Sarcoma

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

A patient with a malignant spindle cell tumor of the chest wall treated as a soft tissue sarcoma was identified to harbor a KIAA1549-BRAF fusion. This patient responded to treatment with the pan-kinas… (full text at CIViC)

PMID 24422672 · Subbiah et al., 2014 · Open in CIViC

A patients with malignant spindle cell tumor treated as as soft tissue sarcoma harboring KIAA1549-BRAF fusion were treated with sorafenib in combination with bevacizumab and temsirolimus. Tumor of th… (full text at CIViC)

PMID 26314551 · Ross et al., 2016 · 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 a clinical trial including 77 patients, low expression of delta5 deletion is significantly correlated with decreased OS (p = 0.026) by multivariate analysis and with decreased RFS (p = 0.043). More… (full text at CIViC)

PMID 21978106 · Rot et al., 2011 · Open in CIViC

A mass found at birth in a patient’s left arm became enlarged at age 2 and was resected and characterized as a high-grade spindle cell sarcoma. FISH and RT-PCR did not detect any common sarcoma transl… (full text at CIViC)

PMID 30709876 · Bender et al., 2019 · Open in CIViC

One Patient with soft tissue sarcoma and a NTRK1-LMNA fusion had a partial response with larotrectinib. Treatment was done within a multicentre, open-label, phase 1/2 study and enrolled infants, child… (full text at CIViC)

PMID 29606586 · Laetsch et al., 2018 · Open in CIViC

Both RT-PCR and PCR were used to detect and confirm the presence of fusion transcripts in RNA extracted from the surgical resections of 74 liposarcomas and 98 lipomas. LPP-HMGA2 or HMGA2-LPP fusions w… (full text at CIViC)

PMID 20332486 · Kubo et al., 2010 · 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

In 41 patients with postbaseline scans, three patients with liposarcoma achieved a partial response (at 250, 400, and 500 mg), 31 showed stable disease, and eight had progressive disease. In total, 27… (full text at CIViC)

PMID 28240971 · Wagner et al., 2017 · Open in CIViC

Since significant ALK and MET expression was only detected in ARMS samples, the effect of crizotinib, an ATP competitive, MET and ALK inhibitor, was evaluated on the growth of RH4 and RH30 ARMS cell l… (full text at CIViC)

PMID 26445453 · Megiorni et al., 2015 · 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

This study evaluated forty-nine cases of rhabdomyosarcoma (RMS) (17 cases of alveolar RMS, 10 of embryonal RMS, 21 of spindle cell and sclerosing RMS, and a single case of a pleomorphic RMS) for MYOD1… (full text at CIViC)

PMID 27562493 · Rekhi et al., 2016 · Open in CIViC

This study evaluated 641 cases of rhabdomyosarcoma (RMS), enrolled on Children’s Oncology Group trials (1998-2017) and UK malignant mesenchymal tumor and RMS2005 trials (1995-2016), for mutations in 3… (full text at CIViC)

PMID 34166060 · Shern et al., 2021 · Open in CIViC

This study evaluated 641 cases of rhabdomyosarcoma (RMS), enrolled on Children’s Oncology Group trials (1998-2017) and UK malignant mesenchymal tumor and RMS2005 trials (1995-2016), for mutations in 3… (full text at CIViC)

PMID 34166060 · Shern et al., 2021 · Open in CIViC

Sporadic and Neurofibromatosis Type 1 (NF1) related refractory Malignant Peripheral Nerve Sheath Tumors (MPNST) showed no significant clinical benefit when treated with Everolimus in Combination with … (full text at CIViC)

PMID 31427883 · Widemann et al., 2019 · Open in CIViC

BRD4 inhibition supressess growth and tumorigenesis of NF1-/-, TP53-/- MPNST cells in mouse xenografts

PMID 24373973 · Patel et al., 2014 · Open in CIViC

This is the first study showing the ETV6-NTRK3 gene fusion in congenital fibrosarcoma (CFS). Using cytogenetic and FISH analyses, a novel t(12;15)(p13;q25) rearrangement was identified in CFS cases (3… (full text at CIViC)

PMID 9462753 · Knezevich et al., 1998 · Open in CIViC

The majority of MPNST samples were positive for PARP staining. Overall, moderate to high expression of PARP1 and PARP2 was observed (Table 1)....Overall, treatment continued for 60 d at which point 5 … (full text at CIViC)

