Head and Neck Neoplasm

In this study, using genome sequencing the authors identified a t(4;9)(q13;q31) in six acinic cell carcinoma cases (AciCCs). The 4q13 breakpoints were at the secretory Ca-binding phosphoprotein (SCPP… (full text at CIViC)

PMID 30664630 · Haller et al., 2019 · Open in CIViC

From 31 patients with advanced cutaneous squamous cell carcinomas evaluated for mutations in RAS, BRAF, and EGFR genes, only 2 RAS mutated samples (6.5%) were identified. Patients with NRAS p.G12D (c.… (full text at CIViC)

PMID 28259104 · Picard et al., 2017 · Open in CIViC

In patients with follicular thyroid carcinoma, those with mutations in NRAS at codon 61 did not have significantly different overall survival than patients with wild-type NRAS (p=0.36).

PMID 22650231 · Fukahori et al., 2012 · Open in CIViC

Follicular thyroid cancers harboring RAS mutations have limited aggressiveness in the absence of TERT mutations. 2/2 follicular thyroid cancer patients with co-mutations in NRAS (10 Q61R and 1 Q61K) o… (full text at CIViC)

PMID 25448848 · Muzza et al., 2015 · Open in CIViC

In an in vitro study, a HTH7 cell line expressing NRAS Q61R demonstrated reduced sensitivity to vemurafenib treatment, compared to BRAF V600E expressing cells (8505C, SWI1736, BHT101 and BCPAP). Sensi… (full text at CIViC)

PMID 19880792 · Salerno et al., 2010 · Open in CIViC

In non-HER2 amplified cell lines, sensitivity to HER2 kinase inhibitor lapatinib was found mainly in cell-lines with elevated NRG1 expression and HER3 activation. This aberration was mainly identified… (full text at CIViC)

PMID 21840482 · Wilson et al., 2011 · Open in CIViC

PAX8–PPARG gene fusions were found in 12/33 follicular thyroid carcinoma tumor samples, but were rarely found in thyroid Hürthle cell tumors.

PMID 12727991 · Nikiforova et al., 2003 · Open in CIViC

PD-L2 was detected in the absence of PD-L1 in some tumor types. Both PD-L1 and PD-L2 positivity significantly predicted clinical response to pembrolizumab on combined tumor, stromal and immune cells, … (full text at CIViC)

PMID 28619999 · Yearley et al., 2017 · Open in CIViC

In this retrospective study, the impact of nonsteroidal anti-inflammatory drugs (NSAID) on survival in PIK3CA-altered HNSCC patients (N=266) was assessed. 37 of 266 (14%) patients harbored a mutation,… (full text at CIViC)

PMID 30683736 · Hedberg et al., 2019 · Open in CIViC

The HNSCC cell line LB771 with PIK3CA amplification was shown to have low antiproliferative IC50 for the p110beta-sparing PI3K inhibitor taselisib. Under increasing taselisib concentrations, reduction… (full text at CIViC)

PMID 26589432 · Zumsteg et al., 2016 · Open in CIViC

Whole-exome sequencing of 151 HNSCC tumours found a high frequency of mutations in PI3K pathway genes. Four novel mutation were found, including PIK3CA p.C971R. Stable transformation of HNSCC cell lin… (full text at CIViC)

PMID 23619167 · Lui et al., 2013 · Open in CIViC

Phase 1 study with the dual PI3K/mTOR inhibitor apitolisib. 120 patients were treated at doses between 2 and 70mg. Of the 14 evaluable patients with PIK3CA mutations total, there were 3 PRs (1 confirm… (full text at CIViC)

PMID 26787751 · Dolly et al., 2016 · Open in CIViC

Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathway were more sensitive to Akt inhibitor perifosine or MTOR inhibitor temsirolimus than 5 cell lines w… (full text at CIViC)

PMID 19706758 · Liu et al., 2009 · Open in CIViC

Whole-exome sequencing of 151 HNSCC tumours found a high frequency of mutations in PI3K pathway genes. Four novel mutation were found, including PIK3CA p.G363A. Stable transformation of HNSCC cell lin… (full text at CIViC)

PMID 23619167 · Lui et al., 2013 · Open in CIViC

In a panel of head and neck cancer cell lines, 2 lines containing the PIK3CA mutation H1047R (Detroit562 and SNU-1076) were more sensitive to growth inhibition (IC50 1.10 and 6.82) by the PI3Kalpha sp… (full text at CIViC)

PMID 25550549 · Keam et al., 2015 · Open in CIViC

Xenografts from one head and neck cancer cell line (CAL-33) with a PIK3CA H1047R mutation were more sensitive to the combined inhibition of PI3K/mTOR and EGFR with BEZ-235 and cetuximab (N=9) than cet… (full text at CIViC)

PMID 23619167 · Lui et al., 2013 · Open in CIViC

In thyroid cancer cell lines, MK2206 selectively inhibited the proliferation of cells harboring PI3K/Akt pathway activating mutations (PIK3CA, PTEN, RAS or RET/PTC) with IC50 values mostly below or ar… (full text at CIViC)

PMID 21289267 · Liu et al., 2011 · Open in CIViC

In this retrospective study, the impact of nonsteroidal anti-inflammatory drugs (NSAID) on survival in PIK3CA-altered HNSCC patients (N=266) was assessed. 37 of 266 (14%) patients harbored a mutation,… (full text at CIViC)

