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A phase I trial of the pan-ERBB inhibitor neratinib combined with the MEK inhibitor trametinib in patients with advanced cancer with EGFR mutation/amplification, HER2 mutation/amplification, HER3/4 mutation or KRAS mutation
PurposeAberrant alterations of ERBB receptor tyrosine kinases lead to tumorigenesis. Single agent therapy targeting EGFR or HER2 has shown clinical...
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Trans-activating mutations of the pseudokinase ERBB3
Genetic changes in the ERBB family of receptor tyrosine kinases serve as oncogenic driver events and predictive biomarkers for ERBB inhibitor drugs....
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Post-therapy emergence of an NBN reversion mutation in a patient with pancreatic acinar cell carcinoma
Pancreatic acinar cell carcinoma (PACC) is a rare form of pancreatic cancer that commonly harbors targetable alterations, including activating...
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Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm
BackgroundSpindle cell tumours in the sinonasal area are diagnostically challenging. We identified a neoplasm that defied histopathological...
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Targeted next-generation sequencing reveals activating CTNNB1 mutations in SMARCA4/BRG1-deficient sinonasal carcinomas: a report of two new cases and a brief review of the literature with an emphasis on histogenesis
SMARCA4/BRG1 is a catalytic subunit of the SWItch/sucrose non-fermentable (SWI/SNF) complex and its inactivation is known to drive a variety of...
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Metastatic clear-cell renal cell carcinoma: a frequent NOTCH1 mutation predictive of response to anti-NOTCH1 CB-103 treatment
BackgroundClear-cell renal cell carcinomas (ccRCCs) are malignant tumors with high metastatic potential and resistance to treatments occurs almost...
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A novel germline hyperactivating JAK2 mutation L604F
Somatic JAK2 mutations are the main molecular cause of the vast majority of polycythemia vera (PV) cases. According to a recent structural model, the...
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The SMARCA4R1157W mutation facilitates chromatin remodeling and confers PRMT1/SMARCA4 inhibitors sensitivity in colorectal cancer
Genomic studies have demonstrated a high frequency of genetic alterations in components of the SWI/SNF complex including the core subunit SMARCA4....
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A destabilizing Y891D mutation in activated EGFR impairs sensitivity to kinase inhibition
EGFR tyrosine kinase inhibitors (TKIs) have transformed the treatment of EGFR-mutated non-small cell lung carcinoma (NSCLC); however, therapeutic...
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Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
BackgroundSomatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from...
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Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons
BackgroundSH3 and multiple ankyrin repeat domains protein 3 (SHANK3) monogenic mutations or deficiency leads to excessive stereotypic behavior and...
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Analysis of mutation profiles in extranodal NK/T-cell lymphoma: clinical and prognostic correlations
The molecular pathogenesis of extranodal NK/T-cell lymphoma (NKTCL) remains obscured despite the next-generation sequencing (NGS) studies explored on...
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Blinatumomab-induced macrophage activating syndrome (MAS) in adult with B-cell acute lymphoblastic leukemia (B-ALL)
Blinatumomab as a single agent has demonstrated superiority over salvage chemotherapy in patients with relapsed and refractory B-cell acute...
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Lysophosphatidic acid contributes to myocardial ischemia/reperfusion injury by activating TRPV1 in spinal cord
Lysophosphatidic acid (LPA) is a bioactive phospholipid that plays a crucial role in cardiovascular diseases. Here, we question whether LPA...
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YB-1 activating cascades as potential targets in KRAS-mutated tumors
Y‑box binding protein‑1 (YB-1) is a multifunctional protein that is highly expressed in human solid tumors of various entities. Several cellular...
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TESC promotes differentiated thyroid cancer development by activating ERK and weakening NIS and radioiodine uptake
PurposeMost differentiated thyroid cancer (DTC) patients have a good prognosis after surgery, but radioiodine refractory differentiated thyroid...
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Circular RNA CircSLC22A23 Promotes Gastric Cancer Progression by Activating HNRNPU Expression
BackgroundCircular RNAs (CircRNAs) play essential roles in cancer occurrence as regulatory RNAs. However, circRNA-mediated regulation of gastric...
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Apparent diffusion coefficient value of brain metastasis from lung carcinoma as potential predictor of epidermal growth factor receptor mutation
BackgroundLung carcinoma metastases to the brain occurred in 40% of all lung carcinoma cases and it occupied the top ranking of mortality of cancers....
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B7–H4 is increased in lung adenocarcinoma harboring EGFR-activating mutations and contributes to immunosuppression
PD-1/PD-L1 inhibitors have shown clinical benefit in lung adenocarcinoma (LUAD). However, the immunotherapy strategy is less effective in patients...
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Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family
Thrombopoietin (THPO) is an essential factor for platelet production. Hereditary thrombocythemia (HT) is caused by a germline mutation of THPO , MPL ,...
