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

Ishiguro, et al. (2016) presented in vitro functional study on different cell lines. The ASPSCR1-TFE3 (here referred to as ASPL-TFE3) fusion gene induction of expression resulted in cell cycle arrest … (full text at CIViC)

PMID 27673450 · Ishiguro et al., 2016 · Open in CIViC

90% out of 700 sarcoma samples (comprising 45 histologies) demonstrated loss or reduction of argininosuccinate synthetase 1 expression. Arginine auxotrophy confers sensitivity to arginine deprivation.… (full text at CIViC)

PMID 27735949 · Bean et al., 2016 · Open in CIViC

In primary soft tissue sarcoma cultures (UPS n = 25, SS n = 12), tumors with at least one mutation in apoptosis pathway genes (TP53, ATM, PIK3CB, PIK3R1, NTRK1 or CSF2RB; Mut+ n = 10, Mut− n = 27) wer… (full text at CIViC)

PMID 35406568 · Kirilin et al., 2022 · Open in CIViC

Loss of the chromatin-remodeling protein ATRX associates with ALT in cancers. Inhibition of the protein kinase ATR, a critical regulator of recombination recruited by RPA, disrupts ALT and triggers ch… (full text at CIViC)

PMID 25593184 · Flynn et al., 2015 · Open in CIViC

This study consists of a cohort of 42 pediatric and adult patients with sarcomas that were classified as undifferentiated. Six of the forty two patients had BCOR::CCNB3 fusions detected by whole trans… (full text at CIViC)

PMID 25360585 · Peters et al., 2015 · Open in CIViC

Kao, et al. (2018) presented 36 BCOR::CCNB3 sarcoma cases (86% were males; mean and median age at presentation was 15 years (range from 2 to 44 years); 78% showed mainly primitive round cells morpholo… (full text at CIViC)

PMID 29300189 · Kao et al., 2018 · Open in CIViC

BCOR expression was evaluated in a cohort of 25 small blue round cell tumors (SBRCTs) with BCOR fusions (BCOR::MAML3, BCOR::CCNB3), BCOR exon 15 ITDs, or YWHAE-NUTM2B fusion (which is known to upregul… (full text at CIViC)

PMID 27428733 · Kao et al., 2016 · 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

In a malignant peripheral nerve sheath tumor patient harboring a BRAF V600E mutation, response to vemurafenib monotherapy was reported. Upon identification of the BRAF V600E mutation, the patient was … (full text at CIViC)

PMID 24335681 · Kaplan, 2013 · Open in CIViC

In-vitro and in-vivo sensitivity to DR5 antibody conatumumab was correlated with expression of caspase-8.

PMID 26291055 · Kang 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

In a phase 2 clinical trial, NCT01209598, 30 patients with CDK4-amplified and RB-expressing well differentiated and dedifferentiated liposarcomas (WDLS/DDLS) were treated with a selective CDK 4/6 inhi… (full text at CIViC)

PMID 23569312 · Dickson et al., 2013 · Open in CIViC

A total of 59 patients with well-differentiated or dedifferentiated liposarcomas were enrolled in a phase 2 study to evaluate palbociclib efficacy. Half of the patients had received prior treatment an… (full text at CIViC)

PMID 27124835 · Dickson et al., 2016 · Open in CIViC

A preclinical study to explore the efficacy of CDK4/6 inhibition with palbociclib, in a panel of sarcoma cell lines and sarcoma tumor xenografts (PDXs). The responsiveness of these cell lines correlat… (full text at CIViC)

PMID 26528855 · Perez et al., 2015 · Open in CIViC

Analysis of the antiproliferative effects of pharmacologic CDK4/6 inhibitors provided initial evidence of this notion, as lowest CDK4- expressing Rh28 cells showed the highest sensitivity to both LEE0… (full text at CIViC)

PMID 25810375 · Olanich et al., 2015 · Open in CIViC

A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohort… (full text at CIViC)

PMID 27286459 · Murakami et al., 2016 · Open in CIViC

A preclinical study to explore the efficacy of CDK4/6 inhibition with palbociclib, in a panel of sarcoma cell lines and sarcoma tumor xenografts (PDXs). The responsiveness of these cell lines/PDX corr… (full text at CIViC)

PMID 26528855 · Perez et al., 2015 · Open in CIViC

A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohort… (full text at CIViC)

PMID 27286459 · Murakami et al., 2016 · Open in CIViC

This study consists of a cohort of 115 patients with a class of sarcomas that had similar morphology to Ewing sarcoma. The presence of a CIC rearrangement was detected in all the cases by FISH. Previo… (full text at CIViC)

PMID 28346326 · Antonescu et al., 2017 · Open in CIViC

The authors recognize that differentiating between Ewing sarcoma and CIC::DUX4 fusion associated sarcoma can be challenging due to overlapping histological and immunohistochemical phenotypes. In this… (full text at CIViC)

PMID 35151033 · Song et al., 2022 · Open in CIViC

The cohort included 44 CIC-rearranged sarcomas (CIC-RS), comprising 18 central nervous system (CNS) and 26 extra-CNS tumors. RNA sequencing (n=27) identified CIC::DUX4 (n=15), CIC::NUTM1 (n=4), CIC::L… (full text at CIViC)

PMID 39985394 · Koo et al., 2025 · Open in CIViC

In the phase II trial (NCT02992743) of letetresgene autoleucel (lete-cel) in human leukocyte antigen ((HLA)-A*02:01–, HLA-A*02:05–, and/or HLA-A*02:06–positive), NY-ESO-1 (CTAG1B)-expressing advanced … (full text at CIViC)

PMID 39836945 · D'Angelo et al., 2025 · Open in CIViC

In this retrospective circulating biomarker study, in two cohorts of osteosarcoma patients, the cytokine in blood samples was measured by Luminex assay. The cutoff values for cytokine was determined b… (full text at CIViC)

PMID 27529817 · Flores et al., 2017 · 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

To determine if EML4::NTRK3 fusions were recurrent in tumors types known to harbor ETV6::NTRK3 fusions, the authors screened 63 cases with varying diagnoses (infantile fibrosarcoma, congenital mesobla… (full text at CIViC)

PMID 29099503 · Church et al., 2018 · Open in CIViC

This case study detailed a 9-month-old male with congenital fibrosarcoma with subsequent metastasis to the lungs. The patient had a history of hemimelia in the same limb as the congenital fibrosarcoma… (full text at CIViC)

PMID 27148571 · Tannenbaum-Dvir et al., 2015 · Open in CIViC

EML6::NTRK3 fusion is seen in cases of Infantile fibrosarcoma and congenital mesoblastic nephroma. In general, these tumors more commonly harbor ETV6::NTRK3 fusions, therefore alternative NTRK3 fusion… (full text at CIViC)

PMID 29099503 · Church et al., 2018 · Open in CIViC

Case study of a 2-year-old male with a slowly enlarging mass and gradual loss of function in right hand. First considered to be a vascular malformation. Tumor involved soft tissue spaces around a… (full text at CIViC)

PMID 34464935 · Chen et al., 2021 · Open in CIViC