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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

Title
Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party
Authors
Koh, Kyung-NamIm, Ho JoonChung, Nak-GyunCho, BinKang, Hyoung JinShin, Hee YoungLyu, Chuhl JooYoo, Keon HeeKoo, Hong HoeKim, Hee-JinBaek, Hee JoKook, HoonYoon, Hoi SooLim, Young TakKim, Heung SikRyu, Kyung HaSeo, Jong JinKorea Histiocytosis Working Party
Ewha Authors
유경하
SCOPUS Author ID
유경하scopus
Issue Date
2015
Journal Title
EUROPEAN JOURNAL OF HAEMATOLOGY
ISSN
0902-4441JCR Link1600-0609JCR Link
Citation
vol. 94, no. 1, pp. 51 - 59
Keywords
hemophagocytic lymphohistiocytosisgenetic mutationprognostic factorssurvivalallogeneic hematopoietic stem cell transplantation
Publisher
WILEY-BLACKWELL
Indexed
SCI; SCIE; SCOPUS WOS
Abstract
BackgroundWe 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. MethodsThe Korea Histiocytosis Working Party retrospectively analyzed data on 251 pediatric patients diagnosed with HLH between 1996 and 2011. ResultsIn 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. ConclusionOur 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.
DOI
10.1111/ejh.12399
Appears in Collections:
의과대학 > 의학과 > Journal papers
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