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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

 Kyung-Nam Koh  ;  Ho Joon Im  ;  Nak-Gyun Chung  ;  Bin Cho  ;  Hyoung Jin Kang  ;  Hee Young Shin  ;  Chuhl Joo Lyu  ;  Keon Hee Yoo  ;  Hong Hoe Koo  ;  Hee-Jin Kim  ;  Hee Jo Baek  ;  Hoon Kook  ;  Hoi Soo Yoon  ;  Young Tak Lim  ;  Heung Sik Kim  ;  Kyung Ha Ryu  ;  Jong Jin Seo  ;  Korea Histiocytosis Working Party 
 EUROPEAN JOURNAL OF HAEMATOLOGY, Vol.94(1) : 51-59, 2014 
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allogeneic hematopoietic stem cell transplantation ; genetic mutation ; hemophagocytic lymphohistiocytosis ; prognostic factors ; survival
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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Lyu, Chuhl Joo(유철주) ORCID logo https://orcid.org/0000-0001-7124-7818
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