Head and Neck Carcinoma

Molecularly guided treatment with imatinib in analogy to the management of gastrointestinal stromal tumor (GIST) resulted in a dramatic and durable response with remission of nearly all tumor manifest… (full text at CIViC)

PMID 27687311 · Dieter et al., 2017 · Open in CIViC

TPO-CRE mediated, thyroid specific KRAS G12D expression was unable to tranform thyroid follicular cells alone, indicating these mutations require co-operating events to cause invasion and metastatic d… (full text at CIViC)

PMID 19351816 · Miller et al., 2009 · Open in CIViC

In an in vitro study, a CAL62 cell line expressing KRAS G12R demonstrated reduced sensitivity to vemurafenib treatment, compared to BRAF V600E expressing cells (8505C, SWI1736, BHT101 and BCPAP). Sens… (full text at CIViC)

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

In the retrospective analysis of 103 HNSSC, the TG/GG rs61764370 variant was associated with poor response to cisplatin (log-rank P = 0.002).There seemed to be some improvement when cetuximab was adde… (full text at CIViC)

PMID 25081901 · Chung et al., 2014 · Open in CIViC

In a clinical trial including 78 patients, expression of delta5 is significantly associated with decreased OS (p = 0.02) and DFS (p = 0.01) by multivariate analysis.

PMID 30770730 · Rot et al., 2019 · Open in CIViC

A stage IVA head and neck squamous cell carcinoma patient with MAPK1 E322K mutation was reported to be sensitive to erlotinib treatment. The patient was treated with erlotinib monotherapy daily for 13… (full text at CIViC)

PMID 26181029 · Van Allen et al., 2015 · Open in CIViC

Case report of a patient with stage IVA HNSCC with near-complete histologic response after 13 days of neoadjuvant erlotinib. Whole-exome sequencing of the pre-treatment tumor revealed a MAPK1 E322K mu… (full text at CIViC)

PMID 26181029 · Van Allen et al., 2015 · Open in CIViC

In an in vitro study, a HSC-6 cell line expressing MAPK1 E322K mutation was associated with sensitivity to erlotinib treatment, compared to Cal33 cells expressing wild-type MAPK1. Sensitivity was dete… (full text at CIViC)

PMID 27004400 · Wen et al., 2016 · Open in CIViC

Two patients diagnosed with oncocytic thyroid carcinoma (hurthle cell thyroid carcinoma) were evaluated for MEN1 mutations. One tumor showed 592-end deletion of MEN1 and the other showed a 521 frames… (full text at CIViC)

PMID 25625803 · Kasaian et al., 2015 · Open in CIViC

After an 18-month sustained response to everolimus (in a patient with metastatic anaplastic thyroid carcinoma whose pretreatment tumor harbored a TSC2 Q1178* inactivating mutation, see EID1108), the r… (full text at CIViC)

PMID 25295501 · Wagle et al., 2014 · Open in CIViC

NF2 loss promotes oncogenic RAS-signaling via YAP-dependent transactivation of RAS and sensitizes to MEK inhibition. The authors demonstrate this in (A) isogenic lines derived from C643 cells (HRASG13… (full text at CIViC)

PMID 26359368 · Garcia-Rendueles et al., 2015 · Open in CIViC

In a phase II, nonrandomized, single-arm trial (NCT03740100), 8 patients with recurrent/metastatic HNSCC harboring NOTCH1 mutations predicted to cause loss of function received bimiralisib after prior… (full text at CIViC)

PMID 36124629 · Johnson et al., 2022 · Open in CIViC

In an evaluation of 96 head and neck squamous cell carcinoma (HNSCC) cell lines, 31 were responsive to LGK974 (PORCN inhibitor). Of 40 cell lines (25 responsive, 15 non-responsive) that were exome seq… (full text at CIViC)

PMID 24277854 · Liu et al., 2013 · Open in CIViC

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

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

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

The Cal-33 HNSCC cell line with H1047R mutation was found to have a low antiproliferative IC50 value for the alpha, gamma and delta isoform-specific PI3K inhibitor taselisib. Increasing taselisib conc… (full text at CIViC)

PMID 26589432 · Zumsteg et al., 2016 · 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

A panel of 26 HNSCC cell lines was tested for efficacy of the p110 alpha, delta and gamma isoform inhibitor taselisib (GDC-0032). Cell lines with PIK3CA mutation or amplification were the most sensiti… (full text at CIViC)

PMID 26589432 · Zumsteg et al., 2016 · 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

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