Peripheral T-cell lymphoma emerging in a patient with aggressive polymyositis: Molecular evidence for neoplastic transformation of an oligoclonal T-cell infiltrate

Nadejda M. Tsankova*, Carolyn Bevan, Vaidehi Jobanputra, Yen Chen Kevin Ko, Elizabeth W. Mayer, Jay H. Lefkowitch, Mahesh Mansukhani, Lewis P. Rowland, Govind Bhagat, Kurenai Tanji

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

We report a rare case of peripheral T-cell lymphoma arising in a 52-year-old man with biopsy-proven aggressive polymyositis, who had cardiac involvement, progressive bulbar symptoms, and died 11 months post diagnosis due to multiorgan failure. Using a multimodality approach including immunohistochemistry, genome-wide single nucleotide polymorphism (SNP)-array analysis, and high-throughput sequencing of the complementary determining region 3 (CDR3) of T-cell receptor beta (TCRβ) genes, our study demonstrates a molecular link between polymyositis and T-cell lymphoma, and provides evidence of the rapid and possibly late occurrence of genomic instability during neoplastic transformation of an oligoclonal T-cell population. Immunohistochemical analysis revealed loss of CD5, CD7, and CD8 antigen expression in autopsy tissue samples, as well as the occurrence of aberrant CD56 expression, not seen in pre-mortem biopsies, supporting the emergence of a neoplastic T-cell population. Multiplex polymerase chain reaction and next-generation sequencing of the TCRβ CDR3 region displayed two unique T-cell clones in both the diagnostic biopsy confirming polymyositis and the autopsy muscle tissue exhibiting T-cell lymphoma, linking the two pathological processes. SNP-array analysis revealed complex genomic abnormalities at autopsy but not in the pre-mortem muscle biopsies displaying polymyositis, confirming malignant transformation of the oligoclonal T-cell infiltrate. Our findings raise the possibility that clinically aggressive polymyositis might represent a preneoplastic condition in some instances, similar to certain other autoimmune and inflammatory disorders.

Original languageEnglish (US)
Pages (from-to)595-601
Number of pages7
JournalActa Neuropathologica
Volume126
Issue number4
DOIs
StatePublished - Oct 2013

Keywords

  • Inflammatory myopathy
  • Oligoclonal
  • Polymyositis
  • SNP-array
  • T-cell lymphoma
  • TCR next-generation sequencing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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