title: A rare case of transformation of childhood myelodysplastic syndrome to acute lymphoblastic leukemia.
abstract: Transformation of MDS into ALL during childhood is extremely rare. We report a rare case of an 8-yr-old girl who presented with refractory cytopenia of childhood (RCC) that transformed into ALL only 3 months after the diagnosis of childhood MDS. Although no cytogenetic abnormalities were observed in conventional karyotype and FISH analysis, we found several deletions on chromosomes 5q, 12q, 13q, and 22q. Partial homozygous deletion of the RB1 gene was observed on microarray analysis, with the bone marrow specimen diagnosed as ALL. This is the first case report of transformation of ALL from childhood MDS in Korea. We also compared the clinical, cytological, and cytogenetic features of 4 previously reported childhood MDS cases that transformed into ALL.
authors.affiliation: Department of Laboratory Medicine, Pusan National University School of Medicine and Pusan National University Hospital, Busan, Korea.
authors.forename: Young Rae
authors.initials: YR
authors.lastname: Koh
authors.forename: Eun Hae
authors.initials: EH
authors.lastname: Cho
authors.forename: Seong Shik
authors.initials: SS
authors.lastname: Park
authors.forename: Mi Young
authors.initials: MY
authors.lastname: Park
authors.forename: Sun Min
authors.initials: SM
authors.lastname: Lee
authors.forename: In Suk
authors.initials: IS
authors.lastname: Kim
authors.forename: Eun Yup
authors.initials: EY
authors.lastname: Lee
mesh_terms: D001854:Bone Marrow Cells / Q000473:pathology; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics; D016160:Retinoblastoma Protein / Q000235:genetics
chemical_list: D016160:Retinoblastoma Protein
keywords: Acute lymphoblastic leukemia; Cytogenetic aberrations; Microarray analysis; Myelodysplastic syndromes