Neoplasm by Special Category

To investigate the specific role of ACVR1 mutations in the context of DIPG, a panel of four DIPG patient-derived primary cultures (and one thalamic paediatric GBM culture harbouring an H3F3A K27M muta… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

Using mouse models, the authors demonstrated that Acvr1G328V arrested the differentiation of oligodendroglial lineage cells to generate high-grade diffuse gliomas. Using a cellular NanoBRET target eng… (full text at CIViC)

PMID 32142668 · Fortin et al., 2020 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

This mutation is found to be present in about 33% of diffuse intrinsic pontine glioma along with 6 other recurrent heterozygous somatic non-synonymous mis-sense mutations in ACVR1. There lacks evidenc… (full text at CIViC)

PMID 26776312 · Pacifici et al., 2016 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

The authors used whole exome sequencing on 39 midline pediatric high-grade astrocytomas (pHGAs) and identified 5 with mutations in ACVR1, with 2 occurring at G328 (G328V and G328E). The authors state … (full text at CIViC)

PMID 24705250 · Fontebasso et al., 2014 · Open in CIViC

Sequencing of 39 pediatric midline high-grade astrocytomas identified 5 patients with ACVR1 mutations. The authors identified an increase in endogenous phospho-SMAD1/5/8 signal in diffuse intrinsic po… (full text at CIViC)

PMID 24705250 · Fontebasso et al., 2014 · Open in CIViC

Analysis of 127 paediatric high grade gliomas (HGGs) identified recurrent mutations in ACVR1 exclusively in DIPG. ACVR1 mutations were found in 18 of 57 DIPG tumours (32%) and none of 70 non-brainstem… (full text at CIViC)

PMID 24705251 · Wu et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

SFPQ-ABL1fusion was identified in Ph-like ALL

PMID 31935290 · Harvey et al., 2020 · Open in CIViC

patients with Ph-like ALL had an inferior 5-year event-free survival compared with patients with non–Ph-like ALL (22.5% [95% CI, 14.9% to 29.3%; n = 155] v 49.3% [95% CI, 42.8% to 56.2%; n = 247], res… (full text at CIViC)

PMID 27870571 · Roberts et al., 2017 · Open in CIViC

To identify novel molecular mechanism(s) of resistance, we generated PLX4032-resistant cell lines by chronic exposure of the BRAF (V600E)-positive parental melanoma cell line Mel-CV to PLX4032. After … (full text at CIViC)

PMID 24201813 · Hu et al., 2013 · Open in CIViC

fusions. IC50 values were measured following treatment with entrectinib: TPM3-NTRK1 (2.5nM), LMNA-NTRK1 (1.4nM), ETV6-NTRK1 (2.5nM), VCL-NTRK2 (4.3nM), AFAP1-NTRK2 (2.7nM), ETV6-NTRK2 (4.5nM), ETV6-NT… (full text at CIViC)

PMID 26884591 · Drilon et al., 2016 · Open in CIViC

A 42 year old male patient with stage III cutaneous melanoma harboring an AGAP3::BRAF fusion was treated with the MEK inhibitor trametinib after prior pembrolizumab and experienced a response lasting … (full text at CIViC)

PMID 35871080 · Moran et al., 2022 · Open in CIViC

In frame AGGF1:PDGFRb (exons 1-10 and exons 11-23) containing the PDGFRb tyrosine kinase domain, with no additional mutations, was observed in a 4 year old patient with T-ALL, found by RNAseq and conf… (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

A 4 yr old boy presented with a history of 1 week with fatigue, weakness, fever and vomiting. Physical examination showed prominent hepatosplenomegaly and white blood cell count of 622.8x109/L with … (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

A 4 yr old boy was diagnosed with precursor B-cell ALL. Patient had normal karyotype. The patient was refractory to prolonged induction therapy. Presence of PDGFRB rearrangement was indicated by F… (full text at CIViC)

PMID 29434033 · Zhang et al., 2018 · Open in CIViC

A 4 yr old boy with AGGF1::PDGFRB Fusion, and Ph-Like B-ALL was refractory to chemotherapy and did not respond to induction therapy. The patient was given imatinib, and within 8 weeks leukemia clearan… (full text at CIViC)

PMID 29434033 · Zhang et al., 2018 · Open in CIViC

Ba/F3 cells with AGGF1:PDGFRb showed IL3 independent growth. Patient derived cells and Ba/F3, both with AGGF1:PDGFRb, were treated with erlotinib, gefitinib, ibrutinib, and vandetanib. IC50 for inhibi… (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

Primary mononuclear cells from a 4 year old patient with AGGF1:PDGFRb were treated with PDGFRb inhibitors, which resulted in cell death. IC50 for reduction in cell viability were approximately Ponatin…

