primary risk factor is having a family history of clear cell renal cell carcinoma without the presence of a VHL gene mutation. Symptoms typically do not appear until the tumor has grown large or metastasized, which may lead to indicators such as blood in the urine, abdominal mass, and back pain. Screening is not routine but is recommended for those with a family history. Diagnosis usually involves imaging techniques like CT scans or MRIs, along with biopsies to confirm cancer type. Treatment primarily involves the surgical removal of the affected kidney, utilizing techniques such as ablation, with chemotherapy and radiation considered only in advanced stages. The prognosis varies based on tumor stage, with localized cases having better survival rates compared to those with advanced disease. Unfortunately, there are currently no preventive measures for this type of cancer.
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Hereditary non-VHL clear cell renal cell carcinomas
ALSO KNOWN AS: Hereditary non-VHL ccRCC, familial non-VHL CCRCC
Related condition: Clear cell renal cell cancer (ccRCC)
DEFINITION: Hereditary non-VHL clear cell renal cell carcinoma is a cancer that develops in the nephrons, the filtering parts of the kidney. Its cells are characterized by clear cytoplasm. The VHL (von Hippel-Lindau disease) gene, a more common cause of clear cell renal cell carcinoma, does not initiate angiogenesis (tumor formation) in these cases. The exact genetic cause is unknown, but there appears to be an association with translocations in chromosome 3.
Risk factors: The primary is a family history of clear cell renal cell carcinoma in the absence of the VHL gene mutation.
Etiology and the disease process: Hereditary non-VHL clear cell renal cell carcinoma arises from a single cell of the tubular epithelium of the nephron. It spreads through the and the bloodstream. The most common sites of metastases are the other kidney, the lung, the adrenal gland, the bones, or the liver.
Incidence: Hereditary non-VHL clear cell renal cell carcinoma is very rare. Of all kidney cancers, ccRCC makes up 80 percent of cases in adults and 2 to 6 percent of cases in children.
Symptoms: Typically, this type of kidney cancer appears as a single tumor. There are no symptoms until the tumor has become large or metastasized. The symptoms are 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 non-VHL clear cell renal cell carcinoma. However, if a person has a family member with the disease, that person and other family members would be screened annually. Both screening and diagnosis are performed by abdominal computed (CT) scan, ultrasound, or (MRI). A is done 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 non-VHL clear cell 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: Usually, the affected kidney is removed, although sometimes only part of the kidney is removed. This may involve radiofrequency ablation (destroying the tumor with radiation), cryoablation (freezing), or arterial embolization.
Kidney cancers, including hereditary non-VHL clear cell renal cell carcinoma, are not treated with chemotherapy or radiation therapy unless they are stages III or IV, as these therapies are not as effective as surgical treatments, immunotherapies, and targeted drugs.
Prognosis, prevention, and outcomes: The prognosis depends on the stage of the tumor. With stages I and II, surgical intervention is likely to remove the cancer. With stage III and IV kidney cancer, the prognosis is guarded and depends on the patient’s response to chemotherapy. For all patients with ccRCC, the five-year survival rate is 50 to 70 percent for those with localized tumors and about 10 percent for those with cancer that has spread to other body areas. Hereditary non-VHL clear cell renal cell carcinoma cannot be prevented.
Bibliography
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