Soft Tissue Sarcoma

Alveolar soft part sarcoma (ASPS) is characterized by the presence of an unbalanced translocation der(17)t(X;17)(p11;q25). In this 2001 paper, FISH with YAC and cosmid probes was used to localize the… (full text at CIViC)

PMID 11244503 · Ladanyi et al., 2001 · Open in CIViC

In this 2012 paper, the authors assessed potential characteristic markers in 24 alveolar soft part sarcoma (ASPS cases), age range from 13 to 61 years, and 23 non-ASPS tumors. Nuclear immunoreactivity… (full text at CIViC)

PMID 21835426 · Tsuji et al., 2012 · Open in CIViC

This study by Ju, et al. (2018) consisted of nine cases of alveolar soft part sarcoma (ASPS). The age of patients ranged from 7 to 36 years. Total mRNA was extracted from seven of the nine ASPS paraff… (full text at CIViC)

PMID 28766250 · Ju et al., 2018 · Open in CIViC

Goodwin, et al. (2014) presented in vivo study on mice carrying the ASPSCR1-TFE3 fusion gene. The results showed that Rosa26-LSL-AT3/CreER mice expressed tumors histological equal to the human’s alveo… (full text at CIViC)

PMID 25453902 · Goodwin et al., 2014 · Open in CIViC

In this 2018 study, the authors aimed to identify driver events in 'double negative' clear cell sarcoma of the kidney (CCSK) where neither BCOR ITDs nor the YWHAE::NUTM2 gene fusion are detected. Elev… (full text at CIViC)

PMID 28833375 · Wong et al., 2018 · Open in CIViC

In this 2020 study, the authors report two patients with BCOR::CCNB3 fusion-positive clear cell sarcoma of the kidney (CCSK). Cases were males aged 10 and 14 years who presented with advanced disease.… (full text at CIViC)

PMID 31876361 · Han et al., 2020 · Open in CIViC

BCOR internal tandem duplications (ITDs) were found frequently in cases of clear cell sarcoma of kidney (CCSK), a rare pediatric renal cancer. The study initially evaluated 3 CCSK samples by whole exo… (full text at CIViC)

PMID 26573325 · Roy et al., 2015 · Open in CIViC

27 cases of CCSK were profiled by whole exome sequencing and whole transcriptomics, identifying BCOR ITDs in the majority (23/27, 85%). BCOR encodes a key constituent of a variant polycomb repressive… (full text at CIViC)

PMID 26573325 · Roy et al., 2015 · Open in CIViC

In a case report, a clear cell sarcoma patient harboring BRAF V600E mutation with distant metastases was associated with a complete response to vemurafenib monotherapy at 8 weeks of treatment. Prior t… (full text at CIViC)

PMID 26286452 · Protsenko et al., 2015 · Open in CIViC

Dufresne et al. identified a CCDC171::NTRK1 fusion by whole-exome RNA sequencing in one undifferentiated pleomorphic sarcoma from an ambispective cohort of NTRK-rearranged mesenchymal tumors. The fusi… (full text at CIViC)

PMID 37054503 · Dufresne et al., 2023 · Open in CIViC

Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified a somatic RNase IIIb DICER1 mutation in 8 of 9 cases (89… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

An analysis of DICER1 mutations in anaplastic sarcoma of the kidney identified RNase IIIb DICER1 mutations in 8 of 9 cases (89%). An in vitro cleavage assay of miR122 demonstrated that three of the DI… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified at least 1 RNase IIIb DICER1 mutation in 8 of 9 cases (… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

A 33-year-old Han Chinese woman has been associated with an NTRK fusion cervical sarcoma which was positive for Pan-TRK by immunohistochemistry (IHC) analysis. However, FISH for NTRK1 was negative. Th… (full text at CIViC)

PMID 35572973 · Dang et al., 2022 · Open in CIViC

In 4 cases of Anaplastic sarcoma of the kidney ETV6::NTRK3 fusion was negative.

PMID 17895746 · Vujanić et al., 2007 · Open in CIViC

In this study, the authors analyzed 17 clear cell sarcomas from 16 patients, along with 2 positive control cell lines and 2 melanomas as negative controls, to investigate the prevalence and types of E… (full text at CIViC)

PMID 19561568 · Wang et al., 2009 · Open in CIViC

In this 2018 study by Keiko Segawa et al., the authors analyzed 22 tumors, including 16 clear cell sarcomas of soft tissue (CCSST) and 6 clear cell sarcoma–like gastrointestinal tumors (CCSLGT), to ch… (full text at CIViC)

PMID 30219084 · Segawa et al., 2018 · Open in CIViC

In this single-arm, open-label phase 2 trial, extraskeletal myxoid chondrosarcoma patients treated with pazopanib were reported and 22/23 patients (one patient died before the primary analysis) were e… (full text at CIViC)

PMID 31331701 · Stacchiotti et al., 2019 · Open in CIViC

his report confirms the therapeutic activity of sunitinib in extraskeletal myxoid chondrosarcoma. Genotype/phenotype analyses support a correlation between response and EWSR1-NR4A3 fusion.

