Korean J Lab Med.  2010 Jun;30(3):239-243. 10.3343/kjlm.2010.30.3.239.

A Rare Case of Acute Lymphoblastic Leukemia with t(12;17)(p13;q21)

• Kim JE
• Woo KS
• Kim KE
• Kim SH
• Park JI
• Shaffer LG
• Han JY

• KMID: 1781621
• DOI: http://doi.org/10.3343/kjlm.2010.30.3.239

Abstract

Patients with ALL rarely present with t(12;17)(p13;q21) as the primary clonal abnormality; this abnormality is associated with the expression of myeloid antigens. In this study, we have reported presumably the first case of this chromosomal abnormality in Korea, thereby facilitating the delineation of a distinct subtype of ALL. A 57-yr-old woman was referred to our hospital because of pancytopenia. Peripheral blood examination showed 55% blasts. The bone marrow was markedly hypercellular, and about 82.4% of all nucleated cells were blasts. The results of immunophenotyping and cytochemical staining suggested early precursor B-ALL. Cytogenetic analysis of the bone marrow cells showed a complex karyotype, including a reciprocal translocation between the short arm of chromosome 12 and the long arm of chromosome 17, t(12;17)(p13;q21). Data from array comparative genomic hybridization were almost consistent with the cytogenetic findings.

Keyword

ALL; Balanced translocation; Microarray

MeSH Terms

Bone Marrow/pathology
*Chromosomes, Human, Pair 12
*Chromosomes, Human, Pair 17
Cytogenetic Analysis
Female
Humans
Immunophenotyping
Karyotyping
Middle Aged
Pancytopenia/complications
Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications/*genetics/pathology
*Translocation, Genetic

Figure

• 

  Fig. 1. Peripheral blood smear (A) showing blasts. Bone marrow smear (B) revealed many medium-sized lymphoblasts (about 82.4% of all nucleated cells) with moderate amount of cytoplasm, many vacuoles, and indistinct nucleoli (Wright-Giemsa stain, × 1,000).

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  Fig. 2. Giemsa-banded karyotype showing 46,X,-X,+8,der(12)t(12;17)(p13;q21),t(12;17)(p13;q21) (arrows).

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  Fig. 3. The results of array comparative genomic hybridization were consistent with cytogenetic findings. The pink line represents the patient-to-control fluorescence intensity ratios, whereas the dark blue line represents dye-reversed control-to-patient fluorescence ratios. The microarray analysis revealed that the patient had 5 chromosomal abnormalities. The second abnormality is an approximately 6.6-Mb terminal deletion of the short arm of chromosome 12 at 12p13.33-12p13.31. The fourth abnormality is an approximately 47.4-Mb terminal duplication of the long arm of chromosome 17 at 17q12-17q25.3.

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