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MYC Alteration by Chromothripsis Event in Aggressive High-Grade B-Cell Lymphoma Negative by Conventional Fluorescence In Situ Hybridization Analysis

A Case Report

Sukhanova, Madina PhD*; Van Slambrouck, Charles MD; Yap, Kai Lee PhD*; Smith, Sonali M. MD; Gurbuxani, Sandeep MD, PhD§; Venkataraman, Girish MD§

doi: 10.1097/PCR.0000000000000342
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Double-hit and double-expressor phenotypes in lymphomas are characterized by activation of the expression of the MYC and BCL2 genes through diverse mechanisms including chromosomal translocations and amplifications. Herein, we report a high-grade B-cell lymphoma in a patient with evidence for a chromothripsis event (via chromosomal microarray methodology) at chromosome 8, resulting in a focal copy number gain of the MYC locus, not detected by conventional fluorescence in situ hybridization for MYC despite strong MYC expression by immunohistochemical analysis. Chromosome analysis from the biopsy was not successful because of an extensive tissue necrosis. Chromothripsis is suggested as another mechanism for the activation of MYC in non-Hodgkin lymphoma, resulting in aggressive disease course, and this case underscores the need for chromosomal microarray testing in select cases to identify aggressive biology.

From the *Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago

Advocate South Suburban Hospital, Hazel Crest

Departments of Medicine

§Pathology, University of Chicago, Chicago, Illinois.

Reprints: Girish Venkataraman, MD, Department of Pathology, University of Chicago, 5841 S Maryland Ave, Chicago, IL 60637. E-mail: girish.venkataraman@uchospitals.edu.

The authors have no funding or conflicts to declare.

© 2019 Lippincott Williams & Wilkins, Inc.