PMID 26650448 · Kivlin et al., 2016 · Open in CIViC

Study of combination of trabectedin + olaparib in sarcoma cell lines and xenograft models. Initial results found combination therapy significantly reduced colony growth (p<0.001) in high-PARP1-expres… (full text at CIViC)

PMID 28454547 · Pignochino et al., 2017 · Open in CIViC

In a cohort of 171 pediatric rhabdomyosarcoma patients, the PAX3::FOXO1 fusion transcript was detected in 55% of patients with centrally reviewed ARMS. Critically, this fusion, along with the related … (full text at CIViC)

PMID 12039929 · Sorensen et al., 2002 · Open in CIViC

In this study, a total of 147 rhabdomyosarcomas/normal pairs were analyzed, 44 by whole genome sequencing and 103 tumors by whole exome sequencing. 50 cases classified as alveolar rhabdomyosarcoma his… (full text at CIViC)

PMID 24436047 · Shern et al., 2014 · Open in CIViC

In a cohort of 171 uniformly treated pediatric rhabdomyosarcoma (RMS) patients, 78 patients had alveolar rhabdomyosarcoma (ARMS). Of ARMS patients, 55% harbored a PAX3-FOXO1 fusion, 22% harbored a PAX… (full text at CIViC)

PMID 12039929 · Sorensen et al., 2002 · Open in CIViC

In this study, a total of 147 rhabdomyosarcomas/normal pairs were analyzed, 44 by whole genome sequencing and 103 tumors by whole exome sequencing. 50 cases classified as alveolar rhabdomyosarcoma his… (full text at CIViC)

PMID 24436047 · Shern et al., 2014 · Open in CIViC

One Patient with soft tissue sarcoma and a NTRK1-PDE4DIP fusion was treated with larotrectinib and exhibited a partial response. Treatment was done within a multicentre, open-label, phase 1/2 study an… (full text at CIViC)

PMID 29606586 · Laetsch et al., 2018 · Open in CIViC

In a pediatric phase 1 trial (NCT02637687), a boy aged 15 months with soft tissue sarcoma of the right upper thigh harbored the PDE4DIP-NTRK1 fusion. After resection and the failure of initial chemoth… (full text at CIViC)

PMID 30204247 · DuBois et al., 2018 · Open in CIViC

A high-throughput screen of 637 cancer cell lines revealed 2 to be sensitive to the multiple tyrosine kinase inhibitor, sunitinib. The most highly sensitive line was A-204, a rhabdomyosarcoma cell lin… (full text at CIViC)

PMID 19366796 · McDermott et al., 2009 · 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

A cohort of angiosarcomas (n=36) was sequenced and revealed to contain recurrent mutations in PTPRB (10/36) which were predominantly truncating or splice variants which impact the tyrosine phosphotase… (full text at CIViC)

PMID 24633157 · Behjati et al., 2014 · Open in CIViC

The endothelial phosphatase PTPRB, a negative regulator of vascular growth factor tyrosine kinases, harbored truncating mutations in 10 of 39 angiosarcomas (26%) which correlated with MYC amplificatio… (full text at CIViC)

PMID 24633157 · Behjati et al., 2014 · Open in CIViC

An analysis of 8 ewing sarcoma patients revealed PTPRD mutations in 3 cases (V253I/W775*, T781A, R995C). 2 of 3 cases showed complete response (RECIST criteria) to IGF1R mAb based therapies. The R995C… (full text at CIViC)

PMID 23800680 · Jiang et al., 2013 · Open in CIViC

An analysis of 8 ewing sarcoma patients revealed PTPRD mutations in 3 cases (V253I/W775*, T781A, R995C). 2 of 3 cases showed complete response (RECIST criteria) to IGF1R mAb based therapies. The thrid… (full text at CIViC)

PMID 23800680 · Jiang et al., 2013 · Open in CIViC

Report of complete response to IGF1-R antibody, with or without mTOR inhibitor tensirolimus in 2/3 Ewing Sarcoma patients with germline PTPRD mutations (V253I and W775*, R995C). The third patient had … (full text at CIViC)

PMID 23800680 · Jiang et al., 2013 · Open in CIViC