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    Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia

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    Author
    Koka, R.
    Bade, N.A.
    Sausville, E.A.
    Date
    2017
    Journal
    Molecular Cytogenetics
    Publisher
    BioMed Central Ltd.
    Type
    Article
    
    Metadata
    Show full item record
    See at
    https://doi.org/10.1186/s13039-017-0340-6
    Abstract
    Background: ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted among the NUP214-ABL fusion genes, there have been few such reports among cases with BCR-ABL fusion genes. Case presentation: Here we report a unique case of a 44-year old patient with T-ALL in which the blasts demonstrated a derivative chromosome 9 involving a 9;22 translocation and a dicentric Philadelphia chromosome 22 with a homogeneously staining region at the interface of the 9;22 translocation, leading to BCR-ABL1 gene amplification. Fluorescence in-situ hybridization (FISH) showed abnormal BCR/ABL1 fusions with the BCR-ABL1 gene amplification in 48% of the interphase cells analyzed. The translocation was confirmed by SNP array. Conclusions: We present a novel derivative chromosome 9 that shows BCR-ABL gene fusion along with a dicentric Philadelphia chromosome 22 with BCR-ABL1 gene amplification. This is a unique pattern of BCR-ABL fusion which has never been described in T-ALL. It is significant that the patient responded to standard treatment with the CALGB 10403 protocol and supplementation with a tyrosine kinase inhibitor. Identification of additional patients with this pattern of BCR-ABL fusion will allow for enhanced risk assessment and prognostication. Copyright 2017 The Author(s).
    Keyword
    BCR/ABL
    Derivative chromosome 9
    Gene amplification
    Isodicentric chromosome 22
    T-lymphoblastic leukemia
    Identifier to cite or link to this item
    https://www.scopus.com/inward/record.uri?eid=2-s2.0-85032331838&doi=10.1186%2fs13039-017-0340-6&partnerID=40&md5=01b181e2e331aa3fcb73583498adb918; http://hdl.handle.net/10713/11296
    ae974a485f413a2113503eed53cd6c53
    10.1186/s13039-017-0340-6
    Scopus Count
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    UMB Open Access Articles 2017

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