Rare Diseases Symptoms Automatic Extraction

Lipomatous tumors of the anterior mediastinum with muscle differentiation: a clinicopathological and immunohistochemical study of three cases.

[well-differentiated liposarcoma]

Three cases of primary lipomatous tumors of the anterior mediastinum with prominent muscle differentiation are presented. The patients were two women and one man between the age of 52 and 68 years. All patients presented with progressive shortness of breath. Radiographically, all patients demonstrated anterior mediastinal tumors which were surgically resected. In two cases, the gross findings were those of circumscribed tumors, while one lesion was described as an ill-defined and unencapsulated neoplasm. Histologically, two cases corresponded to a well-differentiated liposarcoma, while the third was a thymolipoma. Extensive areas of smooth muscle were identified in one of the liposarcomas, while the other contained areas of mature skeletal muscle. The thymolipoma displayed a prominent myoid component. Immunohistochemical studies for muscle markers including smooth muscle actin, desmin, and myoglobin showed positive staining in the corresponding components. Follow-up information showed that one patient with liposarcoma died 60 months after initial diagnosis, while the other two patients remain alive and well 16 and 36 months after diagnosis, respectively. The current cases highlight the spectrum of muscle differentiation that can be seen in adipose tumors of the anterior mediastinum and also emphasize the difficulty that such a diagnosis can pose when confronted with limited mediastinoscopic biopsies.

Diseases presenting "skeletal muscle" symptom

  • cadasil
  • epidermolysis bullosa simplex
  • esophageal adenocarcinoma
  • focal myositis
  • hereditary cerebral hemorrhage with amyloidosis
  • inclusion body myositis
  • lamellar ichthyosis
  • neuralgic amyotrophy
  • pleomorphic liposarcoma
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • systemic capillary leak syndrome
  • well-differentiated liposarcoma

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