Alveolar soft part sarcoma of the bladder with ASPSCR1-TFE3 gene fusion as a secondary malignancy

Daniel S. Rhee; Ira J. Dunkel; Neerav N. Shukla; Michael F. Walsh; Stephen W. Gilheeney; Anita P. Price; Cristina R. Antonescu; Todd E. Heaton

doi:10.1016/j.epsc.2017.09.007

Alveolar soft part sarcoma of the bladder with ASPSCR1-TFE3 gene fusion as a secondary malignancy

Daniel S. Rhee, Ira J. Dunkel, Neerav N. Shukla, Michael F. Walsh, Stephen W. Gilheeney, Anita P. Price, Cristina R. Antonescu, Todd E. Heaton

School of Medicine

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

1 Scopus citations

Abstract

Alveolar soft part sarcoma (ASPS) represents <1% of all soft tissue sarcomas and harbors the ASPSCR1-TFE3 translocation, which is found in pediatric renal cell carcinomas arising after chemotherapy. We present the case of a female patient, treated for metastatic retinoblastoma (Rb) with surgery, radiation, and chemotherapy at age 21 months, who was diagnosed with ASPS of the bladder 5 years later when imaging revealed a polypoid mass arising from the left bladder wall. Endoscopic biopsy and tumor resection were performed. After histopathologic confirmation of ASPSCR1-TFE3 fusion-positive ASPS, negative margins were achieved with wide local excision. At 18 months post-surgery, she remains recurrence-free.

Original language	English (US)
Pages (from-to)	19-22
Number of pages	4
Journal	Journal of Pediatric Surgery Case Reports
Volume	27
DOIs	https://doi.org/10.1016/j.epsc.2017.09.007
State	Published - Dec 2017

Keywords

ASPSCR1-TFE3 translocation
Alveolar soft part sarcoma
Bladder tumor
Retinoblastoma
Secondary malignancy

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Surgery

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10.1016/j.epsc.2017.09.007

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title = "Alveolar soft part sarcoma of the bladder with ASPSCR1-TFE3 gene fusion as a secondary malignancy",

abstract = "Alveolar soft part sarcoma (ASPS) represents <1% of all soft tissue sarcomas and harbors the ASPSCR1-TFE3 translocation, which is found in pediatric renal cell carcinomas arising after chemotherapy. We present the case of a female patient, treated for metastatic retinoblastoma (Rb) with surgery, radiation, and chemotherapy at age 21 months, who was diagnosed with ASPS of the bladder 5 years later when imaging revealed a polypoid mass arising from the left bladder wall. Endoscopic biopsy and tumor resection were performed. After histopathologic confirmation of ASPSCR1-TFE3 fusion-positive ASPS, negative margins were achieved with wide local excision. At 18 months post-surgery, she remains recurrence-free.",

keywords = "ASPSCR1-TFE3 translocation, Alveolar soft part sarcoma, Bladder tumor, Retinoblastoma, Secondary malignancy",

author = "Rhee, {Daniel S.} and Dunkel, {Ira J.} and Shukla, {Neerav N.} and Walsh, {Michael F.} and Gilheeney, {Stephen W.} and Price, {Anita P.} and Antonescu, {Cristina R.} and Heaton, {Todd E.}",

note = "Funding Information: This research was supported in part by a grant from the National Institutes of Health/National Cancer Institute (Cancer Center Support Grant #P30 CA008748 ). Publisher Copyright: {\textcopyright} 2017 The Authors",

year = "2017",

month = dec,

doi = "10.1016/j.epsc.2017.09.007",

language = "English (US)",

volume = "27",

pages = "19--22",

journal = "Journal of Pediatric Surgery Case Reports",

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AU - Rhee, Daniel S.

AU - Dunkel, Ira J.

AU - Shukla, Neerav N.

AU - Walsh, Michael F.

AU - Gilheeney, Stephen W.

AU - Price, Anita P.

AU - Antonescu, Cristina R.

AU - Heaton, Todd E.

N1 - Funding Information: This research was supported in part by a grant from the National Institutes of Health/National Cancer Institute (Cancer Center Support Grant #P30 CA008748 ). Publisher Copyright: © 2017 The Authors

PY - 2017/12

Y1 - 2017/12

N2 - Alveolar soft part sarcoma (ASPS) represents <1% of all soft tissue sarcomas and harbors the ASPSCR1-TFE3 translocation, which is found in pediatric renal cell carcinomas arising after chemotherapy. We present the case of a female patient, treated for metastatic retinoblastoma (Rb) with surgery, radiation, and chemotherapy at age 21 months, who was diagnosed with ASPS of the bladder 5 years later when imaging revealed a polypoid mass arising from the left bladder wall. Endoscopic biopsy and tumor resection were performed. After histopathologic confirmation of ASPSCR1-TFE3 fusion-positive ASPS, negative margins were achieved with wide local excision. At 18 months post-surgery, she remains recurrence-free.

AB - Alveolar soft part sarcoma (ASPS) represents <1% of all soft tissue sarcomas and harbors the ASPSCR1-TFE3 translocation, which is found in pediatric renal cell carcinomas arising after chemotherapy. We present the case of a female patient, treated for metastatic retinoblastoma (Rb) with surgery, radiation, and chemotherapy at age 21 months, who was diagnosed with ASPS of the bladder 5 years later when imaging revealed a polypoid mass arising from the left bladder wall. Endoscopic biopsy and tumor resection were performed. After histopathologic confirmation of ASPSCR1-TFE3 fusion-positive ASPS, negative margins were achieved with wide local excision. At 18 months post-surgery, she remains recurrence-free.

KW - ASPSCR1-TFE3 translocation

KW - Alveolar soft part sarcoma

KW - Bladder tumor

KW - Retinoblastoma

KW - Secondary malignancy

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Alveolar soft part sarcoma of the bladder with ASPSCR1-TFE3 gene fusion as a secondary malignancy

Abstract

Keywords

ASJC Scopus subject areas

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