Korean J Hematol.  2009 Dec;44(4):249-254. 10.5045/kjh.2009.44.4.249.

t(9;22) with 5'ABL1 Deletion and t(6;19) in Biphenotypic Acute Leukemia

• Kim JE
• Seo YH
• Park PH
• Kim KH
• Song YH
• Park SH
• Seo EJ
• Ahn JY

• KMID: 2252104
• DOI: http://doi.org/10.5045/kjh.2009.44.4.249

Abstract

Biphenotypic acute leukemia (BAL) is a rare type of leukemia, comprises 4% of all acute leukemias. It is more common in adults and the clinical features, as related to marrow dysfunction, are similar to those found in other patients with acute leukemia. BAL commonly shows a dimorphic blast population with, one resembling lymphoblasts and the other resembling myeloblasts. The majority of BAL patients express B-lymphoid and myeloid markers. BAL can be diagnosed by morphologic studies and by a comprehensive panel of immunological markers, as well as cytogenetic/molecular studies, such as fluorescence in situ hybridization (FISH) and reverse transcriptase-polymerase chain reaction (RT-PCR). In addition, its prognosis is relatively poor. We present here a 27 year-old female patient who showed lymphoblasts and myeloblasts on her marrow studies and these cells were positive for myeloid and B-lymphoid markers on the immunophenotypic studies. Chromosome analysis revealed 46,XX,t(6;19)(p23;p13.1),t(9;22)(q34;q11.2). A major (b3a2) type of BCR-ABL1 mRNA transcript was detected by RT-PCR, and a 5'ABL1 deletion was identified by FISH.

Keyword

Biphenotypic acute leukemia (BAL); t(9;22)(q34;q11.2); BCR-ABL1 mRNA transcript; 5'ABL1 deletion

MeSH Terms

Adult
Bone Marrow
Female
Fluorescence
Granulocyte Precursor Cells
Humans
In Situ Hybridization
Leukemia
Leukemia, Biphenotypic, Acute
Prognosis
RNA, Messenger
RNA, Messenger

Figure

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  Fig. 1. Leukemic cell morphology, Immunohistochemistry and special stain. (A) Leukemic blasts are variable in size and morphology with small lymphoid like blasts and large blasts having irregular nuclei, prominent nucleoli and abundant cytoplasm from bone marrow aspirate smear (H&E stain, ×1,000). (B) Blasts showing positive staining with anti-CD 10 monoclonal antibody (IHC stain, ×1,000). (C) Blasts showing positive staining with anti-CD 79a mon-oclonal antibody (IHC stain, ×1,000).

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  Fig. 2. The representative karyogram reveals 46, XX, t(6;19) (p23;p13.1), t(9;22)(q34;q11.2)[7] (GTL banding, ×1,000).

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  Fig. 3. RT-PCR analysis for BCR-ABL1 chimeric mRNA discloses b3a2 type (B). positive control with b3a2 type fusion transcript (C) and size marker (A).

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  Fig. 4. Interphase fluorescence in situ hybrideization (FISH) results. (A) FISH using LSI BCR-ABL1 ES Dual color Tanslocation Probe, reveals one green (native BCR), one large orange (native ABL1) and one fused orange-green (5'BCR-3'ABL1 fusion on der(22)t(9;22)) signal pattern. No smaller orange signal indicates the deletion of 5'ABL1 region on der(9)t(9;22). (B) FISH with TCF3 BAR probe shows two fusion signals indicating no rearrangements of TCF3 gene. (C) FISH using LSI BCR-ABL1 Dual color Dual Fusion Tanslocation Probe, reveals two green (native BCR and 3'BCR on der(9)t(9;22)), one orange (native ABL1) and one fused orange-green (5'BCR-3'ABL1 fusion on der(22)t(9;22)) signal pattern. No one orange signal indicates the deletion of 5'ABL1 on der(9)t(9;22).

Reference

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