Localized retroperitoneal lymphangioleiomyomatosis mimicking malignancy. A case report and review of the literature

Arch Pathol Lab Med. 2003 Jul;127(7):879-82. doi: 10.5858/2003-127-879-LRLMM.

Abstract

Lymphangioleiomyomatosis (lymphangiomyomatosis [LAM]), a rare disease of unknown etiology that is seen only in women usually in the reproductive period, generally presents with features of pulmonary involvement. Extrapulmonary involvement, such as angiomyolipomas and retroperitoneal adenopathy, can occur in up to 75% of cases. It is very rare, however, for patients to present with features of extrapulmonary LAM. We present an unusual, localized case of LAM presenting with neurologic symptoms related to a retroperitoneal mass in a 51-year-old woman. Magnetic resonance imaging showed that the mass involved retroperitoneal lymph nodes, and a clinical diagnosis of atypical sarcoma (possibly from a uterine primary) was made. The mass was resected, and a total abdominal hysterectomy was performed. On pathologic examination, the mass showed classic histologic features of LAM with spread along lymphatic channels in the lymph nodes. Intralymphatic projections simulated lymphatic metastasis; however, the cytologic features were benign. Immunostains revealed the tumor to be positive for smooth muscle actin and desmin, but negative for HMB-45. The uterus was unremarkable, except for a subserosal leiomyoma. Although intratumoral variability for HMB-45 has recently been described, to the best of our knowledge, this is the first documented case of HMB-45-negative, histologically classic LAM. Because of the presence of several atypical features in this case, such as age, location, compressive neurologic presentation, radiologic impression of atypical sarcoma, and HMB-45 negativity, we feel that this case may represent a distinct, as yet uncharacterized variant of LAM.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Diagnosis, Differential
  • Female
  • Humans
  • Leiomyoma / diagnosis
  • Leiomyosarcoma / diagnosis
  • Lymphangioleiomyomatosis / diagnosis*
  • Middle Aged
  • Muscle Neoplasms / diagnosis
  • Muscle, Smooth, Vascular / pathology
  • Retroperitoneal Neoplasms / diagnosis*
  • Soft Tissue Neoplasms / diagnosis