PMID 24703573 · Stacchiotti et al., 2014 · Open in CIViC

In a sub-analysis of a randomized phase II trial in extraskeletal myxoid chondrosarcoma (EWSR1-NR4A3 and TAF15-NR4A3 fusions; n = 2) and mesenchymal chondrosarcoma (HEY1-NCOA2 fusion, n = 6)(trabected… (full text at CIViC)

PMID 27418251 · Morioka et al., 2016 · Open in CIViC

In an analysis of a cohort of desmoplastic small round cell tumor, evidence of a functional EWSR1::WT1 fusion was detected in 25 of 26 cases. In these cases, the genomic breakpoints in WT1 was in in… (full text at CIViC)

PMID 9738572 · Gerald et al., 1998 · Open in CIViC

In an analysis of 6 desmoplastic small round cell tumors, chimeric EWSR1::WT1 transcripts were detected in 4. The translocation resulted in an in-frame fusion of the N terminus (first 7 exons) of EWS… (full text at CIViC)

PMID 7862627 · Gerald et al., 1995 · Open in CIViC

gene expression assay performed earlier demonstrated a This case report of a patient with refractory breast angiosarcoma shows a potential therapeutic benefit of sunitinib due to the upregulation of V… (full text at CIViC)

PMID 25639617 · Silva et al., 2015 · Open in CIViC

In an in vitro study, A375 cell lines expressing BRAF V600E (a known sensitizing mutation to vemurafenib) and KRAS K117N co-mutations demonstrated reduced sensitivity to vemurafenib treatment, compare… (full text at CIViC)

PMID 22205714 · Su et al., 2012 · Open in CIViC

In cohort 1 of this non-randomised, phase 2 trial (SPEARHEAD-1), 52 patients, aged, 16-75, with synovial sarcoma (n = 44) and myxoid round cell liposarcoma (n=8) harboring HLA-A*02 and MAGE-A4 were tr… (full text at CIViC)

PMID 38554725 · D'Angelo et al., 2024 · Open in CIViC

28 patients were selected from a cohort of 43 patients with clear-cell sarcoma (CCSA) for this phase II trial. 26 of such patients presented with EWSR1 rearrangement and MET overexpression (MET+ cohor… (full text at CIViC)

PMID 28950372 · Schöffski et al., 2017 · Open in CIViC

In this case study, the patient, a 54-year-old African woman, presented with pelvic pain in May 2019 and was found to have a solid heterogeneous pelvic mass with areas of fluid and hemorrhagic density… (full text at CIViC)

PMID 33970096 · Pan et al., 2021 · Open in CIViC

In this phase II, multicenter study of tazemetostat (EZH2 inhibitor) in adults with INI1-negative tumors or relapsed/refractory synovial sarcoma, subjects were enrolled into one of 7 cohorts. Cohort #… (full text at CIViC)

PMID 33035459 · Gounder et al., 2020 · Open in CIViC

This study aimed to characterize the spectrum of SMARCB1 gene abnormalities in epithelioid sarcoma. 19/21 patients were SMARCB1 immunohistochemistry-negative. Multiplex ligation dependent probe amplif… (full text at CIViC)

PMID 23060122 · Sullivan et al., 2013 · Open in CIViC

In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, the overall response in 9 patients with SMARCB1-deficient epithelioid sarcoma was 22%, with 1 complet… (full text at CIViC)

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Treatment with tazemetostat , a small-molecule inhibitor of EZH2, results in concentration-dependent cell growth inhibition and cell death specifically in SS18-SSX-positive, SMARCB1-deficient synovial… (full text at CIViC)

PMID 27391784 · Kawano et al., 2016 · Open in CIViC

A t(X;18) translocation resulting in the fusion SYT-SSX (SS18-SSX1 or SS18-SSX2) is detected cytogenetically in over 90% of synovial sarcomas, regardless of histologic subtype. The prevalence of this … (full text at CIViC)

PMID 11607825 · Ladanyi, 2001 · Open in CIViC

In this review, the author summarize the role of this fusion in diagnosis of synovial sarcomas. Cytogenetic studies have repeatedly demonstrated the t(X;18)(p11;q11) translocation in approximately 90%… (full text at CIViC)

PMID 11122430 · Pfeifer et al., 2000 · Open in CIViC

A t(X;18) is detected cytogenetically in over 90% of synovial sarcomas, regardless of histologic subtype. This translocation results primarily in two fusions. SYT-SSX1 (aka SS18-SSX1) and SYT-SSX2 (ak… (full text at CIViC)

PMID 11607825 · Ladanyi, 2001 · Open in CIViC

A characteristic SYT-SSX fusion gene resulting from the chromosomal translocation t(X;18)(p11;q11) is detectable in almost all synovial sarcomas. SYT (aka SS18) pairs with various 3' partners know as … (full text at CIViC)

PMID 9428816 · Kawai et al., 1998 · Open in CIViC

Three synovial sarcomas were assayed for SYT-SSX fusion messenger RNA by nested RT-PCR. In a single case an SYT-SSX4 (SS18-SSX4) fusion was detected. The majority of synovial sarcomas are characterize… (full text at CIViC)

PMID 10359553 · Skytting et al., 1999 · Open in CIViC