Korean J Lab Med.  2006 Aug;26(4):249-254. 10.3343/kjlm.2006.26.4.249.

Biphenotypic Acute Leukemia with BCR-ABL mRNA Transcript b3a2 Type: A Case Report with Review of the Literature

• Choi HW
• Shin MG
• Kim HJ
• Lee IK
• Yun JH
• Kim HR
• Kim YK
• Yun HK
• Cho D
• Kee SJ
• Shin JH
• Suh SP
• Ryang DW

• KMID: 2238831
• DOI: http://doi.org/10.3343/kjlm.2006.26.4.249

Abstract

Biphenotypic acute leukemia (BAL) is a subtype of leukemia of ambiguous lineage in the World Health Organization classification system. About one third of the cases have the Philadelphia chromosome, and some cases are associated with other structural abnormalities involving 11q23. BAL is known to have a poor prognosis in both children and adults. According to the previously reported BAL cases with positive BCR-ABL fusion gene, most of the BCR-ABL mRNA transcript type was e1a2. So, we describe here a 30-year-old adult BAL case with the karyotype 46,XY,t(9;22)(q34;q11.2) resulting in a very rare b3a2 type of BCR-ABL mRNA transcript.

Keyword

Biphenotypic acute leukemia (BAL); Ph chromosome; BCR-ABL mRNA transcript

MeSH Terms

Adult
Child
Classification
Humans
Karyotype
Leukemia
Leukemia, Biphenotypic, Acute*
Philadelphia Chromosome
Prognosis
RNA, Messenger*
World Health Organization
RNA, Messenger

Figure

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  Fig. 1. Leukemic cell morphology and special stain. (A) Leukemic blasts were variable in size and morphology with small lymphoid like blasts and larger blasts having irregular nuclei, prominent nucleoli and abundant cytoplasm from bone marrow aspirate smear (Wright stain, × 1,000). (B) Positive reaction for myeloperoxidase stain (×1,000) and (C) sudan black B stain (×1,000). (D) Fine granular and diffuse positive reaction for periodic acid Schiff stain (×1,000).

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  Fig. 2. All 20 analyzed metaphases using G-banding method had t(9;22)(q34;q11).

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  Fig. 3. Nested RT-PCR analysis for BCR/ABL chimeric mRNA disclosed b3a2 type (b, 305 bp), internal control of ABL gene (c, 105 bp) and marker (a, 100 bp ladder).

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  Fig. 4. High resolution melter analysis for BCR-ABL fusion gene exon 5 (A), exon 7 (B), exon 8 (C), exon 9 (D), exon 10 (E) and exon 11 (F). The black curves are wild-type samples. The colored curves are patient's bone marrow samples, which showed no variations and identical melting curve pattern seen in wild type samples.

Reference

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