Hematopoietic stem cell transplantation for familial hemophagocytic lymphohistiocytosis and Epstein–Barr virus‐associated hemophagocytic lymphohistiocytosis in Japan

Abstract Background Post‐transplant outcomes of hemophagocytic lymphohistiocytosis (HLH) patients were analyzed in Japan where Epstein–Barr virus (EBV)‐associated severe forms are problematic. Methods Fifty‐seven patients (43 familial HLH [12 FHL2, 11 FHL3, 20 undefined], 14 EBV‐HLH) who underwent stem cell transplantation (SCT) between 1995 and 2005 were enrolled based on the nationwide registration. Results Fifty‐seven patients underwent 61 SCTs, including 4 consecutive SCTs. SCTs were employed using allogeneic donors in 93% of cases (allo 53, twin 1, auto 3). Unrelated donor cord blood transplantation (UCBT) was employed in half of cases (21 FHL, 7 EBV‐HLH). Reduced intensity conditioning was used in 26% of cases. The 10‐year overall survival rates (median ± SE%) were 65.0 ± 7.9% in FHL and 85.7 ± 9.4% in EBV‐HLH patients, respectively. The survival of UCBT recipients was >65% in both FHL and EBV‐HLH patients. Three out of four patients were alive with successful engraftment after second UCBT. FHL patients showed a poorer outcome due to early treatment‐related deaths (<100 days, seven patients) and a higher incidence of sequelae than EBV‐HLH patients ( P = 0.02). The risk of death for FHL patients having received an unrelated donor bone marrow transplant was marginally higher than that for a related donor SCT ( P = 0.05) and that for UCBT ( P = 0.07). Conclusions EBV‐HLH patients had a better prognosis after SCT than FHL patients. FHL patients showed either an equal or better outcome even after UCBT compared with the recent reports. UCB might therefore be acceptable as an alternate SCT source for HLH patients, although the optimal conditioning remains to be determined. Pediatr Blood Cancer 2010;54:299–306. © 2009 Wiley‐Liss, Inc.