Challenges and opportunities of next-generation sequencing: a cytopathologist's perspective

Kinase Genotype Analysis of Gastric Gastrointestinal Stromal Tumor Cytology Samples Using Targeted Next-Generation Sequencing

(2015) Ferga C. Gleeson et al.   Clinical Gastroenterology and Hepatology

Abstract 3575: The OncoNetwork Consortium: A global collaborative research study on the development and verification of an Ion AmpliSeq RNA gene lung fusion panel

(2015) Susan M. Magdaleno et al.   CANCER RESEARCH

Clinical Validation of KRAS, BRAF, and EGFR Mutation Detection Using Next-Generation Sequencing

(2014) Ming-Tseh Lin et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic?

(2014) Debu Tripathy et al.   BMC Medicine

Highly accurate diagnosis of cancer in thyroid nodules with follicular neoplasm/suspicious for a follicular neoplasm cytology by ThyroSeq v2 next-generation sequencing assay

(2014) Yuri E. Nikiforov et al.   CANCER

Lung cancer adrenal gland metastasis: Optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing

(2014) Ferga C. Gleeson et al.   CANCER CYTOPATHOLOGY

Multiplatform comparison of molecular oncology tests performed on cytology specimens and formalin-fixed, paraffin-embedded tissue

(2014) Michael P. Gailey et al.   CANCER CYTOPATHOLOGY

Integrated Genomic Characterization of Papillary Thyroid Carcinoma

(2014) Nishant Agrawal et al.   CELL

EGFR analysis: Current evidence and future directions

(2014) Claudio Bellevicine et al.   DIAGNOSTIC CYTOPATHOLOGY

Next-generation sequencing improves the diagnosis of thyroid FNA specimens with indeterminate cytology

(2014) Marie Le Mercier et al.   HISTOPATHOLOGY

Ion Torrent next-generation sequencing for routine identification of clinically relevant mutations in colorectal cancer patients

(2014) Umberto Malapelle et al.   JOURNAL OF CLINICAL PATHOLOGY

CTNNB1 mutational analysis of solid-pseudopapillary neoplasms of the pancreas using endoscopic ultrasound-guided fine-needle aspiration and next-generation deep sequencing

(2014) Yoshimasa Kubota et al.   JOURNAL OF GASTROENTEROLOGY

False Positives in Multiplex PCR-Based Next-Generation Sequencing Have Unique Signatures

(2014) Chad M. McCall et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Next-generation sequencing: a change of paradigm in molecular diagnostic validation

(2014) Manuel Salto-Tellez et al.   JOURNAL OF PATHOLOGY

Next Generation Sequencing Improves the Accuracy of KRAS Mutation Analysis in Endoscopic Ultrasound Fine Needle Aspiration Pancreatic Lesions

(2014) Dario de Biase et al.   PLoS One

Identification of the transforming STRN-ALK fusion as a potential therapeutic target in the aggressive forms of thyroid cancer

(2014) L. M. Kelly et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Navigating the Rapids: The Development of Regulated Next-Generation Sequencing-Based Clinical Trial Assays and Companion Diagnostics

(2014) Saumya Pant et al.   Frontiers in Oncology

Next-Generation Sequencing Platforms

(2013) Elaine R. Mardis   Annual Review of Analytical Chemistry

Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors: Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology

(2013) Neal I. Lindeman et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Epidermal growth factor receptor in lung cancer: The amazing interplay of molecular testing and cytopathology

(2013) Michael O. Idowu   CANCER CYTOPATHOLOGY

Clinical next-generation sequencing successfully applied to fine-needle aspirations of pulmonary and pancreatic neoplasms

(2013) Geneva Young et al.   CANCER CYTOPATHOLOGY

Targeted next-generation sequencing using fine-needle aspirates from adenocarcinomas of the lung

(2013) Hope E. Karnes et al.   CANCER CYTOPATHOLOGY

EGFR mutations detected on cytology samples by a centralized laboratory reliably predict response to gefitinib in non-small cell lung carcinoma patients

(2013) Umberto Malapelle et al.   CANCER CYTOPATHOLOGY

Routine use of the Ion Torrent AmpliSeq™ Cancer Hotspot Panel for identification of clinically actionable somatic mutations

