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

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

• KMID: 1781313
• DOI: http://doi.org/10.3343/alm.2013.33.2.130

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

MeSH Terms

Bone Marrow Cells/pathology
*Cell Transformation, Neoplastic/genetics
Child
Chromosome Aberrations
Female
Gene Deletion
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Myelodysplastic Syndromes/*diagnosis/genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/genetics
Retinoblastoma Protein/genetics
Retinoblastoma Protein

Figure

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  Fig. 1 Refractory cytopenia of childhood at first admission. (A) Bone marrow (BM) aspiration smear revealing dysplastic erythroid hyperplasia (arrows) (Wright-Giemsa stain, ×1,000). (B) BM biopsy section revealing hypercellularity with erythroid hyperplasia (H&E stain, ×400).

• 

  Fig. 2 ALL at second admission. (A) Bone marrow (BM) aspiration smear exhibiting a markedly increased number of lymphoblasts (Wright-Giemsa stain, ×1,000). (B) BM biopsy section exhibiting marked hypercellularity with lymphoblasts (H&E, ×400).

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  Fig. 3 Chromosome views of the second (ALL-diagnosed) bone marrow sample using cytogenetic microarray analysis. (A) Deletions on chromosome 5q (5q-). (B) Deletions on chromosome 12q (12q-). (C) Deletions on chromosome 13q (13q-) and homozygous loss of the RB1 gene at 13q14. (D) Deletions on chromosome 22q (22q-).

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  Fig. 4 FISH analyses. (A) Two green signals of the 5p15.2 (D5S23, D5S721) probe and two red signals of the 5q31 (EGR1) probe. (B) Two green signals of the 13q34 probe and only one red signal of the 13q14 (RB1) probe, indicating the loss of 13q14.

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