title: Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.
abstract: Juvenile myelomonocytic leukemia (JMML) appears to be a life-threatening disease and showed poor prognosis even after hematopoietic stem cell transplantation (HSCT) because of high relapse rate. On the other hand, recent molecular analysis revealed the heterogeneity of JMML. Here we report that two JMML patients survived >20 years without HSCT and both patients had uniparental disomy of 11q23 where CBL is located without the phenomenon found in neither Noonan syndrome nor Noonan syndrome-like disorder. We think that some JMML patients with CBL mutation might show the good prognosis in later life after remission of JMML.
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Muraoka
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Chiho
authors.initials: C
authors.lastname: Okuma
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Kiichiro
authors.initials: K
authors.lastname: Kanamitsu
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Hisashi
authors.initials: H
authors.lastname: Ishida
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Yui
authors.initials: Y
authors.lastname: Kanazawa
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Kana
authors.initials: K
authors.lastname: Washio
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Seki
authors.affiliation: Division of Leukemia and Lymphoma, Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Motohiro
authors.initials: M
authors.lastname: Kato
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Takita
authors.affiliation: Department of Tumor Biology, Faculty of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Department of Tumor Biology, Faculty of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Tsukahara
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.|Department of Pediatric Hematology/Oncology, Okayama University Hospital, Okayama, Japan.
authors.forename: Megumi
authors.initials: M
authors.lastname: Oda
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Akira
authors.identifier: http://orcid.org/0000-0001-5207-3779
authors.initials: A
authors.lastname: Shimada
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D019656:Loss of Heterozygosity; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D050721:Proto-Oncogene Proteins c-cbl / Q000235:genetics*; D016896:Treatment Outcome; D024182:Uniparental Disomy
chemical_list: D050721:Proto-Oncogene Proteins c-cbl