Molecular and Genomic Landscape of Peripheral T-Cell Lymphoma

  • Javeed Iqbal
  • Catalina Amador
  • Timothy W. McKeithan
  • Wing C. ChanEmail author
Part of the Cancer Treatment and Research book series (CTAR, volume 176)


Peripheral T-cell lymphoma (PTCL) is an uncommon group of lymphoma covering a diverse spectrum of entities. Little was known regarding the molecular and genomic landscapes of these diseases until recently but the knowledge is still quite spotty with many rarer types of PTCL remain largely unexplored. In this chapter, the recent findings from gene expression profiling (GEP) studies, including profiling data on microRNA, where available, will be presented with emphasis on the implication on molecular diagnosis, prognostication, and the identification of new entities (PTCL-GATA3 and PTCL-TBX21) in the PTCL-NOS group. Recent studies using next-generation sequencing have unraveled the mutational landscape in a number of PTCL entities leading to a marked improvement in the understanding of their pathogenesis and biology. While many mutations are shared among PTCL entities, the frequency varies and certain mutations are quite unique to a specific entity. For example, TET2 is often mutated but this is particularly frequent (70-80%) in angioimmunoblastic T-cell lymphoma (AITL) and IDH2 R172 mutations appear to be unique for AITL. In general, chromatin modifiers and molecular components in the CD28/T-cell receptor signaling pathways are frequently mutated. The major findings will be summarized in this chapter correlating with GEP data and clinical features where appropriate. The mutational landscape of cutaneous T-cell lymphoma, specifically on mycosis fungoides and Sezary syndrome, will also be discussed.


Peripheral T-cell lymphoma Gene expression profiling Mutational landscape Pathogenesis Biology Mycosis fungoides Sezary syndrome 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Javeed Iqbal
    • 1
  • Catalina Amador
    • 1
  • Timothy W. McKeithan
    • 2
  • Wing C. Chan
    • 2
    Email author
  1. 1.Pathology and MicrobiologyUniversity of Nebraska Medical CenterOmahaUS
  2. 2.Department of PathologyCity of Hope National Medical CenterDuarteUSA

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