Mutated cancer autoantigen implicated cause of paraneoplastic myasthenia gravis

Muscle Nerve. 2018 Oct;58(4):600-604. doi: 10.1002/mus.26166. Epub 2018 Aug 23.

Abstract

Introduction: Antitumor immune responses are postulated to initiate paraneoplastic neurological disorders when proteins that are normally restricted to neural cells are expressed as oncoproteins. Mutated oncopeptides could bypass self-tolerant T cells to activate cytotoxic effector T lymphocytes and requisite helper T lymphocytes to stimulate autoantibody production by B lymphocytes.

Methods: We investigated muscle-type nicotinic acetylcholine receptor (AChR) antigen expression at transcriptional and protein levels in a small-cell lung cancer line (SCLC) established from a patient with AChR-immunoglobulin G (IgG)-positive myasthenia gravis.

Results: We identified messenger RNA transcripts encoding the 2 AChR α1-subunit isoforms and 7 alternative-splicing products, 3 of which yielded premature stop codons. Despite detecting native muscle-type AChR pentamers in the tumor, we did not identify mutant α1-peptides. However, we found α1-subunit-derived peptides bound to tumor major histocompatibility complex (MHC)1-protein. In a control SCLC from an antineuronal nuclear autoantibody, type 1 (anti-Hu)-IgG-positive patient, we identified MHC1-complexed Hu protein-derived peptides but not AChR peptides.

Discussion: Our findings support onconeural protein products as pertinent immunogens initiating paraneoplastic neurological autoimmunity. Muscle Nerve 58: 600-604, 2018.

Keywords: cancer neoantigen; lung cancer; muscle acetylcholine receptor autoantibody; onconeural antigens; paraneoplastic autoimmunity; sensory neuronopathy.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Autoantigens / genetics*
  • Autoantigens / immunology
  • Case-Control Studies
  • Cell Line, Tumor
  • Female
  • Histocompatibility Antigens Class I / metabolism
  • Humans
  • Middle Aged
  • Mutation
  • Myasthenia Gravis / genetics*
  • Myasthenia Gravis / immunology
  • Paraneoplastic Polyneuropathy / genetics
  • Paraneoplastic Polyneuropathy / immunology
  • Paraneoplastic Syndromes, Nervous System / genetics*
  • Paraneoplastic Syndromes, Nervous System / immunology
  • RNA, Messenger / metabolism*
  • Receptors, Nicotinic / genetics*
  • Receptors, Nicotinic / immunology
  • Receptors, Nicotinic / metabolism

Substances

  • Autoantigens
  • CHRNA1 protein, human
  • Histocompatibility Antigens Class I
  • RNA, Messenger
  • Receptors, Nicotinic