Publications by authors named "Marina N Nikiforova"

100Publications

Limitations of Detecting Genetic Variants from the RNA-Seq Data in Tissue and FNA Samples.

Thyroid 2020 Sep 18. Epub 2020 Sep 18.

Weill Cornell Medicine, 12295, Department of Pathology and Laboratory Medicine, New York, New York, United States.

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September 2020

Thyroid cytology smear slides: An untapped resource for ThyroSeq testing.

Cancer Cytopathol 2021 Jan 22;129(1):33-42. Epub 2020 Jul 22.

Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Perelman School of Medicine, Philadelphia, Pennsylvania.

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January 2021

Characterization of thyroid cancer driven by known and novel ALK fusions.

Endocr Relat Cancer 2019 11;26(11):803-814

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

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November 2019

Spectrum of TERT promoter mutations and mechanisms of activation in thyroid cancer.

Cancer Med 2019 10 13;8(13):5831-5839. Epub 2019 Aug 13.

Department of Pathology and Laboratory Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

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October 2019

Characterization of Activating Mutations of the Gene in Papillary Thyroid Carcinomas.

Thyroid 2019 09;29(9):1279-1285

Department of Pathology and Laboratory Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

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September 2019

Interactive Browser-Based Genomics Data Visualization Tools for Translational and Clinical Laboratory Applications.

J Mol Diagn 2019 11 2;21(6):985-993. Epub 2019 Aug 2.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania. Electronic address:

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November 2019

GLIS rearrangements in thyroid nodules: A key to preoperative diagnosis of hyalinizing trabecular tumor.

Cancer Cytopathol 2019 Sep 2;127(9):560-566. Epub 2019 Aug 2.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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September 2019

MiRNAs Are Involved in Tall Cell Morphology in Papillary Thyroid Carcinoma.

Cancers (Basel) 2019 Jun 25;11(6). Epub 2019 Jun 25.

Institute of Pathology, University of Bern, Murtenstrasse 31, CH 3008 Bern, Switzerland.

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June 2019

Low-level BCR-ABL1 transcripts in individuals without overt hematologic malignancy.

Leuk Res 2019 06 22;81:98-101. Epub 2019 Apr 22.

University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, PA, United States. Electronic address:

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June 2019

Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Res 2019 02 8;21(1):22. Epub 2019 Feb 8.

Department of Pharmacology and Chemical Biology, and Human Genetics, UPMC Hillman Cancer Center, Magee-Womens Research Institute, University of Pittsburgh, 204 Craft Avenue, Pittsburgh, PA, 15213, USA.

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February 2019

Benign call rate and molecular test result distribution of ThyroSeq v3.

Cancer Cytopathol 2019 03 18;127(3):161-168. Epub 2018 Dec 18.

Department of Pathology, University of Pittsburgh Medical Center-Presbyterian, Pittsburgh, Pennsylvania.

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March 2019

Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing-Based Assays for Cancer.

J Mol Diagn 2018 09 21;20(5):628-634. Epub 2018 Jun 21.

Division of Molecular and Genomic Pathology, Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; Informatics Subdivision Leadership, Association for Molecular Pathology, Bethesda, Maryland. Electronic address:

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September 2018

Cancer risk and clinicopathological characteristics of thyroid nodules harboring thyroid-stimulating hormone receptor gene mutations.

Diagn Cytopathol 2018 May 8;46(5):369-377. Epub 2018 Mar 8.

Division of Endocrinology and Metabolism, NYU School of Medicine, NYU Langone Medical Center, New York, New York.

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May 2018

Incidental Diagnosis of Parathyroid Lesions by Preoperative Use of Next-Generation Molecular Testing.

World J Surg 2018 09;42(9):2840-2845

Division of Endocrine Surgery, University of Pittsburgh, 3471 Fifth Ave, Kauffman Bldg, Ste 101, Pittsburgh, PA, 15213, USA.

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September 2018

Authors' Reply.

