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


Saglam A., Cagdas D. N., Aydin B., Keles S., Reisli I., Arslankoz S., ...Daha Fazla

Virchows Archiv : an international journal of pathology, cilt.480, sa.2, ss.393-401, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 480 Sayı: 2
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1007/s00428-021-03147-w
  • Dergi Adı: Virchows Archiv : an international journal of pathology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.393-401
  • Anahtar Kelimeler: STK4, Plasma cell, Immunodeficiency, Lymphoma, EBV, Lymphoproliferative disorder, PLASMACYTIC HYPERPLASIA, MST1, IMMUNODEFICIENCY
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.