BCOR upregulation in a poorly differentiated synovial sarcoma with SS18L1-SSX1 fusion—A pathologic and molecular pitfall

Yu-Chien Kao, Yun Shao Sung, Lei Zhang, Samuel Kenan, Samuel Singer, William D. Tap, David Swanson, Brendan C. Dickson, Cristina R. Antonescu

研究成果: 雜誌貢獻文章

12 引文 (Scopus)

摘要

The diagnosis of poorly differentiated synovial sarcoma (PD-SS) may be challenging due to overlapping morphologic features with other undifferentiated round cell sarcomas (URCS). Particularly relevant is the histologic overlap and shared BCOR overexpression between a subset of SS and URCS with various BCOR genetic abnormalities. Here, we report a case of PD-SS lacking the canonical SS18-SSX gene fusion, but showing strong BCOR immunoreactivity and BCOR gene abnormalities by FISH, which were misinterpreted as a URCS with BCOR gene rearrangements. The tumor had an unusual clinical presentation arising as an intraneural tumor in the ankle of a 29-year-old female. The tumor displayed a mixture of fascicular spindle cells and undifferentiated round cell components. FISH studies showed no SS18 gene abnormality; however, RNA sequencing identified a fusion transcript involving SS18L1 (a paralog gene of SS18 at 20q13.33) and SSX1. Further FISH testing validated rearrangements in SSX1 and SS18L1 genes, in addition to complex structural abnormalities of the Xp11.22-4 region. This is the second reported SS case harboring an SS18L1-SSX1 alternative fusion variant, similarly occurring in association with a large nerve. The lack of SS18 gene rearrangements by FISH corroborated with the BCOR overexpression at both mRNA and protein level may result in diagnostic pitfalls with URCS with BCOR gene abnormalities. Our results further suggest that BCOR upregulation is emerging as a common downstream pathway for SS with either typical SS18-SSX transcript or with rare fusion variants, such as SS18L1-SSX.

原文英語
頁(從 - 到)296-302
頁數7
期刊Genes Chromosomes and Cancer
56
發行號4
DOIs
出版狀態已發佈 - 四月 1 2017

指紋

Synovial Sarcoma
Up-Regulation
Sarcoma
Gene Rearrangement
Genes
RNA Sequence Analysis
Neoplasms
Gene Fusion
Cellular Structures
Ankle
Messenger RNA
Proteins

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

引用此文

BCOR upregulation in a poorly differentiated synovial sarcoma with SS18L1-SSX1 fusion—A pathologic and molecular pitfall. / Kao, Yu-Chien; Sung, Yun Shao; Zhang, Lei; Kenan, Samuel; Singer, Samuel; Tap, William D.; Swanson, David; Dickson, Brendan C.; Antonescu, Cristina R.

於: Genes Chromosomes and Cancer, 卷 56, 編號 4, 01.04.2017, p. 296-302.

研究成果: 雜誌貢獻文章

Kao, Y-C, Sung, YS, Zhang, L, Kenan, S, Singer, S, Tap, WD, Swanson, D, Dickson, BC & Antonescu, CR 2017, 'BCOR upregulation in a poorly differentiated synovial sarcoma with SS18L1-SSX1 fusion—A pathologic and molecular pitfall', Genes Chromosomes and Cancer, 卷 56, 編號 4, 頁 296-302. https://doi.org/10.1002/gcc.22435
Kao, Yu-Chien ; Sung, Yun Shao ; Zhang, Lei ; Kenan, Samuel ; Singer, Samuel ; Tap, William D. ; Swanson, David ; Dickson, Brendan C. ; Antonescu, Cristina R. / BCOR upregulation in a poorly differentiated synovial sarcoma with SS18L1-SSX1 fusion—A pathologic and molecular pitfall. 於: Genes Chromosomes and Cancer. 2017 ; 卷 56, 編號 4. 頁 296-302.
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AU - Zhang, Lei

AU - Kenan, Samuel

AU - Singer, Samuel

AU - Tap, William D.

AU - Swanson, David

AU - Dickson, Brendan C.

AU - Antonescu, Cristina R.

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N2 - The diagnosis of poorly differentiated synovial sarcoma (PD-SS) may be challenging due to overlapping morphologic features with other undifferentiated round cell sarcomas (URCS). Particularly relevant is the histologic overlap and shared BCOR overexpression between a subset of SS and URCS with various BCOR genetic abnormalities. Here, we report a case of PD-SS lacking the canonical SS18-SSX gene fusion, but showing strong BCOR immunoreactivity and BCOR gene abnormalities by FISH, which were misinterpreted as a URCS with BCOR gene rearrangements. The tumor had an unusual clinical presentation arising as an intraneural tumor in the ankle of a 29-year-old female. The tumor displayed a mixture of fascicular spindle cells and undifferentiated round cell components. FISH studies showed no SS18 gene abnormality; however, RNA sequencing identified a fusion transcript involving SS18L1 (a paralog gene of SS18 at 20q13.33) and SSX1. Further FISH testing validated rearrangements in SSX1 and SS18L1 genes, in addition to complex structural abnormalities of the Xp11.22-4 region. This is the second reported SS case harboring an SS18L1-SSX1 alternative fusion variant, similarly occurring in association with a large nerve. The lack of SS18 gene rearrangements by FISH corroborated with the BCOR overexpression at both mRNA and protein level may result in diagnostic pitfalls with URCS with BCOR gene abnormalities. Our results further suggest that BCOR upregulation is emerging as a common downstream pathway for SS with either typical SS18-SSX transcript or with rare fusion variants, such as SS18L1-SSX.

AB - The diagnosis of poorly differentiated synovial sarcoma (PD-SS) may be challenging due to overlapping morphologic features with other undifferentiated round cell sarcomas (URCS). Particularly relevant is the histologic overlap and shared BCOR overexpression between a subset of SS and URCS with various BCOR genetic abnormalities. Here, we report a case of PD-SS lacking the canonical SS18-SSX gene fusion, but showing strong BCOR immunoreactivity and BCOR gene abnormalities by FISH, which were misinterpreted as a URCS with BCOR gene rearrangements. The tumor had an unusual clinical presentation arising as an intraneural tumor in the ankle of a 29-year-old female. The tumor displayed a mixture of fascicular spindle cells and undifferentiated round cell components. FISH studies showed no SS18 gene abnormality; however, RNA sequencing identified a fusion transcript involving SS18L1 (a paralog gene of SS18 at 20q13.33) and SSX1. Further FISH testing validated rearrangements in SSX1 and SS18L1 genes, in addition to complex structural abnormalities of the Xp11.22-4 region. This is the second reported SS case harboring an SS18L1-SSX1 alternative fusion variant, similarly occurring in association with a large nerve. The lack of SS18 gene rearrangements by FISH corroborated with the BCOR overexpression at both mRNA and protein level may result in diagnostic pitfalls with URCS with BCOR gene abnormalities. Our results further suggest that BCOR upregulation is emerging as a common downstream pathway for SS with either typical SS18-SSX transcript or with rare fusion variants, such as SS18L1-SSX.

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