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KMID : 1100720130330020130
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Annals of Laboratory Medicine
2013 Volume.33 No. 2 p.130 ~ p.135
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A Rare Case of Transformation of Childhood Myelodysplastic Syndrome to Acute Lymphoblastic Leukemia
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Koh Young-Rae
Kim In-Suk
Lee Eun-Yup
Cho Eun-Hae
Park Seong-Shik
Park Mi-Young
Lee Sun-Min
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Abstract
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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.
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KEYWORD
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Myelodysplastic syndromes, Acute lymphoblastic leukemia, Cytogenetic aberrations, Microarray analysis
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