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1University of Belgrade, Serbia
2Clinical Center of Serbia, Serbia
3MR Centre, Serbia
*Corresponding author: Eleonora Džoljić, Neurology Clinic Clinical Center of Serbia, Faculty of Medicine University of Belgarde, Serbia
Submission: December 21, 2017;Published: February 02, 2018
Volume1 Issue2 February 2018
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
Ph.D in Agriculture from Faculty of Agriculture, Tohoku University
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Professor, Chief Doctor, Director of Department of Pediatric Surgery, Associate Director of Department of Surgery, Doctoral Supervisor Tongji hospital, Tongji medical college, Huazhong University of Science and Technology
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