Connective and Soft Tissue Neoplasm

Patients 29 and 66 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) PDGFRA D… (full text at CIViC)

PMID 18955458 · Heinrich et al., 2008 · Open in CIViC

In an in vitro study, Ba/F3 cells expressing PDGFRA D842V mutation (overexpression) demonstrated resistance to sunitinib treatment. Sensitivity was determined by assessing PDGFRA auto-phosphorylation … (full text at CIViC)

PMID 16638875 · Prenen et al., 2006 · Open in CIViC

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

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

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

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

144 cases (discovery set: N=62 discovery; independent validation set: N = 82) of meningiomas were analyzed for transcriptional features defining aggressive clinical course (recurrent, malignantly prog… (full text at CIViC)

PMID 26894859 · Schmidt et al., 2016 · Open in CIViC

Case report of a 27-year old female patient with spindle cell sarcoma. Initial treatment consisted of eight cycles of alternating vincristine-doxorubicin-cyclophosphamide and ifosfamide-etoposide plus… (full text at CIViC)

PMID 35050712 · Panet et al., 2022 · Open in CIViC

Western blot analyses were performed for HR23b (RAD23B) expression sarcoma cell lines after treatment with vorinostat, belinostat, mocetinostat and entinostat. All HDACi were able to regulate prolifer… (full text at CIViC)

PMID 27499916 · Angelika Ihle et al., 2016 · Open in CIViC

Using next-generation DNA and RNA sequencing, three cases harboring NTRK fusions were identified in a cohort of 113 osteosarcomas, including primary tumors and metastases. All three cases exhibited hi… (full text at CIViC)

PMID 32022484 · Ameline et al., 2020 · 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

The study investigated the sensitivity of RB1-mutant osteosarcoma cell lines to PARPi. It found that cell viability, measured by AUC values after 5 days, was significantly lower in RB1-defective cell … (full text at CIViC)

PMID 34862364 · Zoumpoulidou et al., 2021 · Open in CIViC

We describe a novel RBPMS-MET driver fusion in association with a locally aggressive IFS-like tumor. MET functions as an oncogene and, when associated with the RNA binding protein RBPMS, forms an in-f… (full text at CIViC)

PMID 33028644 · Gupta et al., 2020 · 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

SLFN11 is an ETS transcription factor response gene and a predictive marker for therapeutic response to topoisomerase I inhibitors and temozolomide-PARP inhibitor combinations in ETS-activated cancers… (full text at CIViC)

PMID 25779942 · Tang et al., 2015 · 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)

Open in CIViC

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

Boetto et al used Sanger sequencing to query SMO mutations (W535L and L412F) in 79 confirmed olfactory groove meningiomas and identified 1 patient with W535L (and 21 with L412F).

PMID 28082415 · Boetto et al., 2017 · Open in CIViC

Brastianos et al identified SMO W535L in 2 tumors from a set of 65 meningiomas, notably in meningiomas lacking NF2 alterations and of the meningiothelial subtype. The variants displayed high somatic v… (full text at CIViC)

PMID 23334667 · Brastianos et al., 2013 · Open in CIViC

One patient with infantile fibrosarcoma and a NTRK1-SQSTM1 fusion was treated with larotrectinib and exhibited a partial response. Treatment was done within a multicentre, open-label, phase 1/2 study … (full text at CIViC)

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

In a pediatric phase 1 trial (NCT02637687), a 2 year old with infantile fibrosarcoma of the shoulder harbored the SQSTM1-NTRK1 fusion. After two surgical resections and multiple rounds of chemotherapy… (full text at CIViC)

PMID 30204247 · DuBois et al., 2018 · 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