Soft Tissue Neoplasm

Among pediatric fibroblastic and myofibroblastic proliferating superficial lesions, lipofibromatosis (LPF), composed of an admixture of adipose tissue and fibroblastic elements, has been variously cla… (full text at CIViC)

PMID 27259011 · Agaram et al., 2016 · 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

This study identified a recurrent MALAT1::GLI1 fusion in 4 of 4 (100%) gastroblastomas from patients ranging in age from 9 to 56 years old. Initially, the fusion was identified using transcriptome seq… (full text at CIViC)

PMID 37165307 · Hamada et al., 2023 · Open in CIViC

In this 2017 study the authors included four cases of gastroblastoma with control cases of histologic mimics. Gastroblastoma patients were aged 9, 27, 28 and 56 years. RNASeq identified a MALAT1::GLI1… (full text at CIViC)

PMID 28731043 · Graham et al., 2017 · 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

A 58-year-old male with NTRK-fusion positive gastrointestinal stromal tumour (GIST) demonstrated initial response to Larotrectinib but progressed after developing a gatekeeper mutation (TRKC F617L).

PMID 30624546 · Hong et al., 2019 · Open in CIViC

An 18-month-old female patient presented with a history of an enlarging, subcutaneous mass in her right lower extremity since birth. A biopsy was performed and the findings were typical of Dermatofibr… (full text at CIViC)

PMID 15503291 · Price et al., 2005 · Open in CIViC

In this retrospective study, two patients with locally advanced Dermatofibrosarcoma Protuberans (DFSP) and two patients with recurrent DFSP received imatinib treatment prior to undergoing Mohs surgery… (full text at CIViC)

PMID 19620561 · Han et al., 2009 · Open in CIViC

In CHO cells with PDGFRA D842I mutation that have shown imatinib resistance, crenolanib was significantly more potent at inhibiting kinase activity than imatinib.

PMID 22745105 · Heinrich et al., 2012 · Open in CIViC

In CHO cells with PDGFRA DI842-843VM mutation that have shown imatinib resistance, crenolanib was significantly more potent at inhibiting kinase activity than imatinib.

PMID 22745105 · Heinrich et al., 2012 · Open in CIViC

In an in vitro study, Ba/F3 cells expressing PDGFRA D842_M844delDIM mutation were associated withsensitivity to dasatinib treatment.(IC50: 10nM). Sensitivity was determined by assessing cell prolifera… (full text at CIViC)

PMID 18794084 · Dewaele et al., 2008 · Open in CIViC

GIST tumors harboring PDGFRA D842V mutation are more likely to be benign than malignant.

PMID 15146165 · Lasota et al., 2004 · Open in CIViC

In a phase 2 trial, patients with gastrointestinal stromal tumor (GIST) harboring with PDGFRA D842V or other exon 18 mutation were treated with Avapritinib which have broad activity against oncogenic … (full text at CIViC)

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In CHO cells with PDGFRA D842V mutation that have shown imatinib resistance, crenolanib was significantly more potent at inhibiting kinase activity than imatinib.

In CHO cells with PDGFRA D842Y mutation that have shown imatinib resistance, crenolanib was significantly more potent at inhibiting kinase activity than imatinib.

PMID 22745105 · Heinrich et al., 2012 · Open in CIViC

In phase I NAVIGATOR trial (NCT02508532) took part 43 patients with GIST harboring a PDGFRA exon 18 mutation, including 38 patients with PDGFRA D842V mutation.For patients harboring a PDGFRA exon 18 … (full text at CIViC)

PMID 30274985 · Gebreyohannes et al., 2019 · Open in CIViC

These four patients were part of a larger cohort of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positive Gastrointestinal stromal tumors (GISTs) enrolled in the North American … (full text at CIViC)

PMID 18955451 · Heinrich et al., 2008 · Open in CIViC

In CHO cells with the PDGFRA deletion I843 mutation that have shown imatinib sensitivity, crenolanib showed no significant difference from imatinib in kinase activity inhibition.

PMID 22745105 · Heinrich et al., 2012 · Open in CIViC

15/127 patients with KIT-WT metastatic gastrointestinal stromal tumors were tested for PDGFRA mutations. 6 GISTs harbored PDGFRA mutations. 1 patient had a deletion of I843. CHO cells expressing this … (full text at CIViC)

PMID 14645423 · Heinrich et al., 2003 · Open in CIViC

In a retrospective study of 23 Taiwanese gastrointestinal stromal tumor patients, a patient with PDGFRA exon 18 mutation (n=1/21) was associated with partial response to sunitinib treatment.

PMID 21547131 · Chen et al., 2011 · Open in CIViC

In this retrospective survey among referral centers and collaborative groups with experience in conducting clinical studies in sarcoma and/or GISTs in Europe, 58 patients were included with advanced P… (full text at CIViC)

PMID 22718859 · Cassier et al., 2012 · Open in CIViC

This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) examined the relationship between kinase (KIT and PDGFRA) genotype and treatment outcome for patients enr… (full text at CIViC)

PMID 14645423 · Heinrich et al., 2003 · Open in CIViC

293T cells stably transduced with PDGFRA V561A showed constitutive tyrosine phosphorylation in the absense of ligand; however, when treated with imatinib, this phosphorylation was inhibited similarly … (full text at CIViC)

PMID 12949711 · Hirota et al., 2003 · Open in CIViC

This case study examines one patient from a larger cohort of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positive Gastrointestinal stromal tumors (GISTs) enrolled in the North … (full text at CIViC)

PMID 18955451 · Heinrich et al., 2008 · Open in CIViC

In a gastrointestinal stromal tumor patient harboring PDGFRA W559_R560delWR in-frame deletion mutation, PDGFRA W559_R560delWR was reported to be sensitive to sunitinib treatment. The patient was treat… (full text at CIViC)

PMID 26396737 · Brohl et al., 2015 · Open in CIViC

A 37-year-old man presented with dermatofibrosarcoma protuberans (DFSP). Post resection, multiple nodular metastases were found in both lungs and the disease progressed following treatments with cytot… (full text at CIViC)

PMID 29760553 · Xiao et al., 2018 · 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

ALK-rearrangements are seen in 50% of inflammatory myofibroblastic tumor (IMT) cases. A 44 year old man was diagnosed with IMT. He was treated with surgery and catheter placement for administration o… (full text at CIViC)

PMID 20979472 · Butrynski et al., 2010 · Open in CIViC

In an in vitro study, a TT cell line expressing RET C634W mutation demonstrated increased sensitivity to regorafenib treatment (IC50: 34nM vs. 560-3269nM) compared to HepG2, SW620, Colo-205 or A375 ce… (full text at CIViC)

PMID 21170960 · Wilhelm et al., 2011 · Open in CIViC

In this study, the authors analyzed two index cases of pseudomyogenic haemangioendothelioma and 10 additional cases by interphase FISH. Both index cases showed a balanced t(7;19)(q22;q13) translocatio… (full text at CIViC)

PMID 24374978 · Walther et al., 2014 · 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