Key result
Endoscopic submucosal dissection successfully resected a rare 17 × 16 × 15 mm primary alveolar soft part sarcoma of the rectum in a 46-year-old female.
Why the study?
Primary alveolar soft part sarcoma of the gastrointestinal tract is rare, and neither its clinicopathologic features nor mutational background has been clarified.
Case Report (n=1)
Primary gastrointestinal alveolar soft part sarcoma is a rare diagnostic pitfall that can be completely resected by endoscopic submucosal dissection and is characterized by ASPSCR1-TFE3 fusion.
Endoscopic resection may be feasible for localized rectal ASPS; leaves open optimal management and mutational profiling in this rare entity.
Alveolar soft part sarcoma (ASPS) is a very rare soft tissue sarcoma. Primary ASPS of the gastrointestinal tract is especially rare. Due to the scarcity of cases, neither its clinicopathologic features nor its mutational background has been clarified. Here, we report a case of ASPS arising from the rectum, which was completely resected by endoscopic submucosal dissection. The lesion was a 17 × 16 × 15 mm semi-pedunculated mass in the upper portion of the rectum in a 46-year-old female. In terms of histology, tumor cells exhibited confluent eosinophilic cytoplasm, forming a sheet-like architecture. Periodic acid Schiff-positive diastase-resistant intracytoplasmic crystals were observed in the tumor cells. Fluorescence in situ hybridization revealed TFE3 rearrangement, and reverse transcription polymerase chain reaction revealed an ASPSCR1-TFE3 type 1 fusion. Negative PAX8 immunostaining and the absence of other massive lesions in postoperative imaging studies led to a diagnosis of primary ASPS of the rectum. The potential oncogenic role of the canonical ASPSCR1-TFE3 fusion transcript in gastrointestinal ASPS was indicated. Primary gastrointestinal ASPS remains a diagnostic pitfall in routine surgical pathology.
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Nakayama et al. (2020) conducted a case report in Primary alveolar soft part sarcoma of the rectum (n=1). Endoscopic submucosal dissection was evaluated. Endoscopic submucosal dissection successfully resected a rare 17 × 16 × 15 mm primary alveolar soft part sarcoma of the rectum in a 46-year-old female.
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