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

doi:10.1007/s00256-008-0501-0

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

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English (US)
Pages (from-to)	857-862
Number of pages	6
Journal	Skeletal Radiology
Volume	37
Issue number	9
DOIs	https://doi.org/10.1007/s00256-008-0501-0
State	Published - Sep 2008
Externally published	Yes

Keywords

Bone neoplasms
Desmoplastic small round cell tumor
EWS-WT1 fusion protein

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging

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10.1007/s00256-008-0501-0

Cite this

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title = "Primary desmoplastic small round cell tumor of the femur",

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.",

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AU - Yoshida, Akihiko

AU - Edgar, Mark A.

AU - Garcia, Joaquin

AU - Meyers, Paul A.

AU - Morris, Carol D.

AU - Panicek, David M.

PY - 2008/9

Y1 - 2008/9

N2 - 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.

AB - 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.

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KW - EWS-WT1 fusion protein

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Primary desmoplastic small round cell tumor of the femur

Abstract

Keywords

ASJC Scopus subject areas

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