TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study
2025; 45(2): 160-169
Ann Lab Med 2013; 33(2): 130-135
Published online March 1, 2013 https://doi.org/10.3343/alm.2013.33.2.130
Copyright © Korean Society for Laboratory Medicine.
Young Rae Koh, M.D.1, Eun Hae Cho, M.D.2, Seong Shik Park, M.D.3, Mi Young Park, M.D.4, Sun Min Lee, M.D.4,5, In Suk Kim, M.D.1, and Eun Yup Lee, M.D.1
Department of Laboratory Medicine1, Pusan National University School of Medicine and Pusan National University Hospital, Busan; Greencross Reference Laboratory2, Yongin; Departments of Pediatrics3 and Laboratory Medicine4, Research Institute for Convergence of Biomedical Science and Technology5, Pusan National University Yangsan Hospital, Yangsan, Korea
Correspondence to: Sun Min Lee
Department of Laboratory Medicine, Pusan National University Yangsan Hospital, 20 Geumo-ro, Mulgeum-eup, Yangsan 626-770, Korea
Tel: +82-55-360-1875
Fax: +82-55-360-1880
E-mail: yaong97@paran.com
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: Myelodysplastic syndromes, Acute lymphoblastic leukemia, Cytogenetic aberrations, Microarray analysis