Molecular Genetics in the Diagnosis and Biology of Lymphoid Neoplasms

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Article numberaqz078
Pages (from-to)277-301
Number of pages25
JournalAmerican journal of clinical pathology
Issue number3
StatePublished - Aug 1 2019


  • Diagnosis and biology
  • Lymphoma
  • Molecular genetics
  • Targeted therapy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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