Neoplasm by Site

In a study sequencing 61 patients (median age 6.3) with diffuse intrinsic pontine glioma (DIPG), 12 variants affecting ACVR1 were observed. Five patients had G328V within the kinase domain. The ACVR1 … (full text at CIViC)

PMID 24705254 · Buczkowicz 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

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

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

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

In a phase-I study of AZD5363, partial response was observed in 2 patients with breast and ovarian carcinoma, respectively, and AKT1 E17K mutations. While full study results have not yet been publishe… (full text at CIViC)

PMID 26351323 · Davies et al., 2015 · 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

This retrospective study examines outcomes of 158 primary sporadic colorectal cancer patients who had undergone surgical resection and were treated with 5-fluorouracil based chemotherapy. Cytoplasmic … (full text at CIViC)

PMID 17590872 · Kato et al., 2007 · Open in CIViC

Case report of a 74-year old woman with EGFR- and ALK-negative lung adenocarcinoma. FISH identified a deletion of 5'RET (FISH, indicating RET-gene rearrangement) and genomic testing confirmed a fusion… (full text at CIViC)

PMID 25982012 · Subbiah et al., 2015 · Open in CIViC

In HER2+ metastatic breast cancer treated with trastuzumab (n = 74 patients), the expression of AKT2 and pAkt-Thr308 and/or pAkt-Ser473 localized in nucleus+cytoplasm was associated with an improved t… (full text at CIViC)

PMID 22842582 · Grell et al., 2012 · Open in CIViC

Phase 2 trial of capivasertib in solid cancer patients with AKT1/2/3 alterations. One patient with metastatic prostate cancer and in-frame AKT2 L78_Q79ins(HANTFVIRCL) that previously progressed on enz… (full text at CIViC)

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

Upregulation of AKT3 due to epigenetic reprogramming may confer acquired resistance to AKT inhibitor (MK2206) in breast cancer preclinical model.

PMID 27297869 · Stottrup et al., 2016 · Open in CIViC

Overexpression of AKT3 in lumenal breast cancer cell line SKBR3, which does not express the AKT3 isoform, induced a statistically significant 2.7 fold increase in IC50 for pan-AKT inhibitor GSK690693.… (full text at CIViC)

PMID 24335962 · Chin et al., 2014 · Open in CIViC

112 patients with rectal cancer who received 5-FU based chemotherapy and surgery were retrospectively analyzed for expression of Ki67, TS, BAX, EpCAM, p53, p21, EGFR, CD44, CD133, CD166, HIF1α and ALD… (full text at CIViC)

PMID 24708484 · Sim et al., 2014 · Open in CIViC

IHC for expression of ALDH1A2 and CRABP2 was performed in 89 patients with squamous cell carcinoma of the head and neck. High expression of both, ALDH1A2 and CRABP2 (in comparison to ALDH1A2 low or AL… (full text at CIViC)

PMID 26634247 · Seidensaal et al., 2015 · Open in CIViC

ALDH1A2 protein levels were determined (IHC) in 115 patients with oropharyngeal squamous cell carcinoma with known HPV status (n = 89 non–HPV-driven; n = 26 HPV-driven). Low to moderate ALDH1A2 protei… (full text at CIViC)

PMID 23635773 · Kostareli et al., 2013 · Open in CIViC

FaDu (a high ALDH1A2 expression cell line) and Cal27 (a low expression cell line) were treated with all-trans retinoic acid (ATRA), Adapalene or Fenretinide. This led to concentration dependent decrea… (full text at CIViC)

PMID 26634247 · Seidensaal et al., 2015 · Open in CIViC

Expression of an alternative ALK transcript (ATI), encompassing exons 20–29 preceded by ~400 base pairs (bp) of intron 19, but not exons 1–19 was identified in three samples of thyroid cancer and mela… (full text at CIViC)

PMID 26444240 · Wiesner et al., 2015 · Open in CIViC