J Mol Diagn 2018 01;20(1):125-126

Interpretation of Sequence Variants in Somatic Conditions Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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January 2018

DNA testing of pancreatic cyst fluid: is it ready for prime time?

Lancet Gastroenterol Hepatol 2017 01 10;2(1):63-72. Epub 2016 Dec 10.

Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

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January 2017

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.

J Mol Diagn 2017 05 21;19(3):341-365. Epub 2017 Mar 21.

Next-Generation Sequencing Analytical Validation Working Group of the Clinical Practice Committee, Bethesda, Maryland; University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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May 2017

Preoperative detection of RAS mutation may guide extent of thyroidectomy.

Surgery 2017 01 15;161(1):168-175. Epub 2016 Nov 15.

Department of Surgery, Division of Endocrine Surgery, University of Pittsburgh, Pittsburgh, PA. Electronic address:

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January 2017

ALK FISH patterns and the detection of ALK fusions by next generation sequencing in lung adenocarcinoma.

Oncotarget 2016 Dec;7(50):82943-82952

University of Pittsburgh Medical Center, Department of Pathology, Pittsburgh, PA, USA.

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December 2016

Response of relapsed central nervous system hairy cell leukemia to vemurafenib.

Leuk Lymphoma 2016 12 27;57(12):2952-2954. Epub 2016 Apr 27.

c Division of Neuro-Oncology , Hillman Cancer Center, University of Pittsburgh , Pittsburgh , PA , USA.

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December 2016

Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules.

Endocr Relat Cancer 2016 Apr 24;23(4):295-301. Epub 2016 Feb 24.

Department of PathologyUniversity of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA

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April 2016

Next-Generation Sequencing Informatics: Challenges and Strategies for Implementation in a Clinical Environment.

Arch Pathol Lab Med 2016 Sep 22;140(9):958-75. Epub 2016 Feb 22.

From the Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania (Drs Roy, LaFramboise, Nikiforov, Nikiforova, and Pantanowitz); the Department of Pathology, MD Anderson Cancer Center, Houston, Texas (Dr Routbort); the Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri (Drs Pfeifer and Nagarajan); PierianDx, St Louis, Missouri (Dr Nagarajan); and the Department of Pathology and Laboratory Medicine, Children's Healthcare of Atlanta, Atlanta, Georgia (Dr Carter).

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September 2016

Characterizing Molecular Variants and Clinical Utilization of Next-generation Sequencing in Advanced Breast Cancer.

Appl Immunohistochem Mol Morphol 2017 07;25(6):392-398

Departments of *Pathology, Division of Breast & Gynecologic Pathology ‡Oncology, Magee-Womens Hospital †Pathology, Division of Molecular & Genomic Pathology §Magee-Womens Research Institute & Foundation, The University of Pittsburgh Medical Center, Pittsburgh, PA.

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July 2017

Colorectal poorly differentiated neuroendocrine carcinomas frequently exhibit BRAF mutations and are associated with poor overall survival.

Hum Pathol 2016 Mar 17;49:124-34. Epub 2015 Nov 17.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213. Electronic address:

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March 2016

A Multiplexed Amplicon Approach for Detecting Gene Fusions by Next-Generation Sequencing.

J Mol Diagn 2016 Mar 30;18(2):165-75. Epub 2015 Dec 30.

Division of Molecular & Genomic Pathology, Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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March 2016

Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma.

Endocr Pathol 2016 Mar;27(1):70-5

Department of Pathology, University of Pittsburgh Medical Center, 3477 Euler Way, Pittsburgh, PA, 15213, USA.

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March 2016

Targeted next-generation sequencing panel (GlioSeq) provides comprehensive genetic profiling of central nervous system tumors.

Neuro Oncol 2016 Mar 17;18(3):379-87. Epub 2015 Dec 17.

