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STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature

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Abstract

Aberrations of the STK4 gene in humans result in an autosomal recessively inherited primary immunodeficiency. We identified three patients with STK4 deficiency who had presented to our hospital and reviewed their biopsy samples with the goal of detailing the characteristics of STK4 deficiency from a pathology perspective. Case 1 was a 20-year-old male who presented with cervical and supraclavicular lymphadenopathy which showed plasmacytic hyperplasia and a concurrent bronchial mass, with AA amyloidosis and EBV-associated “polymorphic lymphoproliferative disorder (LPD) resembling polymorphic post-transplant LPD.” The second case was an 8-year-old girl with abdominal lymphadenopathy; biopsy revealed a complex lymphoproliferation which consisted of EBV-associated “polymorphic LPD resembling polymorphic post-transplant LPD,” plasmacytic hyperplasia, granulomatous reaction, and a CD4- and PD-1-positive clonal T cell proliferation. The third was a 15-year-old girl with a laryngeal mass, representing a high-grade B cell lymphoma with prominent plasmacytic differentiation. Our cases emphasize the complex and challenging histopathology of lymphoid proliferations in patients with STK4 deficiency.

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Data availability

The datasets (paraffin blocks and stained slides of the cases) analyzed during the current study are available from the corresponding author on reasonable request.

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Authors and Affiliations

  1. Department of Pathology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey

    Arzu Saglam, Sehbal Arslankoz, Kubra Katipoglu & Aysegul Uner

  2. Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey

    Deniz Cagdas

  3. Department of Pediatric Oncology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey

    Burca Aydin

  4. Department of Pediatric Immunology, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey

    Sevgi Keles & Ismail Reisli

Authors
  1. Arzu Saglam
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  2. Deniz Cagdas
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  4. Sevgi Keles
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  6. Sehbal Arslankoz
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  7. Kubra Katipoglu
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  8. Aysegul Uner
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Contributions

Arzu Saglam: writing—data curation, original draft preparation, visualization; Deniz Cagdas: writing—data curation, review and editing; Burca Aydin: writing—data curation, review and editing; Sevgi Keles: writing—data curation, review and editing; Ismail Reisli: data curation, review and editing; Sehbal Arslankoz: data curation, visualization; Kubra Katipoglu: data curation, visualization; Aysegul Uner: conceptualization, supervision, writing—review and editing.

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Correspondence to Aysegul Uner.

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Saglam, A., Cagdas, D., Aydin, B. et al. STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature. Virchows Arch 480, 393–401 (2022). https://doi.org/10.1007/s00428-021-03147-w

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  • DOI: https://doi.org/10.1007/s00428-021-03147-w

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