Associated Papers
Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).
McCarthy M et al.
Mayo Clinic Proceedings, 2026
MTOR-mutated eosinophilic renal cell carcinomas with loss of chromosome 1 and high metastatic potential: further expanding the spectrum of TSC/mTOR pathway mutated renal tumors.
Kwon JW et al.
Virchows Archiv : an International Journal of Pathology, 2025
mTOR Variants Activation Discovers PI3K-like Cryptic Pocket, Expanding Allosteric, Mutant-Selective Inhibitor Designs.
Liu Y et al.
Journal of Chemical Information and Modeling, 2025
Low-grade oncocytic tumor of the kidney-a clinical, pathological, and next generation sequencing-based study of 20 tumors.
Jenei A et al.
Pathology Oncology Research : Por, 2025
Genetic validation of a TSC2 immunohistochemistry assay in TSC/mTOR-pathway altered renal tumors.
Akbari A et al.
Human Pathology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
L1 Cell Adhesion Molecule (L1CAM) Expression and Molecular Alterations Distinguish Low-Grade Oncocytic Tumor From Eosinophilic Chromophobe Renal Cell Carcinoma.
Alghamdi M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024
Concordance of MTOR Pathway Mutations and the Diagnosis of Renal Low-Grade Oncocytic Tumor (LOT).
Siegmund SE et al.
International Journal of Surgical Pathology, 2024
Mutational landscape of head and neck cancer and cervical cancer in Chinese and Western population.
Li Q et al.
Head & Neck, 2024
The allosteric mechanism of mTOR activation can inform bitopic inhibitor optimization.
Liu Y et al.
Chemical Science, 2024
mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy.
Caliò A et al.
Virchows Archiv : an International Journal of Pathology, 2023
Evaluation of an institutional series of low-grade oncocytic tumor (LOT) of the kidney and review of the mutational landscape of LOT.
Ricci C et al.
Virchows Archiv : an International Journal of Pathology, 2023
Genomics-Driven Precision Medicine in Pediatric Solid Tumors.
Suthapot P et al.
Cancers, 2023
Low-grade oncocytic tumour of the kidney is characterised by genetic alterations of TSC1, TSC2, MTOR or PIK3CA and consistent GATA3 positivity.
Williamson SR et al.
Histopathology, 2023
Low-grade oncocytic tumour (LOT) of the kidney is characterised by GATA3 positivity, FOXI1 negativity and mTOR pathway mutations.
Chen T et al.
Pathology Oncology Research : Por, 2023
Molecular and Functional Heterogeneity of Primary Pancreatic Neuroendocrine Tumors and Metastases.
Guo Y et al.
Neuroendocrinology, 2023
TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : A Targeted Next-generation Sequencing and Gene Expression Profiling Study.
Xia QY et al.
The American Journal of Surgical Pathology, 2022
Low-grade oncocytic tumor of kidney harboring TSC/MTOR mutation: clinicopathologic, immunohistochemical and molecular characteristics support a distinct entity.
Zhang HZ et al.
Virchows Archiv : an International Journal of Pathology, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases.
Farcaş M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1.
Morini A et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Germline and sporadic mTOR pathway mutations in low-grade oncocytic tumor of the kidney.
Kapur P et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.
Leung SOA et al.
The Oncologist, 2021
Eosinophilic renal cell carcinoma with isolated MTOR mutation metastatic to the liver: a novel case.
Tjota MY et al.
Pathology, 2021
Eosinophilic Vacuolated Tumor of the Kidney: A Review of Evolving Concepts in This Novel Subtype With Additional Insights From a Case With MTOR Mutation and Concomitant Chromosome 1 Loss.
Kapur P et al.
Advances in Anatomic Pathology, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD et al.
Plos Genetics, 2021
Genetic Characteristics of Colorectal Neuroendocrine Carcinoma: More Similar to Colorectal Adenocarcinoma.
Chen L et al.
Clinical Colorectal Cancer, 2021
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Eosinophilic Renal Cell Tumors With a TSC and MTOR Gene Mutations Are Morphologically and Immunohistochemically Heterogenous: Clinicopathologic and Molecular Study.
Tjota M et al.
The American Journal of Surgical Pathology, 2020
Next-generation RNA Sequencing-based Biomarker Characterization of Chromophobe Renal Cell Carcinoma and Related Oncocytic Neoplasms.
Skala SL et al.
European Urology, 2020
"Renal Cell Carcinoma With Leiomyomatous Stroma" Harbor Somatic Mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): Clinicopathologic and Molecular Characterization of 18 Sporadic Tumors Supports a Distinct Entity.
Shah RB et al.
The American Journal of Surgical Pathology, 2020
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Clinical Utility of Prospective Molecular Characterization in Advanced Endometrial Cancer.
Soumerai TE et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
Brain Somatic Mutations in Epileptic Disorders.
Koh HY et al.
Molecules and Cells, 2018
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.
Gopal RK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G et al.
Clinical Genetics, 2018
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E et al.
Neuropathology and Applied Neurobiology, 2018
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Erson-Omay EZ et al.
Genome Medicine, 2017
Overcoming mTOR resistance mutations with a new-generation mTOR inhibitor.
Rodrik-Outmezguine VS et al.
Nature, 2016
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
Lim JS et al.
Nature Medicine, 2015