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10.1111/ejh.12399

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suck abstract from ncbi


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pmid24935083
      Eur+J+Haematol 2015 ; 94 (1 ): 51-9
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  • Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party #MMPMID24935083
  • Koh KN ; Im HJ ; Chung NG ; Cho B ; Kang HJ ; Shin HY ; Lyu CJ ; Yoo KH ; Koo HH ; Kim HJ ; Baek HJ ; Kook H ; Yoon HS ; Lim YT ; Kim HS ; Ryu KH ; Seo JJ
  • Eur J Haematol 2015[Jan]; 94 (1 ): 51-9 PMID24935083 show ga
  • BACKGROUND: We analyzed a nationwide registry of pediatric patients with hemophagocytic lymphohistiocytosis (HLH) in Korea to assess the clinical and genetic features and treatment outcomes in pediatric HLH. METHODS: The Korea Histiocytosis Working Party retrospectively analyzed data on 251 pediatric patients diagnosed with HLH between 1996 and 2011. RESULTS: In the study cohort, 25 cases were categorized with familial HLH, 64 with presumed secondary HLH, and 162 with unspecified HLH. Of 217 evaluable patients, 91 (42%) had concomitant Epstein-Barr virus infection. Of 238 evaluable patients, central nervous system (CNS) involvement, which was more frequent in the familial group, was evident in 81 cases (34%). Genetic tests revealed a predominant UNC13D mutation with a high incidence of two recurrent splicing mutations (c.118-308C>T and c.754-1G>C). The 5-yr overall survival rate was 68% (38% in the familial group and 81% in the presumed secondary group). The 5-yr overall survival rate among 32 patients who underwent allogeneic hematopoietic stem cell transplantation was 64%. In multivariate analysis, a younger age at diagnosis, severe transaminasemia, and a coagulation abnormality were independent prognostic factors for survival. Responses during initial treatments were also significant indicators of outcome. CONCLUSION: Our study showed the unique predominance of a UNC13D mutation and vulnerability to Epstein-Barr virus infection in Korean children with HLH and emphasizes the prognostic significance of age, liver dysfunction, and treatment responses in this disease. A multicenter prospective trial that builds on the present results is warranted to identify subgroups of patients with a poor prognosis and identify optimal treatments.
  • |Adolescent [MESH]
  • |Child [MESH]
  • |Child, Preschool [MESH]
  • |Female [MESH]
  • |Hematopoietic Stem Cell Transplantation [MESH]
  • |Humans [MESH]
  • |Infant [MESH]
  • |Infant, Newborn [MESH]
  • |Lymphohistiocytosis, Hemophagocytic/*diagnosis/epidemiology/*genetics/therapy [MESH]
  • |Male [MESH]
  • |Mutation [MESH]
  • |Patient Outcome Assessment [MESH]
  • |Prognosis [MESH]
  • |Public Health Surveillance [MESH]
  • |Registries [MESH]
  • |Republic of Korea/epidemiology [MESH]
  • |Retrospective Studies [MESH]
  • |Risk Factors [MESH]
  • |Transplantation, Homologous [MESH]


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