Ann Lab Med.  2013 Mar;33(2):130-135. 10.3343/alm.2013.33.2.130.

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

Affiliations
  • 1Department of Laboratory Medicine, Pusan National University School of Medicine and Pusan National University Hospital, Busan, Korea.
  • 2Greencross Reference Laboratory, Yongin, Korea.
  • 3Department of Pediatrics, Pusan National University Yangsan Hospital, Yangsan, Korea.
  • 4Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea. yaong97@paran.com
  • 5Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.

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.

Keyword

Myelodysplastic syndromes; Acute lymphoblastic leukemia; Cytogenetic aberrations; Microarray analysis
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