Publications by authors named "Beth Pitel"

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Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TSO500 Kit.
Stephanie A Smoley, Gopinath Sivasankaran, Mallika Gandham, Beth A Pitel, Shannon M Knight

J Mol Diagn· December 2025

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Comparison of somatic variant oncogenicity classification using ClinGen/CGC/VICC guidelines and QIAGEN Clinical Insight Interpret decision support software.
Aarthi Goverdhan, Lisa Mullineaux, Amber Pryzbylski, Claire Teigen, Kevin C Halling, Beth A Pitel

Cancer Genet· November 2025

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Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.
Sounak Gupta, Surendra Dasari, Rachel R Warren, Wei Shen, Rhianna M Urban, Beth A Pitel

Eur Urol· September 2025

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Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing.
Beth A Pitel, Saba Alvand, Mark A Montanari, Daniel R Sill, Carlos Sosa

J Mol Diagn· September 2025

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Salivary Oncocytic Intraductal Carcinoma of Harboring a Novel GAB1::FRK Gene Fusion.
Rumeal D Whaley, Christopher D Hofich, Kevin C Halling, Beth A Pitel

Head Neck Pathol· September 2025

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Expanding the spectrum of TERT promoter mutations in CNS tumors: A case series of non-canonical mutations.
David J Cook, Jorge A Trejo-Lopez, Beth A Pitel, Neiladri Saha, Tejaswi Koganti

J Neuropathol Exp Neurol· August 2025

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Genomic attributes of prostate cancer across primary and metastatic noncastrate and castrate resistant disease states: a next generation sequencing study of 183 patients.
Surendra Dasari, Michael R McCarthy, Antonina A Wojcik, Beth A Pitel, Arpan Samaddar

Prostate Cancer Prostatic Dis· June 2025

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Papillary thyroid carcinoma with amyloid-like deposition harboring a novel OCLN::PRKCI gene fusion.
Rumeal D Whaley, Beth A Pitel, Christopher D Hofich, Hussam Al-Kateb, Kevin C Halling

Hum Pathol· May 2025

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Clinical Validation of the TruSight Oncology 500 Assay for the Detection and Reporting of Pan-Cancer Biomarkers.
Hussam Al-Kateb, Shannon M Knight, Gopinath Sivasankaran, Jesse S Voss, Beth A Pitel

J Mol Diagn· April 2025

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-Rearranged Prostatic Acinar Adenocarcinoma: Report of a Patient and Review of the Literature.
Rumeal D Whaley, Burak Tekin, Michael R McCarthy, Hamid M Zia, Beth A Pitel

Int J Surg Pathol· February 2025

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SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas: A Description of the First 652 Cases.
Mazen A Atiq, Jagadheshwar Balan, Patrick R Blackburn, John M Gross, Jesse S Voss, Beth A Pitel

J Mol Diagn· January 2025

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Clinicopathologic and Molecular Characteristics of Resected Thoracic Mass Lesions in the Pediatric Population: A 25-Year Institutional Experience From a Tertiary Care Center.
Julian A Villalba, Simone Bsp Terra, Beth Pitel, Shannon M Knight, Benjamin R Kipp

Arch Pathol Lab Med· November 2024

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Next generation sequencing-based identification of fusion-driven renal neoplasia: A single institution experience.
Burak Tekin, Christopher D Hofich, Beth A Pitel, J Kenneth Schoolmeester, Rumeal D Whaley

Hum Pathol· October 2024

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Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia.
Beth A Pitel, Cinthya Zepeda-Mendoza, Zohar Sachs, Hongwei Tang, Suganti Shivaram

Blood Cancer J· September 2023

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Molecular and Immunophenotypic Correlates of Metastatic Epithelioid Angiomyolipoma Include Alterations of TP53, RB1, and ATRX.
Michael R McCarthy, Paige E Nichols, Vidit Sharma, Melissa L Stanton, Jordan P Reynolds, Beth A Pitel

Arch Pathol Lab Med· July 2023

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Optical genome mapping in acute myeloid leukemia: a multicenter evaluation.
Brynn Levy, Linda B Baughn, Yassmine Akkari, Scott Chartrand, Brandon LaBarge, Beth Pitel

Blood Adv· April 2023

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Mate Pair Sequencing: Next-Generation Sequencing for Structural Variant Detection.
Beth A Pitel, Eric Zimmerman Zuckerman, Linda B Baughn

Methods Mol Biol· April 2023

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A gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature.
Elise R Venable, Marie-France Gagnon, Beth A Pitel, Jeanne M Palmer, Jess F Peterson

Cold Spring Harb Mol Case Stud· February 2023

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Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group.
Alaa Koleilat, James B Smadbeck, Cinthya J Zepeda-Mendoza, Cynthia M Williamson, Beth A Pitel

Genes Chromosomes Cancer· December 2022

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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Peter Horak, Malachi Griffith, Arpad M Danos, Beth A Pitel, Subha Madhavan

Genet Med· September 2022

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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Peter Horak, Malachi Griffith, Arpad M Danos, Beth A Pitel, Subha Madhavan

Genet Med· May 2022

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Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.
Sounak Gupta, Lori A Erickson, Christine M Lohse, Wei Shen, Beth A Pitel

JAMA Netw Open· November 2021

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Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance.
Justin Anthony Chen, Yanli Hou, Krishna M Roskin, Daniel A Arber, Charles D Bangs, Beth A Pitel

Blood Adv· September 2021

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Re: Stanley Weng, Renzo G. DiNatale, Andrew Silagy, et al. The Clinicopathologic and Molecular Landscape of Clear Cell Papillary Renal Cell Carcinoma: Implications in Diagnosis and Management. Eur Urol 2021;79:468-77.
Sounak Gupta, Beth A Pitel, Shannon M Knight, Kevin C Halling, Rafael E Jimenez

Eur Urol· August 2021

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Myeloid malignancies with 5q and 7q deletions are associated with extreme genomic complexity, biallelic TP53 variants, and very poor prognosis.
Beth A Pitel, Neeraj Sharma, Cinthya Zepeda-Mendoza, James B Smadbeck, Kathryn E Pearce

Blood Cancer J· February 2021

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