Search Results

You are looking at 1 - 6 of 6 items for :

  • "result interpretation" x
  • Refine by Access: All x
Clear All
Full access

An Unexpected Diagnosis Uncovered by Quantitative Molecular Findings: A Case Report

Alessia Buglioni, Ruifeng Guo, Kandelaria M. Rumilla, Mark A. Edgar, Svetomir N. Markovic, and Gang Zheng

A 74-year-old male presented with rectal pain; workup uncovered an anal mass, and a diagnosis of melanoma was rendered via histologic examination and immunohistochemical (IHC) studies. Droplet digital PCR (ddPCR)–based BRAF testing was performed and revealed the presence of BRAF V600E, which is a common targetable genetic alteration in melanoma. Interestingly, the ratio of mutant to wild-type copy number was low (0.3%), whereas tumor cell percentage on tissue slides was 90%. With additional workup, BRAF V600E IHC confirmed a very small subset of BRAF V600E–positive cells, and a next-generation sequencing (NGS) panel revealed a pathogenic KIT variant, p.L576P, with an allele frequency of 63%. It was initially hypothesized that the main driver of the melanoma was the KIT alteration, whereas a small subclone (not detected by NGS, which has a 5% limit of detection) was driven by the BRAF V600E detected by ddPCR. To determine whether there were morphologic differences between the 2 clones, a careful review of the histology was performed and revealed distinct morphology of the BRAF V600E–positive cells, including pale cytoplasm, nuclear grooves, and infiltrating eosinophils. Additional IHC workup of the BRAF V600E–positive cells showed coexpression of CD1a, Langerin, and S100, diagnostic of Langerhans cell histiocytosis (LCH). This diagnosis was unexpected and would have been missed without highly sensitive molecular testing; yet it is of clinical importance for the patient. This case raises interesting biology questions regarding the relationship between melanoma and LCH; moreover, it highlights the importance of integrating quantitative information in molecular data interpretation.

Full access

QIM21-083: Quantitative Evaluation of Methods Designed to Improve the Accuracy and Quality of Multi-Gene Panel Testing for Hereditary Cancer

Carolyn Horton, Holly LaDuca, Lily Hoang, Elizabeth Chao, Jill Dolinsky, Jefferey Chen, Adam Chamberlin, and Rachid Karam

designed to mitigate inherent limitations of NGS-based assays and improve results interpretation; however, few efforts have been made to quantify the effect these methods have on genetic test results at the patient level. We aim to determine the clinical

Full access

Point: Chemosensitivity Assays Have a Role in the Management of Recurrent Ovarian Cancer

Julian C. Schink and Larry J. Copeland

testing with careful quality control, and computer-assisted image analysis and result interpretation. The different assays are distinguished by their criteria for measuring drug effect. The ATP luminescence assay measures the effect of treatment on the ATP

Full access

Gene Panel Testing for Inherited Cancer Risk

Michael J. Hall, Andrea D. Forman, Robert Pilarski, Georgia Wiesner, and Veda N. Giri

laboratories for the same mutation may receive differing result interpretations, leading to confusion in cancer risk management. A final important risk of gene panel testing is the higher rates of identifying VUS currently associated with these newer tests

Full access

A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer

Deborah Cragun, Anne Weidner, Ann Tezak, Brenda Zuniga, Georgia L. Wiesner, and Tuya Pal

streamline the delivery of cancer genetic risk assessment and counseling services while maximizing the benefits of tailored posttest GC discussion, including results interpretation and guidance on medical management. Acknowledgments We thank Courtney Lewis

Full access

Prostate Cancer Early Detection, Version 2.2015

Peter R. Carroll, J. Kellogg Parsons, Gerald Andriole, Robert R. Bahnson, Daniel A. Barocas, Erik P. Castle, William J. Catalona, Douglas M. Dahl, John W. Davis, Jonathan I. Epstein, Ruth B. Etzioni, Thomas Farrington, George P. Hemstreet III, Mark H. Kawachi, Paul H. Lange, Kevin R. Loughlin, William Lowrance, Paul Maroni, James Mohler, Todd M. Morgan, Robert B. Nadler, Michael Poch, Chuck Scales, Terrence M. Shaneyfelt, Marc C. Smaldone, Geoffrey Sonn, Preston Sprenke, Andrew J. Vickers, Robert Wake, Dorothy A. Shead, and Deborah Freedman-Cass

specificity. These tests and PCA3 are also options in men being considered for repeat biopsy after an initially benign result. Interpretation of Biopsy Results Cancer: Patients diagnosed with prostate cancer by biopsy should be managed according