Department of Pathology, Division of Molecular & Genomic Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania (M.N.N, A.I.W., M.A.M., S.R., S.Z., Y.E.N.); Department of Pathology, Division of Neuropathology, University of Pittsburgh Medical Center, Presbyterian Hospital, Pittsburgh, Pennsylvania (R.L.H.); Division of Hematology/Oncology, Hillman Cancer Center, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania (F.S.L., J.D.); Department of Neurological Surgery, Hillman Cancer Center, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania (N.M.A., I.F.P.); Departments of Pathology and Neurosurgery, Northwestern University, Chicago, Illinois (C.H.).

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March 2016

Histopathologic and Clinical Characterization of Thyroid Tumors Carrying the BRAF(K601E) Mutation.

Thyroid 2016 Feb 17;26(2):242-7. Epub 2015 Dec 17.

Department of Medicine, Division of Endocrinology, University of Pittsburgh Medical Center , Pittsburgh, Pennsylvania.

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February 2016

Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

Hum Pathol 2015 Nov 8;46(11):1616-25. Epub 2015 Jul 8.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213. Electronic address:

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November 2015

Primary RET-mutated lung neuroendocrine carcinoma in MEN2B: response to RET-targeted therapy.

Endocr Relat Cancer 2015 Oct 18;22(5):L19-22. Epub 2015 Aug 18.

Division of Hematology/Oncology, Department of Internal Medicine, University of Pittsburgh Cancer Institute5150 Centre Avenue, 5th Floor, Pittsburgh, Pennsylvania, 15232USADivision of Anatomic Pathology, Department of Pathology, University of Pittsburgh Medical CenterPittsburgh, PennsylvaniaUSADivision of Endocrinology and Metabolism, Department of Internal Medicine, University of Pittsburgh Medical CenterPittsburgh, PennsylvaniaUSADivision of Molecular Genomic Pathology, Department of Pathology, University of Pittsburgh Medical CenterPittsburgh, PennsylvaniaUSA

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October 2015

Mutations of TSHR and TP53 Genes in an Aggressive Clear Cell Follicular Carcinoma of the Thyroid.

Endocr Pathol 2015 Dec;26(4):315-9

Department of Pathology, University of Pittsburgh Medical Center, 3477 Euler Way, Pittsburgh, PA, 15213, USA.

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December 2015

Tumor genotype determines phenotype and disease-related outcomes in thyroid cancer: a study of 1510 patients.

Ann Surg 2015 Sep;262(3):519-25; discussion 524-5

*Department of Surgery, Division of Endocrine Surgery, University of Pittsburgh, Pittsburgh, PA †Department of Pathology, University of Pittsburgh, Pittsburgh, PA ‡Department of Medicine, Division of Endocrinology, University of Pittsburgh, Pittsburgh, PA §Department of Otolaryngology, University of Pittsburgh, Pittsburgh, PA.

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September 2015

The clinical importance of parathyroid atypia: is long-term surveillance necessary?

Surgery 2015 Oct 22;158(4):929-35; discussion 935-6. Epub 2015 Jul 22.

Department of Surgery, University of Pittsburgh, Pittsburgh, PA.

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October 2015

Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

Am J Surg Pathol 2015 Aug;39(8):1114-20

*Department of Internal Medicine, Division of Gastroenterology, Hereditary Tumor Program †Department of Internal Medicine, Oncology, Cancer Genetics Program ‡Department of Internal Medicine, Oncology §Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA.

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August 2015

Molecular characterization of apocrine salivary duct carcinoma.

Am J Surg Pathol 2015 Jun;39(6):744-52

Departments of *Pathology §Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA †Department of Pathology, Southern California Permanente Medical Group, Woodland Hills, CA ‡Department of Pathology, University Health Network, Toronto, ON, Canada.

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June 2015

The Cancer Genomics Resource List 2014.

Arch Pathol Lab Med 2015 Aug 1;139(8):989-1008. Epub 2014 Dec 1.

