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

作者：Koh Young Rae; Cho Eun Hae; Park Seong Shik; Park Mi Young; Lee Sun Min^*; Kim In Suk; Lee Eun Yup

来源：Annals of Laboratory Medicine, 2013, 33(2): 130-135.

DOI：10.3343/alm.2013.33.2.130

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

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.

• 出版日期2013-3