Endocrine Neoplasm

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 a phase 2 basket trial, patients with small-cell lung carcinoma (SLC) who failed platinum-based chemotherapy and harbored RICTOR amplification were treated with mTOR 1/2 inhibitor vistusertib (AZD2… (full text at CIViC)

Open in CIViC

RICTOR amplification was observed in ca. 14% of 42 SCLC patients with panel sequencing results. 4 cell lines (2 with RICTOR CN gain, 2 without) were tested for the efficacy of mTOR pathway inhibitors.… (full text at CIViC)

PMID 27863413 · Sakre et al., 2017 · Open in CIViC

Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas (PA) were investigated. Known pheo/PGL genes (SDHA-D, SDHAF2, RET, VHL, TMEM127, MAX, FH) and pituitary adenoma genes (MEN1, A… (full text at CIViC)

PMID 25494863 · Dénes et al., 2015 · Open in CIViC

A germline SDHB c.314T>A variant was found in a 37 year old man with metastatic sympathetic abdominal paraganglioma. The variant was originally classified as a VUS. The loss of SDHB expression on the … (full text at CIViC)

PMID 40213107 · Bernardi et al., 2025 · Open in CIViC

An in-frame duplication of 12 nucleotides resulting in the insertion of 4 amino acids within exon 6 of the SDHB gene was found in a single female case (a 13-year-old) with confirmed paraganglioma. The… (full text at CIViC)

PMID 20193854 · Musil et al., 2010 · Open in CIViC

SLFN11 is a relevant predictive biomarker of sensitivity to PARP inhibitor monotherapy in SCLC as well as combinatorial therapy with TMZ.

PMID 27440269 · Lok et al., 2017 · Open in CIViC

Bragas et al (2022) report a case study of a 50-year old female with a papillary thyroid carcinoma with multiple metastases containing a SQSTM1::NTRK1 fusion treated with larotrectinib. SQSTM1::NTRK1 … (full text at CIViC)

PMID 35118995 · Bargas et al., 2022 · Open in CIViC

Phase II study of pasireotide in metastatic neuroendocrine tumours enrolled 29 patients. Overall median PFS was 11 months (95% CI, 7.6–16 months). High SSTR5 expression (seen in 17/22 samples measured… (full text at CIViC)

PMID 25376618 · Cives et al., 2015 · Open in CIViC

In patients with papillary thyroid cancer harboring both BRAF V600E and the TERT promotor mutation C228T, recurrence-free survival is worse than in patients harboring one of these mutations or no muta… (full text at CIViC)

PMID 25024077 · Xing et al., 2014 · Open in CIViC

A 54-year-old female with recurrent stage IV ACC that progressed after adrenalectomy, radiation, and mitotane had a TMB-high (11.6 mutations/Mb), MSS, PD-L1-negative tumor with a markedly clonal molec… (full text at CIViC)

PMID 42158873 · Nakhleh et al., 2026 · Open in CIViC

Temozolomide (TMZ), the principal alkylating agent used in PanNET, drives acquisition of a hypermutator phenotype through direct mutagenesis. In a paired pre/post-TMZ cohort (23 patients), a hypermuta… (full text at CIViC)

PMID 41244370 · Taboada et al., 2025 · Open in CIViC

TP53 mutation was shown to be associated with shorter overall survival in patients with adrenocortical tumors (log-rank test; P=0.098). Of 20 patients studied, 5 had coding mutation in TP53. Four of t… (full text at CIViC)

PMID 15922892 · Sidhu et al., 2005 · Open in CIViC

A healthy 12 year old with right neck mass was found to have heterogeneous solid mass originating from the right thyroid lobe. Total thyroidectomy confirmed papillary thyroid carcinoma (PTC) with mult… (full text at CIViC)

PMID 29610391 · Ronsley et al., 2018 · Open in CIViC

FFPE samples from 351 primary thyroid carcinomas were subjected to targeted gene rearrangement next-generation sequencing, and 11 NTRK rearrangements were found, all with intact kinase domains, and in… (full text at CIViC)

PMID 32457407 · Chu et al., 2020 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 51 year-old female with unil… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 72 year-old female with unil… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC

Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 35 year-old male with unilat… (full text at CIViC)

PMID 9663592 · van der Harst et al., 1998 · Open in CIViC