Alveolar Soft Part Sarcoma
Posted: Sun May 24, 2020 9:13 am
Alveolar Soft Part Sarcoma
by Keila Torres, MD, PhD and Raphael Pollock, MD, PhD
Also available in Chinese, French, Italian, Japanese and Spanish
Abstract
Alveolar soft part sarcoma (ASPS) is a rare, poor prognosis neoplasm of unknown histogenesis with a distinctive histology, specific molecular characteristics, and unique clinical behaviors. ASPS generally develop in younger patients. Unlike other soft tissue sarcomas, ASPS also metastasizes to the brain. While surgery can improve outcomes even in the setting of metastatic disease, traditional chemotherapeutic agents and ⁄or radiotherapy have failed to demonstrate significant survival advantages. This article provides an overview of the clinical manifestations, diagnosis, radiographic features, and treatment of ASPS.
“More About Figure 5
Panel A: Non-reciprocal fusion events are uncommon in most sarcomas, but predominate in ASPS as illustrated in the (A; upper right).
Exons 3-8 or 4-8: The breakpoint in ASPSCR1 (17q25; blue), previously termed ASPL, is invariant. This results in type 1 and type 2 fusion transcripts as depicted. Type 2 contains the activation domain of TFE3 while type 1 does not, but both form novel transcription factors incorporating the DNA binding domain of TFE3 with the activation domain of ASPSCR1 and are functional. Differences in function of the protein or clinical outcomes are not described; type 1 fusion events may be more common than type 2, but only a small number of cases are reported.”
http://sarcomahelp.org/asps.html
by Keila Torres, MD, PhD and Raphael Pollock, MD, PhD
Also available in Chinese, French, Italian, Japanese and Spanish
Abstract
Alveolar soft part sarcoma (ASPS) is a rare, poor prognosis neoplasm of unknown histogenesis with a distinctive histology, specific molecular characteristics, and unique clinical behaviors. ASPS generally develop in younger patients. Unlike other soft tissue sarcomas, ASPS also metastasizes to the brain. While surgery can improve outcomes even in the setting of metastatic disease, traditional chemotherapeutic agents and ⁄or radiotherapy have failed to demonstrate significant survival advantages. This article provides an overview of the clinical manifestations, diagnosis, radiographic features, and treatment of ASPS.
“More About Figure 5
Panel A: Non-reciprocal fusion events are uncommon in most sarcomas, but predominate in ASPS as illustrated in the (A; upper right).
Exons 3-8 or 4-8: The breakpoint in ASPSCR1 (17q25; blue), previously termed ASPL, is invariant. This results in type 1 and type 2 fusion transcripts as depicted. Type 2 contains the activation domain of TFE3 while type 1 does not, but both form novel transcription factors incorporating the DNA binding domain of TFE3 with the activation domain of ASPSCR1 and are functional. Differences in function of the protein or clinical outcomes are not described; type 1 fusion events may be more common than type 2, but only a small number of cases are reported.”
http://sarcomahelp.org/asps.html