Ann Lab Med.  2014 Nov;34(6):475-477. 10.3343/alm.2014.34.6.475.

A Cryptic ETV6/ABL1 Rearrangement Represents a Unique Fluorescence In Situ Hybridization Signal Pattern in a Patient with B Acute Lymphoblastic Leukemia

• Song JS
• Shin SY
• Lee ST
• Kim HJ
• Kim SH

• KMID: 2129576
• DOI: http://doi.org/10.3343/alm.2014.34.6.475

Abstract

No abstract available.

MeSH Terms

Adult
Base Sequence
Bone Marrow/pathology
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 9
Female
Humans
In Situ Hybridization, Fluorescence
Molecular Sequence Data
Oncogene Proteins, Fusion/*genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/genetics/pathology
Pregnancy
Protein-Tyrosine Kinases/*genetics
Sequence Analysis, DNA
Translocation, Genetic
Oncogene Proteins, Fusion
Protein-Tyrosine Kinases

Figure

• 

  Fig. 1 FISH analysis using locus-specific identifiers for interphase and metaphase cells of bone marrow aspirate. (A) LSI ETV6/RUNX1 (ES) probe on interphase cells, (B) LSI ETV6/RUNX1 (ES) probe on metaphase cells, (C) LSI BCR/ABL1 (DF) probe on interphase cells, (D) LSI BCR/ABL1 (DF) probe on metaphase cells, (E) LSI ETV6 (BA) probe on interphase cells, (F) LSI ETV6 (BA) probe on metaphase cells, and (G) Sequence of fusion transcript products spanning the fusion site, revealing fusion of ETV6 exon 5 to ABL1 exon 2.Abbreviations: LSI, locus-specific identifier; DF, dual fusion; ES, extra signal; BA, break-apart.

• 

  Fig. 2 Schematic representation of the suspected chromosomal mechanism leading to ETV6/ABL1 rearrangement in this case.

Reference

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2. De Braekeleer E, Douet-Guilbert N, Rowe D, Bown N, Morel F, Berthou C, et al. ABL1 fusion genes in hematological malignancies: a review. Eur J Haematol. 2011; 86:361–371. PMID: 21435002.

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