(2013) Gregory J. Tsongalis et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Targeted Next-Generation Sequencing Panel (ThyroSeq) for Detection of Mutations in Thyroid Cancer

(2013) Marina N. Nikiforova et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Targeted, High-Depth, Next-Generation Sequencing of Cancer Genes in Formalin-Fixed, Paraffin-Embedded and Fine-Needle Aspiration Tumor Specimens

(2013) Andrew G. Hadd et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics

(2013) Rashmi Kanagal-Shamanna et al.   MODERN PATHOLOGY

Tumour heterogeneity in the clinic

(2013) Philippe L. Bedard et al.   NATURE

Molecular Typing of Lung Adenocarcinoma on Cytological Samples Using a Multigene Next Generation Sequencing Panel

(2013) Aldo Scarpa et al.   PLoS One

Next-Generation Sequencing of Lung Cancer EGFR Exons 18-21 Allows Effective Molecular Diagnosis of Small Routine Samples (Cytology and Biopsy)

(2013) Dario de Biase et al.   PLoS One

Evaluation of DNA from the Papanicolaou Test to Detect Ovarian and Endometrial Cancers

(2013) I. Kinde et al.   Science Translational Medicine

Applications and limitations of oncogene mutation testing in clinical cytopathology

(2013) Claudio Bellevicine et al.   SEMINARS IN DIAGNOSTIC PATHOLOGY

Increased detection rates of EGFR and KRAS mutations in NSCLC specimens with low tumour cell content by 454 deep sequencing

(2013) Evgeny A. Moskalev et al.   VIRCHOWS ARCHIV

KRAS mutation detection by high-resolution melting analysis significantly predicts clinical benefit of cetuximab in metastatic colorectal cancer

(2012) U Malapelle et al.   BRITISH JOURNAL OF CANCER

BRAFmutation detection in indeterminate thyroid cytology specimens

(2012) N. Paul Ohori et al.   CANCER CYTOPATHOLOGY

Next-generation sequencing in the clinic: Promises and challenges

(2012) Jiekun Xuan et al.   CANCER LETTERS

Effective Assessment of egfr Mutation Status in Bronchoalveolar Lavage and Pleural Fluids by Next-Generation Sequencing

(2012) F. Buttitta et al.   CLINICAL CANCER RESEARCH

Progress in Ion Torrent semiconductor chip based sequencing

(2012) Barry Merriman et al.   ELECTROPHORESIS

Combining Highly Multiplexed PCR with Semiconductor-Based Sequencing for Rapid Cancer Genotyping

(2012) Carol Beadling et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Assuring the quality of next-generation sequencing in clinical laboratory practice

(2012) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

Complex Mutations & Subpopulations of Deletions at Exon 19 of EGFR in NSCLC Revealed by Next Generation Sequencing: Potential Clinical Implications

(2012) Antonio Marchetti et al.   PLoS One

Multiplex Mutation Screening by Mass Spectrometry

(2011) Carol Beadling et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An integrated semiconductor device enabling non-optical genome sequencing

(2011) Jonathan M. Rothberg et al.   NATURE

Molecular diagnostics on thyroid fine-needle aspirations

(2010) Douglas P. Clark   CANCER CYTOPATHOLOGY

Contribution of molecular testing to thyroid fine-needle aspiration cytology of “follicular lesion of undetermined significance/atypia of undetermined significance”

(2010) N. Paul Ohori et al.   CANCER CYTOPATHOLOGY

Cytology-based gene mutation tests to predict response to anti-epidermal growth factor receptor therapy: A review

(2010) Umberto Malapelle et al.   DIAGNOSTIC CYTOPATHOLOGY

Seize the opportunity

(2009) Douglas P. Clark   CANCER CYTOPATHOLOGY

EGFRmutations are detected comparably in cytologic and surgical pathology specimens of nonsmall cell lung cancer

(2009) Jason H. Smouse et al.   CANCER CYTOPATHOLOGY

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

The development and impact of 454 sequencing

(2008) Jonathan M Rothberg et al.   NATURE BIOTECHNOLOGY