title: Transplantation for juvenile myelomonocytic leukemia: a retrospective study of 30 children treated with a regimen of busulfan, fludarabine, and melphalan.
abstract: We report the outcomes of 30 patients with juvenile myelomonocytic leukemia (JMML) who received unmanipulated hematopoietic stem cell transplantation (HSCT) with oral or intravenous busulfan, fludarabine, and melphalan between 2001 and 2011. Mutations in PTPN11 were detected in 15 patients. Six patients received human leukocyte antigen (HLA)-matched HSCT from related donors, and 24 patients received HSCT from alternative donors, including 13 HLA-mismatched donors. Primary engraftment failed in five patients, all of whom had received allografts from HLA-mismatched donors. HLA-mismatched HSCT resulted in poorer event-free survival than HLA-matched HSCT (28.8 vs. 70.6 %). Three patients died of transplantation-related causes, and eight patients experienced hematological relapse (including five patients who died due to disease progression). Eight patients received a second HSCT, and four of these patients have survived. The 5-year estimated overall survival for all patients was 72.4: 88.9 % for the patients without a mutation in PTPN11 (n = 10) and 58.3 % for the patients with a mutation in PTPN11 (n = 15) (P = 0.092). The conditioning regimen reported in the present study achieved hematological and clinical remission in >50 % of patients with JMML who received HSCT from alternative donors, and may also be effective for JMML patients with PTPN11 mutation.
authors.affiliation: Department of Cell Transplantation and Regenerative Medicine, Tokai University Hospital, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan, miharu@is.icc.u-tokai.ac.jp.
authors.forename: Miharu
authors.initials: M
authors.lastname: Yabe
authors.forename: Yoshitoshi
authors.initials: Y
authors.lastname: Ohtsuka
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Jiro
authors.initials: J
authors.lastname: Inagaki
authors.forename: Nao
authors.initials: N
authors.lastname: Yoshida
authors.forename: Kazuo
authors.initials: K
authors.lastname: Sakashita
authors.forename: Harumi
authors.initials: H
authors.lastname: Kakuda
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Yabe
authors.forename: Hidemitsu
authors.initials: H
authors.lastname: Kurosawa
authors.forename: Kazuko
authors.initials: K
authors.lastname: Kudo
authors.forename: Atsushi
authors.initials: A
authors.lastname: Manabe
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects / Q000627:therapeutic use; D002066:Busulfan / Q000008:administration & dosage; D002648:Child; D002675:Child, Preschool; D005260:Female; D006086:Graft vs Host Disease / Q000209:etiology / Q000517:prevention & control; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D054429:Leukemia, Myelomonocytic, Juvenile / Q000150:complications / Q000401:mortality / Q000628:therapy*; D008297:Male; D008558:Melphalan / Q000008:administration & dosage; D019233:Retreatment; D012189:Retrospective Studies; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D014740:Vidarabine / Q000008:administration & dosage / Q000031:analogs & derivatives
chemical_list: D014740:Vidarabine; D002066:Busulfan; C024352:fludarabine; D008558:Melphalan