- Thyroid Cancer Diagnosis and Treatment
- Nutrition, Genetics, and Disease
- Ovarian cancer diagnosis and treatment
- Virus-based gene therapy research
- Salivary Gland Tumors Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Cancer-related Molecular Pathways
- Head and Neck Cancer Studies
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Photodynamic Therapy Research Studies
- Thyroid and Parathyroid Surgery
- RNA modifications and cancer
- Chromatin Remodeling and Cancer
- Cancer Immunotherapy and Biomarkers
- Cancer, Hypoxia, and Metabolism
- Cancer Mechanisms and Therapy
- Mechanisms of cancer metastasis
- Immunotherapy and Immune Responses
- Cancer-related molecular mechanisms research
- Ear and Head Tumors
- Animal Virus Infections Studies
- Head and Neck Anomalies
- Renal and related cancers
- Cancer, Lipids, and Metabolism
Memorial Sloan Kettering Cancer Center
2016-2025
Kettering University
2000-2025
New York University
2022
National Institutes of Health
2014-2022
Cleveland Clinic
2021
Policlinico S.Orsola-Malpighi
2020
University of Bologna
2020
University of Iowa Hospitals and Clinics
2020
Istituto Ortopedico Rizzoli
2020
Queen Elizabeth Hospital Birmingham
2020
<h2>Summary</h2> Papillary thyroid carcinoma (PTC) is the most common type of cancer. Here, we describe genomic landscape 496 PTCs. We observed a low frequency somatic alterations (relative to other carcinomas) and extended set known PTC driver include <i>EIF1AX</i>, <i>PPM1D</i>, <i>CHEK2</i> diverse gene fusions. These discoveries reduced fraction cases with unknown oncogenic from 25% 3.5%. Combined analyses variants, expression, methylation demonstrated that different groups lead...
Although growing evidence points to highly indolent behavior of encapsulated follicular variant papillary thyroid carcinoma (EFVPTC), most patients with EFVPTC are treated as having conventional cancer.To evaluate clinical outcomes, refine diagnostic criteria, and develop a nomenclature that appropriately reflects the biological characteristics EFVPTC.International, multidisciplinary, retrospective study nodules diagnosed EFVPTC, including 109 noninvasive observed for 10 26 years 101...
BACKGROUND. Poorly differentiated thyroid cancer (PDTC) and anaplastic (ATC) are rare frequently lethal tumors that so far have not been subjected to comprehensive genetic characterization.
A risk-adapted approach to management of thyroid cancer requires risk estimates that change over time based on response therapy and the course disease. The objective this study was validate American Thyroid Association (ATA) recurrence staging system determine if an assessment during first 2 years follow-up can modify these initial estimates.This retrospective review identified 588 adult follicular cell-derived patients followed for a median 7 (range 1-15 years) after total thyroidectomy...
Metastatic thyroid cancers that are refractory to radioiodine (iodine-131) associated with a poor prognosis. In mouse models of cancer, selective mitogen-activated protein kinase (MAPK) pathway antagonists increase the expression sodium–iodide symporter and uptake iodine. Their effects in humans not known.
Abstract Patients with poorly differentiated thyroid cancers (PDTC), anaplastic (ATC), and radioactive iodine-refractory (RAIR) have a high mortality, particularly if positive on [18F]fluorodeoxyglucose (FDG)-positron emission tomography (PET). To obtain comprehensive genetic information advanced cancers, we designed an assay panel for mass spectrometry genotyping encompassing the most significant oncogenes in this disease: 111 mutations RET, BRAF, NRAS, HRAS, KRAS, PIK3CA, AKT1, other...
Active surveillance of low-risk papillary thyroid cancer (PTC) is now an accepted alternative to immediate surgery, but experience with this approach outside Japan limited. The kinetics (probability, rate, and magnitude) PTC tumor growth under active have not been well defined.To describe the during surveillance.Cohort study 291 patients undergoing for (intrathyroidal tumors ≤1.5 cm) serial measurements via ultrasonography at a tertiary referral center in United States.Active...
TERT encodes the reverse transcriptase component of telomerase, which adds telomere repeats to chromosome ends, thus enabling cell replication. Telomerase activity is required for immortalization. Somatic promoter mutations modifying key transcriptional response elements were recently reported in several cancers, such as melanomas and gliomas.The objectives study were: 1) determine prevalence C228T C250T different thyroid cancer histological types lines; 2) establish possible association...
