Primary desmoplastic small round cell tumor of the femur
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CASE REPORT
Primary desmoplastic small round cell tumor of the femur Akihiko Yoshida & Mark A. Edgar & Joaquin Garcia & Paul A. Meyers & Carol D. Morris & David M. Panicek
Received: 12 January 2008 / Revised: 25 February 2008 / Accepted: 3 March 2008 / Published online: 10 May 2008 # ISS 2008
Abstract Desmoplastic small round cell tumor (DSRCT) is a rare malignant neoplasm typically involving the abdominal cavity of a young male. Extra-abdominal occurrence of this tumor is very rare. We report a 10-year-old girl with primary DSRCT arising within the left femur. The patient presented with knee pain, and radiological findings were strongly suggestive of osteogenic sarcoma. In addition to the typical microscopic appearance and immunophenotype, RT-PCR demonstrated the chimeric transcript of EWS-
WT1, which is diagnostic of DSRCT. Pulmonary metastases were present at initial staging studies, but no abdominal or pelvic lesion was present. Despite chemotherapy and complete tumor excision, the patient developed progressive lung and bone metastases and died 3 years after initial presentation. This is the second reported case of primary DSRCT of bone with genetic confirmation. Keywords Desmoplastic small round cell tumor . Bone neoplasms . EWS-WT1 fusion protein
Presented at the Closed Members Meeting of the International Skeletal Society, Budapest, Hungary, October 9, 2007 A. Yoshida : M. A. Edgar : J. Garcia Department of Pathology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA M. A. Edgar : P. A. Meyers : C. D. Morris : D. M. Panicek Weill Medical College of Cornell University, New York, NY 10021, USA P. A. Meyers Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA C. D. Morris Department of Surgery, Orthopaedic Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA D. M. Panicek (*) Department of Radiology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA e-mail: [email protected]
Introduction Desmoplastic small round cell tumor (DSRCT) is a rare, highly malignant neoplasm that typically affects young adults in their second and third decades of life, with a male predominance [1–3]. The patient often presents with a large mass involving the abdominal cavity and numerous small peritoneal implants. Over the last decade, DSRCT has also been reported to arise in other body sites, many of which are located near mesothelial-lined cavities [2]. Although DSRCT may rarely metastasize to bone [3], primary occurrence in bone is exceptional, with only one case with genetic confirmation documented in the literature [4]. We describe the second genetically-confirmed case of DSRCT arising from bone.
Case report A previously healthy 10-year-old girl presented with intermittent pain in the distal left thigh for 3 months. The pain was exacerbated by activity and had a night pain component. No preceding trauma was noted. Past medical,
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surgical, and family histories were
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