PMID 30683736 · Hedberg et al., 2019 · Open in CIViC

Whole-exome sequencing of 151 HNSCC tumours found a high frequency of mutations in PI3K pathway genes. Four novel mutation were found, including PIK3CA p.R975S. Stable transformation of HNSCC cell lin… (full text at CIViC)

PMID 23619167 · Lui et al., 2013 · Open in CIViC

Analysis of drug response data from the Sanger center cell line screen. Cell lines with either PI3K and/or PTEN mutations did not show a significant difference in response to the class I PI3K inhibito… (full text at CIViC)

PMID 25855885 · Wirtz et al., 2015 · Open in CIViC

In a panel of 26 HNSCC cell lines tested for sensitivity to taselisib (an alpha, delta and gamma isoform-specific PI3K inhibitor) the UD-SCC-2 cell line with homozygous PTEN deletion had considerably … (full text at CIViC)

PMID 26589432 · Zumsteg et al., 2016 · Open in CIViC

Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathway were more sensitive to Akt inhibitor perifosine or MTOR inhibitor temsirolimus than 5 cell lines w… (full text at CIViC)

PMID 19706758 · Liu et al., 2009 · Open in CIViC

Study explored the expression of the PTPN11 protein (SHP2) and found that expression was increased in a cohort of 112 laryngeal cancer samples. Expression was also associated with poor survival (p=.02… (full text at CIViC)

PMID 24297342 · Gu et al., 2014 · Open in CIViC

In this preclinical study, loss-of-function of PTPRD was mainly caused by mutation in head and neck cancer, as identified in TCGA data. PTPRD mutated cell-lines were more sensitive to STAT3 inhibition… (full text at CIViC)

PMID 26267899 · Peyser et al., 2015 · Open in CIViC

PTPRT promoter hypermethylation was associated with increased sensitivity to STAT3 inhibition in this preclinical study in HNSCC. The authors found that PTPRT promoter methylation and sensitivity to S… (full text at CIViC)

PMID 25982282 · Peyser et al., 2016 · Open in CIViC

Study of a family with three generations of history indicating co-segregation of RET C609Y and multiple endocrine neoplasia type 2A, many of whom exhibited medullary thyroid cancers specifically. 22 … (full text at CIViC)

PMID 19472011 · Calva et al., 2009 · Open in CIViC

This study performed various functional characterizations of several RET mutations known to occur as pathogenic germline variants in multiple endocrine neoplasia type 2 and medullary thyroid cancer. S… (full text at CIViC)

PMID 16715139 · Mise et al., 2006 · Open in CIViC

Sixty-nine individuals from 12 different families presented a codon 634 mutation, the most prevailing missense mutation in our series. The specific mutations identified were C634Y (n = 49), C634R (n =… (full text at CIViC)

PMID 12788868 · Puñales et al., 2003 · Open in CIViC

In an in vitro study, a MTC-TT cell line expressing RET C634W mutation (endogenous) demonstrated resistance to axitinib treatment (IC50: 1.56uM). Resistance was determined by assessing cell viability… (full text at CIViC)

PMID 21470995 · Verbeek et al., 2011 · Open in CIViC

Medullary thyroid cancer cells with RET C634W mutation are insensitive to motesanib, compared to wild-type RET.

PMID 21422803 · Coxon et al., 2012 · Open in CIViC

A 15-year-old boy with metastatic medullary thyroid carcinoma harboring an RET exon 6 deletion (D378_G685>E), previously treated sequentially with four multitargeted kinase inhibitors (vandetanib, sun… (full text at CIViC)

PMID 32923911 · Ortiz et al., 2020 · Open in CIViC

In a study of 56 Medullary Thyroid Cancer patients (50 somatic and 6 hereditary) two patients had somatic p.E632_L633del. One of them had p.E632_L633del and p.D898_E901del found in lymph node metasta… (full text at CIViC)

PMID 29515777 · Romei et al., 2018 · Open in CIViC

Among 319 medullary thyroid cancer patients enrolled in the LIBRETTO-001 trial, 9 patients harbored the RET p.E632_L633del mutation (c.1894_1899delGAGCTG) in their tumor. After treatment with the sel… (full text at CIViC)

PMID 37376747 · Szymczak et al., 2023 · Open in CIViC

A patient with advanced progressive medullary thyroid cancer and distant metastatic disease harbored the somatic RET E632_L633del indel and was treated under the LIBRETTO-201 (NCT03906331) trial. Selp… (full text at CIViC)

PMID 35616103 · Elisei et al., 2022 · Open in CIViC

Cell-free DNA was analysed in a patient with RET-mutant (M918T and V804M) medullary thyroid cancer and another patient with CCDC6-RET fusion positive non-small cell lung cancer who had developed acqui… (full text at CIViC)

PMID 33161056 · Subbiah et al., 2021 · Open in CIViC

In a study of 100 patients with sporadic medullary thyroid carcinoma (MTC), RET gene exons 10-11 and 13-16 were analyzed with tumor and matched normal samples. A somatic RET mutation was identified in… (full text at CIViC)

PMID 18073307 · Elisei et al., 2008 · Open in CIViC

In a study of 64 patients (48 kindreds), 62 had germline mutations at known hotspots in RET. Patients with RET M918T mutation were associated with MEN 2B subtype and developed larger and more aggressi… (full text at CIViC)

PMID 9839497 · Egawa et al., 1998 · Open in CIViC