Head and Neck Carcinoma, Other

In this 2017 study, the authors sought to characterize NUT carcinomas. They included a cohort of 12 aggressive malignant tumors with rearrangement of the NUTM1 gene, assessed by RT-PCR, FISH, positive… (full text at CIViC)

PMID 28643357 · Lemelle et al., 2017 · Open in CIViC

5 of 28 cases of undifferentiated carcinomas of the upper aerodigestive tract (UCUAT) not associated with EBV infection were found to have NUTM1 rearrangements suggesting NUT midline carcinoma may be… (full text at CIViC)

PMID 18391746 · Stelow et al., 2008 · Open in CIViC

In the clinic, compassionate use of the BET inhibitor birabresib (also known as OTX015 or MK-8628) induced rapid tumor regression in 2 of 4 patients with confirmed BRD4-NUTM1 fusions and significant d… (full text at CIViC)

PMID 26976114 · Stathis et al., 2016 · Open in CIViC

Treatment of the patient-derived 797 NMC cell line for 48 hours with JQ1 (500 nM) provoked terminal differentiation which was accompanied by growth arrest and sustained inhibition of proliferation. … (full text at CIViC)

PMID 20871596 · Filippakopoulos et al., 2010 · Open in CIViC

BRD4-NUT fusion was found to be associated with globally decreased histone acetylation and transcriptional repression in gain-of-expression and loss-of-expression assays. Following these results, it w… (full text at CIViC)

PMID 21447744 · Schwartz et al., 2011 · Open in CIViC

A 10-year-old male patient with NUT Midline Carcinoma (NMC) harbouring the BRD4-NUT fusion gene was treated with vorinostat, an HDAC inhibitor, at a daily dose of 400 mg. In patient-derived NMC cells,… (full text at CIViC)

PMID 21447744 · Schwartz et al., 2011 · Open in CIViC

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

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

In two out of three patients with MTC treated in a phase1/2 trial, the RET G810 mutation emerged in ctDNA together with an acquired resistance after initial response to selpercatinib.

PMID 31988000 · Solomon et al., 2020 · Open in CIViC

After progressing on 6 multi-kinase inhibitor (MKI) regimens (including sorafenib , vandetanib, cabozantinib, MGCD-516, RXDX-105, and vandetanib plus everolimus ), a metastatic medullary thyroid cance… (full text at CIViC)

PMID 29912274 · Subbiah et al., 2018 · Open in CIViC

After progressing on 6 multi-kinase inhibitor (MKI) regimens (including sorafenib , vandetanib, cabozantinib, MGCD-516, RXDX-105, and vandetanib plus everolimus ), a metastatic medullary thyroid cance… (full text at CIViC)

PMID 29912274 · Subbiah et al., 2018 · 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 this retrospective analysis of a phase 3 trial of cabozantinib or placebo in 330 patients. Among those, 51.2% were RET mutation-positive (38.2% with RET M918T), 34.8% were RET mutation-unknown, and… (full text at CIViC)

PMID 27525386 · Sherman et al., 2016 · Open in CIViC

A patient with RET M918T-mutant medullary thyroid cancer metastatic to the liver and an acquired RET V804M gatekeeper resistance mutation, previously treated with six MKI regimens, experienced rapid r… (full text at CIViC)

PMID 29912274 · Subbiah et al., 2018 · Open in CIViC

In this phase 1 trial, 57 patients were treated with the selective RET Inhibitor selpercatinib (LOXO-292). A 57-year-old male with a hereditary RET V804M gatekeeper mutation treated with 3 prior multi… (full text at CIViC)

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

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 this 2020 study, the authors included a total of 141 NUT carcinomas defined by rearrangement of NUTM1 detected by IHC, cytogenetics, FISH or sequencing. The median age at diagnosis was 24 years (ra… (full text at CIViC)

PMID 32328562 · Chau et al., 2020 · Open in CIViC

In this 2004 study, the authors sought to identify carcinomas with translocation t(15;19)(q13, p13.1), which results in the novel oncogenic fusion BRD4::NUTM1 (described as NUT). The authors screened … (full text at CIViC)

PMID 15483023 · French et al., 2004 · Open in CIViC