Srpski arhiv za celokupno lekarstvo 2015 Volume 143, Issue 1-2, Pages: 63-67
https://doi.org/10.2298/SARH1502063D
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Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: Case report
Džoljić Eleonora (School of Medicine, Belgrade + Clinical Center of Serbia, Clinic of Neurology, Belgrade)
Stošić-Opinćal Tatjana (School of Medicine, Belgrade + Clinical Center of Serbia, MR Centre, Belgrade)
Skender-Gazibara Milica (School of Medicine, Institute of Pathology, Belgrade)
Terzić Tatjana (School of Medicine, Institute of Pathology, Belgrade)
Mihaljević Biljana (School of Medicine, Belgrade + Clinical Center of Serbia, Clinic of Hematology, Belgrade)
Milivojević Goran (School of Medicine, Belgrade + Clinical Center of Serbia, Clinic of Hematology, Belgrade)
Kostić Vladimir (School of Medicine, Belgrade + Clinical Center of Serbia, Clinic of Neurology, Belgrade)
Introduction. We represent the unique occurrence of primary central nervous
system lymphoma (PCNSL) in a patient whose brother died of genetically
confirmed hemophagocytic lymphohistiocytosis (HLH). Case Outline. 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. Conclusion. 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.
Keywords: primary aggressive diffuse large B-cell CNS lymphoma, hemophagocytic lymphohistiocytosis, perforin mutation
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