From the Department of Pathology, Microbiology, and Immunology, Vanderbilt University School of Medicine, Nashville, Tennessee (Dr Zutter); the Department of Pathology, Clarient Diagnostic Services, Aliso Viejo, California (Dr Bloom); the Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis (Dr Cheng); the Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri (Drs Hagemann and Pfeifer); Surveys, College of American Pathologists, Northfield, Illinois (Dr Kaufman); the Department of Pathology, Emory University, Atlanta, Georgia (Dr Krasinskas); the Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston (Dr Lazar); the Department of Pathology and Laboratory Medicine, Fletcher Allen Health Care, Burlington, Vermont (Dr Leonard); the Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts (Dr Lindeman); the Department of Pathology, Mayo Clinic, Rochester, Minnesota (Dr Moyer); Molecular and Genomic Pathology Laboratory, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania (Dr Nikiforova); the Department of Pathology, NorthShore University Health System, Evanston, Illinois (Dr Nowak); the Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York (Dr Sepulveda); the Department of Pathology, Case Medical Center/Case Western Reserve University, Cleveland, Ohio (Dr Willis); and the Department of Molecular Pathology and Hematopathology, University of Minnesota, Minneapolis (Dr Yohe).

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August 2015

Predicting the likelihood of an isocitrate dehydrogenase 1 or 2 mutation in diagnoses of infiltrative glioma.

Neuro Oncol 2014 Nov 23;16(11):1478-83. Epub 2014 May 23.

Biostatistics Shared Resource Facility, Markey Cancer Center, University of Kentucky, Lexington, Kentucky (L.C., H.W.); Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, Kentucky (L.C., H.W.); Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania (Z.V., K.C., M.N.N.); Cancer Research Informatics Shared Resource Facility, Markey Cancer Center, University of Kentucky, Lexington, Kentucky (I.H., E.B.D.); Department of Neurosurgery, University of Kentucky, Lexington, Kentucky (J.M.); Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, Kentucky (M.W.); Division of Biomedical Informatics, Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, Kentucky (E.B.D.).

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November 2014

Erlotinib, erlotinib-sulindac versus placebo: a randomized, double-blind, placebo-controlled window trial in operable head and neck cancer.

Clin Cancer Res 2014 Jun 11;20(12):3289-98. Epub 2014 Apr 11.

Authors' Affiliations: Division of Head and Neck Surgery, Department of Otolaryngology, Oregon Health and Science University, Portland, Oregon; Division of Hematology/Oncology, Department of Internal Medicine; Department of Pharmacology and Chemical Biology;Biostatistics Facility, University of Pittsburgh, University of Pittsburgh Cancer Institute; Departments of Otolaryngology and Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania; Department of Otolaryngology, University of Kansas Medical Center, Kansas City, Kansas; Women's Health Integrated Research Center, Gynecologic Cancer Center of Excellence, Annandale, Virginia; Division of Hematology/Oncology, Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, Texas; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts; and Department of Pharmacology, University of Minnesota, Minneapolis, Minnesota.

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June 2014

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

Proc Natl Acad Sci U S A 2014 Mar 3;111(11):4233-8. Epub 2014 Feb 3.

Department of Pathology and Laboratory Medicine, Department of Pharmacology and Chemical Biology, Department of Otolaryngology, Department of Surgery, Division of Endocrine Surgery, and Department of Medicine, Division of Endocrinology and Metabolism, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213.

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March 2014

Correlation of cytomorphology and molecular findings in EGFR+, KRAS+, and ALK+ lung carcinomas.

Am J Clin Pathol 2014 Mar;141(3):420-8

Dept of Pathology, University of Pittsburgh Medical Center, 5150 Centre Ave, PO Box 2, Suite 201, Pittsburgh, PA 15232;

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March 2014

Present and future molecular testing of lung carcinoma.

Adv Anat Pathol 2014 Mar;21(2):94-9

Department of Pathology, University of Pittsburgh, Pittsburgh, PA.

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March 2014

MicroRNA profile of poorly differentiated thyroid carcinomas: new diagnostic and prognostic insights.

J Mol Endocrinol 2014 Apr 6;52(2):181-9. Epub 2014 Mar 6.

Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA Institute of Pathology, University of Bern, Murtenstrasse 31, 3010 Bern, Switzerland Institute of Surgical Pathology, University Hospital Zurich, 8091 Zurich, Switzerland Institute of Surgical Pathology, Triemlispital Zurich, 8063 Zurich, Switzerland.

