Lymphangiomyomatosis of the uterus associated with tuberous sclerosis and malignant neoplasia of the female genital tract: a report of two cases.

Lymphangiomyomatosis (LAM) is a rare disease that does not generally affect the female genital tract. We report two cases of uterine involvement by LAM in young women with tuberous sclerosis and renal angiomyolipomas. In both, the uterine lesions were grossly inapparent and were discovered during microscopic examination of hysterectomy specimens removed during surgical treatment for a primary ovarian adenocarcinoma with peritoneal and lymph node metastases in one case and a retroperitoneal lymphangiomyoma in the other. In one case, an area of uterine LAM with atypical features was interpreted as focal sarcomatous transformation. This patient also had pelvic and paraaortic lymph node involvement by typical lymphangiomyomas, a small uterine angiomyoma, and an occult primary endometrial adenocarcinoma. Immunostains for HMB-45 were strongly positive in the uterine LAM in both cases, the retroperitoneal and lymph node lymphangiomyomatous lesions, the uterine angiomyoma, and a resected renal angiomyolipoma. Although LAM is a rare uterine lesion, it must be distinguished from a variety of uterine smooth-muscle tumors.