What is HLRCC?

Areas of the body affected by hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is an inherited disorder that causes an increased risk of kidney cancer. It can also cause lesions in the skin and uterus (in females).

What causes HLRCC?

HLRCC is caused by mutations in the fumarate hydratase (FH) gene and is inherited in an autosomal dominant pattern. HLRCC is classified as a hereditary renal cancer syndrome, a group of disorders characterized by a genetic predisposition to renal cancer along with other symptoms.

What is SDH deficient renal cell carcinoma?

Succinate dehydrogenase (SDH) deficient renal cell carcinoma (RCC) are uncommon renal tumors that typically present in relatively younger patients. SDH mutations are known to cause cancer, but often presents with hereditary paragangliomas, pheochromocytomas, and gastrointestinal stromal tumors.

How is Reed syndrome treated?

The therapy for leiomyomas includes surgical excision for symptomatic lesions, cryotherapy and carbon dioxide laser ablation, whereas medications are directed to offer pain relief for multiple painful lesions.

How common is HLRCC?

HLRCC is a rare condition that has been reported in approximately 300 families worldwide. Researchers suggest that it may be underdiagnosed.

Can leiomyomas be cancerous?

Rarely (less than one in 1,000) a cancerous fibroid will occur. This is called leiomyosarcoma. (leye-oh-meye-oh-sar-KOH-muh) Doctors think that these cancers do not arise from an already-existing fibroid. Having fibroids does not increase the risk of developing a cancerous fibroid.

What is a Oncocytoma?

Renal oncocytomas are common benign kidney neoplasms that account for 3 to 7 percent of renal neoplasms. They usually occur in adults, most frequently in the seventh decade of life. Renal oncocytomas may be discovered incidentally or may be diagnosed with biopsy or excision.

How common is reeds syndrome?

Reed’s syndrome is a rare genodermatosis characterized by multiple cutaneous leiomyomas and uterine leiomyomas in women. When presenting with renal cell carcinoma, it is labeled as hereditary leiomyomatosis and renal cell cancer.

Is a leiomyoma benign or malignant?

Leiomyomas are benign tumors of monoclonal origin which arise from the smooth muscle of the uterus[2][8].

Can oncocytoma be malignant?

Renal oncocytomas share a similar appearance on non-invasive imaging to renal cell carcinomas, which is the most common type of kidney cancer. Unfortunately, imaging tests can’t show whether a tumor is benign or malignant. Healthcare providers may recommend surgery to remove the mass.