Article

Case Report

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.

A Rare Case of Transformation of Childhood Myelodysplastic Syndrome to Acute Lymphoblastic Leukemia

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

Received: November 17, 2011; Revised: September 24, 2012; Accepted: December 14, 2012

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.

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.

Keywords: Myelodysplastic syndromes, Acute lymphoblastic leukemia, Cytogenetic aberrations, Microarray analysis