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Case report
DUSP22-IRF4 rearrangement in AIDS-associated ALK-negative anaplastic large cell lymphoma
  1. Mike Wang1,
  2. Nour Kibbi1,
  3. Nan Ring1,
  4. Alexa Siddon2,
  5. Francine Foss1,3 and
  6. Mariam Totonchy1
  1. 1 Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA
  2. 2 Laboratory Medicine and Pathology, Yale University School of Medicine, New Haven, Connecticut, USA
  3. 3 Hematology, Yale University School of Medicine, New Haven, Connecticut, USA
  1. Correspondence to Mike Wang, mike.wang{at}yale.edu

Abstract

Patients with AIDS have increased risk of developing lymphomas, such as anaplastic large cell lymphoma (ALCL), which generally carry a poor prognosis. The DUSP-IRF4 genetic rearrangement in ALCL confers a favourable prognosis in HIV-negative patients; it is unknown how this interacts clinically with HIV/AIDS. A man aged 53 years presented with subcutaneous nodules on the scalp and axillae, and diffuse lymphadenopathy. Biopsy of subcutaneous nodule and lymph node showed large atypical anaplastic lymphocytes which were CD30+ and anaplastic lymphoma kinase-negative, consistent with primary systemic ALCL. In addition, he was found to be HIV-positive and diagnosed with AIDS. Genetic testing of the tissue revealed a DUSP22-IRF4 rearrangement. Complete remission was achieved with HyperCVAD and subsequent brentuximab vedotin monotherapy. We report a case of AIDS-associated primary systemic ALCL with a DUSP22-IRF4 rearrangement. AIDS-associated ALCL is an aggressive lymphoma, with a poor prognosis. However, the presence of the genetic rearrangement, previously unseen in this disease, drastically altered the disease course. This case highlights the value of genetic testing and identifies DUSP22-IRF4-associated ALCL in the setting of HIV-associated lymphoproliferative disorders.

  • cancer intervention
  • dermatology
  • genetics
  • HIV/aids
  • haematology (incl blood transfusion)
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Footnotes

  • Contributors MW, NK, NR, MT and FF conceived of the case report. MW interviewed the patient for the patient’s perspective and obtained consent. NK, NR, MT and FF provided clinical data of the patient. AS provided the pathology photos and descriptions. MW wrote the first draft of the manuscript. All authors contributed to critically revising and approval of the manuscript prior to submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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