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A rare autopsy case of malignant transcription factor E3 (TFE3)-rearranged perivascular epithelioid cell tumor (PEComa)-like neoplasm is presented. An 84-year-old woman manifested multiple cerebral infarctions and repetitive embolic events in the supra mesenchymal artery (SMA), and the presence of a mobile mass in the heart's left ventricle was also revealed. Tumoral lesions were also found in a pelvic space and a right pleural cavity, and a biopsy was performed from one of the disseminated tumor masses in the right pleura.

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A desmoplastic small round cell tumor (DSRCT) presented in a 13-year-old female with an acute abdomen due to torsion of a fallopian tube cyst. She was found to have an incidental 2 cm pedunculated, solid, and multicystic mass attached to the pelvic floor on laparoscopy. The neoplasm had a variably myxoid and spindle cell pattern with nests and cords of small cells, forming pseudocysts, and true cysts lined by ciliated epithelium which were PAX-8+ and ER+/PR+.

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Pelvic Desmoplastic Small Round Cell Tumor on 18F-PSMA PET/CT.

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From the Department of Nuclear Medicine, the First Medical Centre, Chinese PLA General Hospital, Beijing, China.

Desmoplastic small round cell tumor (DSRCT) as a subtype of sarcoma is rare and aggressive. We present the case of a 23-year-old man with a histologically confirmed DSRCT who underwent 18F-PSMA PET/CT before prostate biopsy and surgical resection of the tumor. It is well known that PSMA PET has a high accuracy for detecting clinically significant prostate adenocarcinoma and is useful in guiding prostate biopsy.

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Pelvic Desmoplastic Small Round Cell Tumor on 18F-PSMA PET/CT.

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From the Department of Nuclear Medicine, the First Medical Centre, Chinese PLA General Hospital, Beijing, China.

Desmoplastic small round cell tumor (DSRCT) as a subtype of sarcoma is rare and aggressive. We present the case of a 23-year-old man with a histologically confirmed DSRCT who underwent 18F-PSMA PET/CT before prostate biopsy and surgical resection of the tumor. It is well known that PSMA PET has a high accuracy for detecting clinically significant prostate adenocarcinoma and is useful in guiding prostate biopsy.

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Article Synopsis
  • Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is a rare genetic muscle disorder caused by mutations in the CAPN3 gene, leading to progressive muscle weakness.
  • A case study of a 17-year-old boy with LGMDR1 revealed he developed a desmoplastic small round cell tumor (DSRCT), a rare and aggressive type of cancer, confirmed through molecular tests.
  • Despite thorough genetic testing, no known childhood cancer predisposition genes were found, highlighting the need for more research into the potential cancer risks associated with LGMDR1.
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