title: Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: case report.
abstract: BACKGROUND
  We represent the unique occurrence of primary central nervous system lymphoma (PCNSL) in a patient whose brother died of genetically confirmed hemophagocytic lymphohistiocytosis (HLH).
  
  
  METHODS
  We report a case of a 25-year-old male patient with primary aggressive diffuse large B-cell lymphoma affecting the brain and PCNSL. Despite one year of medical treatment outcome was lethal. However, our patient had a relatively longer survival compared to median survival time for PCNSL. Additionally, he had two older brothers who died at the age of about 11 years. One died of fulminate malignancy, shortly after pediatric admission, before the diagnosis could be established. The other one died from genetically confirmed (perforin mutation/PRF1) HLH. Our patient was heterozygous carrier of perforin mutation representing the genetic marker for HLH. Our patient's father was the carrier of the same mutation but had no symptoms of any disease.
  
  
  CONCLUSIONS
  This case points at the presence of HLH and diffuse large B-cell PCNSL in brothers. Extensive assessment of patients with probable PCNSL and familial HLH is necessary, including genetic analysis for HLH.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Džoljić
authors.forename: Tatjana
authors.initials: T
authors.lastname: Stošić-Opinćal
authors.forename: Milica
authors.initials: M
authors.lastname: Skender-Gazibara
authors.forename: Tatjana
authors.initials: T
authors.lastname: Terzić
authors.forename: Biljana
authors.initials: B
authors.lastname: Mihaljević
authors.forename: Goran
authors.initials: G
authors.lastname: Milivojević
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostić
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics; D008223:Lymphoma / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D054353:Perforin / Q000235:genetics; D035781:Siblings
chemical_list: D054353:Perforin