Head ; pathology ; Head and Neck Neoplasms ; diagnosis ; Humans ; Neck ; pathology ; Sarcoma, Alveolar Soft Part ; diagnosis

Adult ; Cervix Uteri ; pathology ; Female ; Humans ; Sarcoma, Alveolar Soft Part ; diagnosis ; Uterine Cervical Neoplasms ; diagnosis

Alveolar soft part sarcoma (ASPS) is an extremely rare malignant soft tissue sarcoma primarily affecting young patients. It usually occurs in the lower extremities, although it can occur in soft tissue anywhere in the body. However, to our knowledge, there has been no case of primary ASPS originating from the kidney in the literature. We herein present the imaging and clinical features of an ASPS which occurred in a 16-year-old male presented as a palpable mass in the left side of the abdomen.
Adolescent ; Biopsy ; Diagnostic Imaging/methods ; Humans ; Kidney/pathology ; Kidney Neoplasms/*diagnosis/pathology ; Male ; Rare Diseases/*diagnosis/pathology ; Sarcoma, Alveolar Soft Part/*diagnosis/pathology

Adenocarcinoma ; metabolism ; pathology ; Adult ; Desmin ; metabolism ; Diagnosis, Differential ; Humans ; Lung Neoplasms ; secondary ; Lymphatic Metastasis ; Male ; Melanoma ; metabolism ; pathology ; Rhabdomyosarcoma, Alveolar ; metabolism ; pathology ; surgery ; Sarcoma, Alveolar Soft Part ; metabolism ; pathology ; Testicular Neoplasms ; metabolism ; pathology ; surgery ; Testis ; metabolism ; pathology

Alveolar soft part sarcoma (ASPS) is a rare malignant soft-tissue neoplasm of unknown histogenesis. The two main sites of occurrence are the lower extremities in adults and the head and neck in children. We report the first case of pleural ASPS occurring in a 58-yr-old man who presented with progressive dyspnea. A computed tomographic scan of the thorax revealed a large enhancing pleural mass with pleural effusion in the left hemithorax. Wide excision of the pleural mass was performed. Histologically, the tumor consisted of organoid nests of large polygonal cells, the cytoplasm of which had eosinophilic and D-PAS positive granules. Immunohistochemical staining showed that the tumor cell nuclei were positive for transcription factor 3 (TFE3). The pleural ASPS with multiple bone metastases recurred 1 yr after surgery and the patient died of acute pulmonary embolism 1.5 yr after diagnosis.
Bone Neoplasms/diagnosis/secondary ; Dyspnea/etiology ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Pleura/physiopathology ; Positron-Emission Tomography and Computed Tomography ; Pulmonary Embolism/diagnosis ; Sarcoma, Alveolar Soft Part/*diagnosis/pathology/radiography ; Soft Tissue Neoplasms/*diagnosis/pathology/radiography ; Transcription Factor 3/metabolism

OBJECTIVETo study the clinicopathologic features and differential diagnosis of alveolar soft part sarcoma (ASPS).

METHODSThe clinical data and pathologic features of 48 cases of ASPS were evaluated. Immunohistochemical study, PAS staining and fluorescence in-situ hybridization (FISH) were carried out in selected examples. Relevant literature was reviewed.

RESULTSAmongst the 48 cases studied, there were 17 males and 31 females, with male-to-female ratio of 1.0∶1.8. The age of patients ranged from 2 to 60 years (median=26 years). The tumor was most commonly located in deep soft tissue, especially that of lower extremities. Histologically, the tumor cells were arranged in alveolar or solid patterns and separated by sinusoidal vessels. They were large and contained abundant eosinophilic granules or crystals in cytoplasm. The nuclei were round to polygonal and vesicular, often with prominent nucleoli. Intravascular tumor extension was common. Some cases showed necrosis, hemorrhage and cystic changes. Immunohistochemical study showed that the tumor cells were positive for TFE3 (100%, 33/33). FISH assay was carried out in 4 cases and all of them had TFE3-ASPL gene fusion.

CONCLUSIONSASPS is a rare malignant neoplasm, often occurs in young patients. TFE3 is a useful immunohistochemical marker for diagnosis. The diagnosis is further confirmed by other markers.

Adolescent ; Adult ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; genetics ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Gene Fusion ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; Sarcoma, Alveolar Soft Part ; diagnosis ; pathology ; Young Adult

Adult ; Desmin ; metabolism ; Diagnosis, Differential ; Diagnostic Errors ; Humans ; Male ; Melanoma-Specific Antigens ; metabolism ; Meningeal Neoplasms ; metabolism ; pathology ; radiotherapy ; surgery ; Meningioma ; metabolism ; pathology ; Paraganglioma ; metabolism ; pathology ; Sarcoma, Alveolar Soft Part ; metabolism ; pathology ; radiotherapy ; surgery ; Sarcoma, Clear Cell ; metabolism ; pathology ; Tomography, X-Ray Computed ; Vimentin ; metabolism

Adult ; Antibodies, Monoclonal ; metabolism ; Diagnosis, Differential ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Lung Neoplasms ; metabolism ; pathology ; surgery ; Male ; MyoD Protein ; metabolism ; Pneumonectomy ; Pulmonary Veins ; metabolism ; pathology ; surgery ; S100 Proteins ; metabolism ; Sarcoma, Alveolar Soft Part ; metabolism ; pathology ; surgery ; Vascular Neoplasms ; metabolism ; pathology ; surgery