There is continuous debate regarding the optimal classification, prognosis, and treatment of follicular variant papillary thyroid carcinoma (FVPTC). The objective this study was to assess behavior FVPTC, especially its encapsulated form, shed more light on true position in classification scheme well differentiated carcinoma.All patients with adenoma (FTA), (FTC) who were diagnosed between 1980 1995 reviewed reclassified according currently accepted definition FVPTC. tumors separated into...
Advanced human thyroid cancers, particularly those that are refractory to treatment with radioiodine (RAI), have a high prevalence of BRAF (v-raf murine sarcoma viral oncogene homolog B1) mutations. However, the degree which these cancers dependent on expression is still unclear. To address this question, we generated mice expressing one most commonly detected mutations in papillary carcinomas (BRAF(V600E)) follicular cells doxycycline-inducible (dox-inducible) manner. Upon dox induction...
The Bethesda System for Reporting Thyroid Cytopathology is the standard interpreting fine needle aspiration (FNA) specimens. "atypia of undetermined significance/follicular lesion significance" (AUS/FLUS) category, known as Category III, has been ascribed a malignancy risk 5-15%, but probability in AUS/FLUS specimens remains unclear. Our objective was to determine thyroid FNAs categorized at comprehensive cancer center.The management 541 nodule patients treated Memorial Sloan-Kettering...
<h3>Importance</h3> Use of next-generation sequencing RNA and machine learning algorithms can classify the risk malignancy in cytologically indeterminate thyroid nodules to limit unnecessary diagnostic surgery. <h3>Objective</h3> To measure performance a genomic classifier for nodules. <h3>Design, Setting, Participants</h3> A blinded validation study was conducted on set collected by fine-needle aspiration biopsy between June 2009 December 2010 from 49 academic community centers United...
BackgroundMammary analogue secretory carcinoma (MASC) is a recently described pathologic entity. We report the case of patient with an initial diagnosis salivary acinic cell later reclassified as MASC after next-generation sequencing revealed ETV6-NTRK3 fusion.Patients and methodsThis alteration was targeted pan-Trk inhibitor entrectinib (Ignyta), which possesses potent in vitro activity against lines containing various NTRK1/2/3 fusions.ResultsA dramatic durable response achieved this...
Abstract Context: Medullary thyroid cancer (MTC) is a rare that can occur sporadically or as part of hereditary syndrome. Objective: To explore the genetic origin MTC, we sequenced protein coding exons approximately 21,000 genes in 17 sporadic MTCs. Patients and Design: We exomes MTCs validated frequency all recurrently mutated other interest an independent cohort 40 comprised both MTC. Results: discovered 305 high-confidence mutations discovery phase, 17.9 somatic per tumor. Mutations RET,...
Background: Anaplastic thyroid carcinoma (ATC) is nearly always fatal. Large studies on ATC are exceedingly rare. We aimed to study the clinical, genotypic, and histologic characteristics of in largest retrospective cohort date. Methods: Three hundred sixty patients with from two tertiary centers were studied. Molecular testing was performed 126 cases including 107 using next-generation sequencing. Results: The median patients' age 68 years. Differentiated (DTC) present 208 (58%), most...
Context: Hurthle cell cancer (HCC) is an understudied with poor prognosis. Objective: Our objective was to elucidate the genomic foundations of HCC. Design and Setting: We conducted a large-scale integrated analysis mutations, gene expression profiles, copy number alterations in HCC at single tertiary-care institution. Methods: Mass spectrometry-based genotyping used interrogate hot spot point mutations most common thyroid oncogenes: BRAF, RET, NRAS, HRAS, KRAS, PIK3CA, MAP2K1, AKT1. In...
BRAFV600E mutant thyroid cancers are often refractory to radioiodine (RAI). To investigate the utility and molecular underpinnings of enhancing lesional iodide uptake with BRAF inhibitor vemurafenib in patients RAI-refractory (RAIR). This was a pilot trial that enrolled from June 2014 January 2016. Academic cancer center. Patients RAIR, cancer. underwent thyrotropin-stimulated iodine-124 (124I) positron emission tomography scans before after ~4 weeks vemurafenib. Those increased RAI...