Challenging Case Studies are presented by trainees or technologists. They will discuss the case's clinical history, molecular analysis, interesting features, and the proposed diagnosis. Other molecular testing methods, if applicable, will be included in the presentation, including biopsies, gross/microscopic pathology, immunohistochemistry/flow cytometry, and cytogenetic findings.
Ultra-hypermutated Pediatric Glioblastoma of Lynch Syndrome Mimicking Constitutional Mismatch Repair Deficiency Syndrome
Chen Yang, MD, PhD, Virginia Commonwealth University, Richmond, VA, USA
A Case of T-PLL with EZH2 Mutation; EZH2 the Sword or the Shield?
Panieh Terraf, PhD, Harvard Medical School - Brigham and Women's Hospital, Boston, MA, USA
Exome Reanalysis in a Patient with a Somatic CN-LOH in 17p and TP53 Mutation, and a Germline DNAJC21 Biallelic Mutation Associated with Myelodysplastic Susceptibility
Elan Hahn, MD, University of Toronto, Toronto, Ontario, Canada
Somatic Mosaic IDH1 Mutation in a Case of Maffucci Syndrome
Diana Bryk, MD, New York Presbyterian - Columbia, New York, NY, USA
Objectives:
- Describe the context of a challenging clinical case.
- Discuss the molecular pathology techniques used in the diagnosis of the case.
- Propose a final diagnosis based upon findings and diagnostic evidence.
Duration: 0.75 hr
Recording Date: November 7, 2019
CME/CMLE credit: 0.75 hr
Last day to purchase course and CE claim credit: December 24, 2022
