Ann Lab Med.  2015 Nov;35(6):643-646. 10.3343/alm.2015.35.6.643.

Cryptic e1a2 BCR-ABL1 Fusion With Complex Chromosomal Abnormality in de novo Myelodysplastic Syndrome

• Seo BY
• Lee JH
• Kang MG
• Choi SY
• Kim SH
• Shin JH
• Suh SP
• Ryang DW
• Shin MG

• KMID: 2363270
• DOI: http://doi.org/10.3343/alm.2015.35.6.643

Abstract

No abstract available.

MeSH Terms

Aged
Base Sequence
Bone Marrow/metabolism/pathology
Chromosome Aberrations
DNA/chemistry/genetics/metabolism
Fusion Proteins, bcr-abl/*genetics
Humans
Immunophenotyping
In Situ Hybridization, Fluorescence
Male
Myelodysplastic Syndromes/diagnosis/*genetics
Real-Time Polymerase Chain Reaction
Sequence Analysis, DNA
DNA
Fusion Proteins, bcr-abl

Figure

• 

  Fig. 1 Morphological and molecular cytogenetic analyses of bone marrow cells. A bone-marrow aspirate from the patient showed dyserythropoiesis (A), dysmegakaryopoiesis (B), and dysgranulopoiesis (C). Fluorescence in situ hybridization with a BCR-ABL1 dual-color dual-fusion probe demonstrated that most cells showed no genomic rearrangement. However, one interphase cell out of 296 analyzed cells harbored a BCR-ABL1 fusion signal (inner box). The ABL1 gene on chromosome 9 is labeled in red, and the BCR gene on chromosome 22 is labeled in green (D).

• 

  Fig. 2 Detection of p190 BCR-ABL1 fusion transcript by multiplex reverse transcriptase -PCR and direct sequencing. Analysis of RNA samples collected from the patient's bone marrow (A, B). The screening kit produced a single band in the M8 lane (A), and the split-out kit produced a single 320-base-pair band in the 8F lane (B), indicating the minor presence of the BCR-ABL1 fusion transcript (e1a2 type). Direct sequencing for the confirmation of a BCR-ABL1 gene rearrangement showed the fusion between exon 1 of the BCR gene and exon 2 of the ABL1 gene (C).

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