Common hereditary kidney cancer

Kidney cancer is a common tumor in urology, accounting for 2% to 3% of all adult malignant tumors. The incidence rate increases by 2% every year worldwide, and nearly 10,000 patients die from kidney cancer every year. Kidney cancer has two forms of onset: hereditary and sporadic. Hereditary kidney cancer accounts for about 4% of all kidney cancers. Common hereditary kidney cancers include the following:

1. VHL disease (Von Hippel-Lindaudiase): VHL disease is an autosomal dominant genetic disease and a familial tumor syndrome involving multiple systemic lesions. Its clinical features include: hemangioblastomas of the cerebellum, retina, and spinal cord, renal cell carcinoma, pheochromocytoma, and renal cysts. The incidence of renal cancer in VHL disease is as high as 1% (28-45%), and all pathological types are clear cell carcinoma. In clinical practice, VHL renal cancer is mostly bilateral multiple renal cancer, which progresses slowly and metastasizes late. It is generally believed that clinical observation can be performed when the tumor is small, and tumor resection can be performed when the tumor diameter is greater than 3 cm, and the residual kidney should be preserved as much as possible.

2. Hereditary papillary renal cell carcinoma (HPRC) HPRC is an autosomal dominant genetic disease, and the pathological types of the tumors are all type I papillary renal cell carcinoma. The clinical characteristics of HPRC are similar to those of VHL disease renal cell carcinoma, mostly bilateral multiple renal cell carcinomas, with a later age of onset and slower progression. It is generally recommended to perform tumor resection when the tumor is large.

3. Hereditary leiomyomatosis renal cell carcinoma (HLRCC). HLRCC is an autosomal dominant genetic disease, which manifests as renal cancer with multiple skin leiomyomas, multifocal uterine leiomyoma or uterine leiomyosarcoma. The pathological type of renal cancer is mostly type II papillary renal carcinoma. The clinical characteristics of HLRCC are significantly different from other types of hereditary renal cancer. HLRCC is mostly a single tumor that occurs on one side, occurs at an early age, is highly invasive, and is prone to early metastasis. Therefore, early diagnosis and surgical treatment are very important.

4. BHD syndrome (Birt-Hogg-Dub6 syndrome) is an autosomal dominant genetic syndrome involving multiple systems of the body. Typical manifestations are multiple fibrofollicular tumors in the head, neck and upper limbs, and may be accompanied by lung cysts and colon polyps. Most patients have benign skin lesions such as fibrofollicular proliferation. Multiple small round papules on the face, neck and upper trunk are characteristic lesions of this syndrome. 15%-25% of patients have renal tumors, including oncocytoma, chromophobe cell carcinoma, clear cell carcinoma and papillary carcinoma, and renal cysts may also occur. Chromophobe cell carcinoma is the most common renal malignant tumor, followed by clear cell carcinoma. In addition, lesions such as lung cysts and spontaneous pneumothorax may also occur.