A rare case of transformation of childhood myelodysplastic syndrome to acute lymphoblastic leukemia.

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.

journal_name

Ann Lab Med

authors

Koh YR,Cho EH,Park SS,Park MY,Lee SM,Kim IS,Lee EY

doi

10.3343/alm.2013.33.2.130

keywords:

["Acute lymphoblastic leukemia","Cytogenetic aberrations","Microarray analysis","Myelodysplastic syndromes"]

subject

Has Abstract

pub_date

2013-03-01 00:00:00

pages

130-5

issue

2

eissn

2234-3806

issn

2234-3814

journal_volume

33

pub_type

杂志文章

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