Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer.

Abstract

PURPOSE:

Hereditary leiomyomatosis and renal cell cancer is a recently described hereditary cancer syndrome in which affected individuals are at risk for cutaneous and uterine leiomyomas, and kidney cancer. Our initial experience revealed the aggressive behavior of these renal tumors, often with early metastasis, despite small primary tumor size. We report the clinical characteristics and urological treatment of patients with hereditary leiomyomatosis and renal cell cancer associated renal tumors.

MATERIALS AND METHODS:

A total of 19 patients with hereditary leiomyomatosis and renal cell cancer associated renal tumors were evaluated. The 11 women and 8 men had a median age at diagnosis of 39 years (range 22 to 67), and a median clinical and radiological followup of 34 months (range 6 to 141). Hereditary leiomyomatosis and renal cell cancer manifestations in patients with renal tumors included cutaneous leiomyomas in 11 of 17 evaluable patients (65%) and uterine leiomyomas in 7 of 7 evaluable females (100%).

RESULTS:

Median pathological tumor size was 7.8 cm (range 1.5 to 20). Histological subtypes were consistent with hereditary leiomyomatosis and renal cell cancer renal carcinoma. Four of 7 patients with 2.0 to 6.7 cm T1 tumors had spread to regional lymph nodes or metastases at nephrectomy. Overall 9 of 19 patients (47%) presented with nodal or distant metastases.

CONCLUSIONS:

Renal tumors in patients with hereditary leiomyomatosis and renal cell cancer syndrome are significantly more aggressive than those in patients with other hereditary renal tumor syndromes. In contrast to other familial renal cancer syndromes, the observation of 3 cm or less renal tumors associated with hereditary leiomyomatosis and renal cell cancer is not recommended. Careful followup of affected and at risk individuals in families is necessary.

• Authors: Robert L Grubb 3rd, Michael E Franks, Jorge Toro, Lindsay Middelton, Lynda Choyke, Sarah Fowler, Carlos Torres-Cabala, Gladys M Glenn, Peter Choyke, Maria J Merino, Berton Zbar, Peter A Pinto, Ramaprasad Srinivasan, Jonathan A Coleman, W Marston Linehan
• Journal: The Journal of urology (J Urol) Vol. 177 Issue 6 Pg. 2074-9; discussion 2079-80 (Jun 2007) ISSN: 0022-5347 [Print] United States
• PMID: 17509289 (Publication Type: Journal Article)

Topics

• Adult
• Aged
• Carcinoma, Renal Cell (mortality, pathology, therapy)
• Cohort Studies
• Female
• Humans
• Kidney Neoplasms (mortality, pathology, therapy)
• Leiomyomatosis (mortality, pathology, therapy)
• Male
• Middle Aged
• Neoplastic Syndromes, Hereditary (mortality, pathology, therapy)
• Pedigree
• Retrospective Studies
• Skin Neoplasms (mortality, pathology, therapy)
• Survival Rate
• Uterine Neoplasms (mortality, pathology, therapy)