A 4 year old boy with normal karyotype relapsed, refractory B-cell ALL had initial but not sustained response to TKIs including imatinib, dasatinib and nilotinib, followed by a bone marrow transplant.… (full text at CIViC)

PMID 29434033 · Zhang et al., 2018 · Open in CIViC

A patient with metastatic melanoma of unknown primary harboring an AGK-BRAF fusion with an intact BRAF kinase domain received belvarafenib 450 mg twice daily after progression on pembrolizumab, dacarb… (full text at CIViC)

PMID 38470950 · Kim et al., 2024 · Open in CIViC

BRAF fusion AGK-BRAF was associated with decreased sensitivity to vemurafenib and increased sensitivity to sorafenib in-vitro. A single patient with this fusion showed durable response to sorafenib.

PMID 23890088 · Botton et al., 2013 · Open in CIViC

mRNA expression of AGR2 in 61 patients with tamoxifen treated postmenopausal breast cancer was determined by qRT-PCR and was inversely associated with treatment response and progression free survival … (full text at CIViC)

PMID 24167368 · Hrstka et al., 2013 · Open in CIViC

In a clinical study including 165 patients, high ratio AIMP2-DX2/AIMP2 is significantly associated with decreased OS by a multivariate analysis (p = 0.018)

PMID 28638448 · Jung et al., 2017 · Open in CIViC

The AKAP9-BRAF fusion gene was found in 3/28 tumor samples of radiation-associated papillary thyroid carcinoma, and no samples of non-radiation associated papillary thyroid carcinoma. This fusion was … (full text at CIViC)

PMID 15630448 · Ciampi et al., 2005 · Open in CIViC

Phase 2 trial of capivasertib in AKT1/2/3 activated solid cancer patients. One pre-treated AKT1 D323G-mutant breast cancer patient with ER-positive HER2-negative mixed ductal and lobular carcinoma had… (full text at CIViC)

PMID 35440569 · Shrestha Bhattarai et al., 2022 · Open in CIViC

Breast cancer cell lines with the AKT1 E17K mutation did not show sensitivity to AKT inhibitor MK-2206, unlike cell lines with PIK3CA mutations.

PMID 23888070 · Beaver et al., 2013 · Open in CIViC

AKT1 E17K mutations are oncogenic and occur in many cancers at a low prevalence. We performed a multihistology basket study of AZD5363. 58 patients with advanced solid tumors were treated. In patients… (full text at CIViC)

PMID 28489509 · Hyman et al., 2017 · Open in CIViC

A melanoma cell line (M262) with AKT E17K mutation was found to be sensitive to AKT inhibition with GSK2141795B in this study.

PMID 24735930 · Lassen et al., 2014 · Open in CIViC

A BRAF V600E-positive melanoma cell line (M262) with AKT E17K mutation was found to have a similar level of sensitivity to combination dabrafenib plus AKT inhibitor GSK2141795B (IC50 < 1nM) as to dabr… (full text at CIViC)

PMID 24735930 · Lassen et al., 2014 · Open in CIViC

Expression of AKT1 F55Y in MCF10a and Ba/F3 cells induced p-AKT in Ba/F3 and p-S6, and p-PRAS40 in both cell lines. Treatment with AKT inhibitors capivasertib and ARQ092 decreased cell vaibility and s… (full text at CIViC)

PMID 35440569 · Shrestha Bhattarai et al., 2022 · Open in CIViC

Phase II trial of AKT-inhibitor capivasertib in patients with solid tumors and AKT1/2/3 alterations. One patient with an AKT1 L52R mutant endometrioid cancer achieved partial response that lasted for … (full text at CIViC)

PMID 35440569 · Shrestha Bhattarai et al., 2022 · Open in CIViC

An in vitro study of M229 (a human melanoma cell line) endogenously expressing wild-type AKT1 and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that cells induced to stably over-expre… (full text at CIViC)

PMID 24265155 · Shi et al., 2014 · Open in CIViC

Preclinical study. Expression of AKT1 P68-C77dup in MCF10a cells led to hyper-phosphorylation of AKT1 and growth-factor independent pathway activation. Survival and viability were decreased with AKT … (full text at CIViC)

PMID 35440569 · Shrestha Bhattarai et al., 2022 · Open in CIViC

In a retrospective study of 44 relapsed melanoma patients with BRAF V600E/K (known BRAF inhibitor sensitizing mutations), AKT1 Q79K was associated with acquired resistance to BRAF inhibitor (dabrafeni… (full text at CIViC)

PMID 24265155 · Shi et al., 2014 · Open in CIViC

The AKT1 Q79K mutation has been shown to confer resistance to BRAF inhibitors (vemurafenib) in melanoma cell line M229.

PMID 24265152 · Shi et al., 2014 · Open in CIViC