Neoplasm by Morphology

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

Eight ALK2 inhibitors were tested against 3 ACVR1 mutant cell cultures and two wild type cultures. LDN-193189 was the most potent compound with minimal selectivity for the mutant cells. LDN-214117 was… (full text at CIViC)

PMID 31098401 · Carvalho et al., 2019 · 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

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

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

In an in vitro study, a M229 cell line endogenously expressing BRAF V600E mutation (a known vemurafenib sensitizing mutation) and overexpressing AKT1 E17K mutation was associated with resistance to ve… (full text at CIViC)

PMID 24265155 · Shi et al., 2014 · 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

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

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

In an in vitro study, a M229 cell line endogenously expressing BRAF V600E mutation (a known vemurafenib sensitizing mutation) and overexpressing AKT1 Q79K mutation was associated with resistance to ve…

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

An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype AKT3 and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that cells virally induced to stably ove… (full text at CIViC)

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

AKT3 was found to be preferentially required for the proliferation and tumor growth of TNBC. It was found to be upregulated in a set of TNBC cell lines compared to other breast cancer types. Depletion… (full text at CIViC)

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

An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype AKT3 and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that cells induced to stably over-expres… (full text at CIViC)

PMID 24265155 · Shi 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

Melanoma cell lines and xenografts expressing the ALK ATI variant did not respond to treatment with ALK inhibitors, while fusion ALK expressing cell lines and xenografts were sensitive.

PMID 29054983 · Couts et al., 2018 · Open in CIViC

A 28 year-old patient with non-small cell lung cancer was found to harbor the EML4-ALK fusion using reverse transcription PCR. Treatment with 250mg crizotinib twice daily resulted in rapid improvement… (full text at CIViC)

PMID 20979473 · Choi et al., 2010 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing EML4-ALK fusion (a known sensitizing alteration to crizotinib) and an ALK C1156Y co-mutation demonstrated resistance to crizotinib treatment compared… (full text at CIViC)

PMID 20979473 · Choi et al., 2010 · Open in CIViC

Two patients with IDH wild-type, MGMT promoter unmethylated glioblastoma were treated with crizotinib. Patient 1 had weak expression of ALK in 25% of tumor tissue and polysomy of ALK in 53% of nuclei;… (full text at CIViC)

PMID 26498130 · Le Rhun et al., 2015 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing EML4-ALK fusion (a known sensitizing alteration to crizotinib) and an ALK F1174C co-mutation, demonstrated resistance to crizotinib treatment compare… (full text at CIViC)

PMID 24675041 · Friboulet et al., 2014 · Open in CIViC

In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK F1174L co-mutation, demonstrated resistance to ceritinib treatment (IC50: 140.45 … (full text at CIViC)

PMID 27009859 · Amin et al., 2016 · Open in CIViC

In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK F1174L co-mutation, demonstrated resistance to crizotinib treatment (IC50: 347.63… (full text at CIViC)

PMID 27009859 · Amin et al., 2016 · Open in CIViC

In a patient with RANBP2::ALK-positive inflammatory myofibroblastic tumor, acquisition of the ALK F1174L mutation following crizotinib treatment was associated with acquired resistance. Ba/F3 studies … (full text at CIViC)

PMID 21030459 · Sasaki et al., 2010 · Open in CIViC

In a phase 2 study (NCT0093245), a stage IV non-small cell lung cancer patient with acquired crizotinib resistance harbored an EML4-ALK gene rearrangement (a known sensitizing alteration to crizotinib… (full text at CIViC)

PMID 24736079 · Ignatius Ou et al., 2014 · Open in CIViC

A patient with ALK-rearranged lung adenocarcinoma responded to crizotinib treatment and then had relapse. Biopsy was taken within half a month and total DNA was extracted from the sample. Exons 20-28,… (full text at CIViC)

PMID 22277784 · Katayama et al., 2012 · Open in CIViC