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April 2014

Human papillomavirus-associated adenocarcinoma of the base of tongue: potentially actionable genetic changes.

Head Neck Pathol 2014 Jun 21;8(2):151-6. Epub 2013 Nov 21.

Department of Pathology, University of Pittsburgh Medical Center, 200 Lothrop St, Pittsburgh, PA, 15213, USA.

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June 2014

SeqReporter: automating next-generation sequencing result interpretation and reporting workflow in a clinical laboratory.

J Mol Diagn 2014 Jan 9;16(1):11-22. Epub 2013 Nov 9.

Division of Molecular and Genomic Pathology, Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania. Electronic address:

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January 2014

Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer.

J Clin Endocrinol Metab 2013 Nov 26;98(11):E1852-60. Epub 2013 Aug 26.

Division of Molecular and Genomic Pathology, Department of Pathology, University of Pittsburgh, 200 Lothrop Street, Pittsburgh, Pennsylvania 15261.

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November 2013

Clinicopathologic features of synchronous colorectal carcinoma: A distinct subset arising from multiple sessile serrated adenomas and associated with high levels of microsatellite instability and favorable prognosis.

Am J Surg Pathol 2013 Nov;37(11):1660-70

*Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA †Department of Radiation Oncology, Stanford University, Stanford, CA.

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November 2013

Molecular and histopathologic characteristics of multifocal papillary thyroid carcinoma.

Am J Surg Pathol 2013 Oct;37(10):1586-91

Departments of *Pathology and Laboratory Medicine †Otolaryngology, Head Neck Surgery ‡Division of Endocrine Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA.

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October 2013

Comprehensive MicroRNA expression profiling identifies novel markers in follicular variant of papillary thyroid carcinoma.

Thyroid 2013 Nov 19;23(11):1383-9. Epub 2013 Sep 19.

1 Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center , Pittsburgh, Pennsylvania.

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November 2013

New strategies in diagnosing cancer in thyroid nodules: impact of molecular markers.

Clin Cancer Res 2013 May 19;19(9):2283-8. Epub 2013 Feb 19.

Department of Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA.

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May 2013

LOH in the HLA class I region at 6p21 is associated with shorter survival in newly diagnosed adult glioblastoma.

Clin Cancer Res 2013 Apr 11;19(7):1816-26. Epub 2013 Feb 11.

Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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April 2013

A novel COLD-PCR/FMCA assay enhances the detection of low-abundance IDH1 mutations in gliomas.

Diagn Mol Pathol 2013 Mar;22(1):28-34

Division of Molecular Anatomic Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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March 2013

MicroRNA expression array identifies novel diagnostic markers for conventional and oncocytic follicular thyroid carcinomas.

J Clin Endocrinol Metab 2013 Jan 12;98(1):E1-7. Epub 2012 Nov 12.

Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA.

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January 2013

Prospective testing of mucoepidermoid carcinoma for the MAML2 translocation: clinical implications.

Laryngoscope 2012 Aug;122(8):1690-4

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

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August 2012

Homologous chromosomes make contact at the sites of double-strand breaks in genes in somatic G0/G1-phase human cells.

Proc Natl Acad Sci U S A 2012 Jun 29;109(24):9454-9. Epub 2012 May 29.

Department of Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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June 2012

Cytomorphological and molecular genetic findings in pediatric thyroid fine-needle aspiration.

Cancer Cytopathol 2012 Oct 17;120(5):342-50. Epub 2012 May 17.

Department of Pathology, University of Pittsburgh Medical Center, Pennsylvania, USA.

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October 2012

Interplay among BRAF, p16, p53, and MIB1 in pediatric low-grade gliomas.

Neuro Oncol 2012 Jun 5;14(6):777-89. Epub 2012 Apr 5.

Department of Pathology, University of Kentucky, MS-155, 800 Rose Street, Lexington, KY 40536, USA.

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June 2012