[Severe MDA5 dermatomyositis associated with cancer and controlled by JAK inhibitor]

Rev Med Interne. 2020 Jun;41(6):421-424. doi: 10.1016/j.revmed.2020.02.015. Epub 2020 Mar 17.
[Article in French]

Abstract

Dermatomyositis is an idiopathic inflammatory myopathy with various clinical and serological profiles, including poor prognosis forms for which aggressive immunosuppressive treatment is warranted. We report the case of a 60-year-old woman referred to our hospital for an anti-melanoma differentiation-associated 5 gene antibody-positive dermatomyositis (MDA5 DM) with rapidly progressive interstitial pneumonia, typical cutaneous features and muscular impairment. Treatment with high-dose methylprednisolone, cyclophosphamide and gamma globulin was performed, but the patient remained corticodependant. Blood detection of positive interferon signature justified the administration of an anti-JAK1/2, leading to the clinical remission and the regression of the interferon signature. After 12 months of follow up, a small cell carcinoma was discovered, raising the question of a paraneoplastic syndrome, for which the most recent datas are quite reassuring for this kind of MDA5 DM. The presentation of this case is of twofold interest: describing one of the first report of successful treatment of intereronopathy MDA5 DM with ruxolitinib and highlighting an association with a cancer, which is not expected for this phenotype of dermatomyositis.

Keywords: Anti-MDA5 antibody; Anticorps anti-MDA5; Carcinome bronchique à petites cellules; Dermatomyosite; Dermatomyositis; Interstitial lung disease; Pneumopathie interstitielle; Ruxolitinib; Small cell lung carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Autoantibodies / adverse effects*
  • Dermatomyositis / diagnosis
  • Dermatomyositis / drug therapy*
  • Dermatomyositis / immunology
  • Fatal Outcome
  • Female
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Interferon-Induced Helicase, IFIH1 / immunology*
  • Janus Kinase Inhibitors / therapeutic use*
  • Liver Neoplasms / drug therapy
  • Liver Neoplasms / immunology
  • Liver Neoplasms / secondary
  • Lung Neoplasms / complications
  • Lung Neoplasms / drug therapy
  • Lung Neoplasms / immunology
  • Lung Neoplasms / pathology
  • Middle Aged
  • Paraneoplastic Syndromes / diagnosis
  • Paraneoplastic Syndromes / drug therapy*
  • Paraneoplastic Syndromes / immunology
  • Severity of Illness Index
  • Small Cell Lung Carcinoma / complications
  • Small Cell Lung Carcinoma / drug therapy
  • Small Cell Lung Carcinoma / immunology
  • Small Cell Lung Carcinoma / pathology

Substances

  • Autoantibodies
  • Immunosuppressive Agents
  • Janus Kinase Inhibitors
  • IFIH1 protein, human
  • Interferon-Induced Helicase, IFIH1