Molecular Genetics in the Diagnosis and Biology of Lymphoid Neoplasms

2017 Society for Hematopathology/European Association for Haematopathology Workshop Report

Megan S. Lim, MD, PhD; Nathanael G. Bailey, MD; Rebecca L. King, MD; Miguel Piris, MD


Am J Clin Pathol. 2019;152(3):277-301. 

In This Article

Abstract and Introduction


Objectives: The 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology reviewed the role of molecular genetics in the diagnosis and biology of lymphoid neoplasms.

Methods: The Workshop Panel reviewed 82 cases.

Results: Molecular genetic testing reveals alterations that expand the spectrum of diseases such as DUSP22 rearrangement in ALK-negative anaplastic large cell lymphoma, large B-cell lymphoma with IRF4 rearrangement, MYD88 mutations in B-cell lymphomas, Burkitt-like lymphoma with 11q aberrations, and diagnostic criteria for high-grade B-cell lymphomas. Therapeutic agents and natural tumor progression may be associated with transcriptional reprogramming that lead to transdifferentiation and lineage switch.

Conclusions: Application of emerging technical advances has revealed the complexity of genetic events in lymphomagenesis, progression, and acquired resistance to therapies. They also contribute to enhanced understanding of the biology of indolent vs aggressive behavior, clonal evolution, tumor progression, and transcriptional reprogramming associated with transdifferentiation events that may occur subsequent to therapy.


Drs Lim, Bailey, King, and Piris chaired the workshop sessions on "Molecular Genetics in the Diagnosis and Biology of Lymphoid Neoplasms." Based on the cases that were submitted, the aim of the workshop sessions (session 2 and 8) were to review molecular genetic features that contribute to the diagnosis of lymphoid neoplasms and to describe how traditional and emerging technologies expand on our understanding of the biologic aspects of these heterogeneous lymphoid neoplasms. The workshop accepted 82 submissions of B-cell, T-cell, natural killer (NK)-cell neoplasms, which were grouped into major diagnostic categories of small B-cell lymphoma, aggressive B-cell lymphoma, mature T/NK-cell lymphoma/leukemia, Hodgkin lymphoma, and histiocytic neoplasms. Of these, 13 cases were presented at the workshop during sessions 2 and 8, which served to highlight both classic and unusual genetic features of a variety of lymphoid neoplasms.