A Cryptic ETV6/ABL1 Rearrangement Represents a Unique Fluorescence In Situ Hybridization Signal Pattern in a Patient with B Acute Lymphoblastic Leukemia
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Although rearrangements involving each ETV6 and ABL1 gene are some of the most commonly observed chromosomal translo- cations in hematological malignancies [1, 2], an ETV6/ABL1 re- arrangement is very rare, and only 29 such cases have been re- ported to date [3]. This fusion has been associated with a wide range of hematological malignancies, including 11 cases of atyp- ical chronic myeloid leukemia ( BCR/ABL1 negative), 3 cases of myeloproliferative neoplasm (MPN), 5 cases of acute myeloid leukemia, and 10 cases of ALL. The rarity of this rearrangement is related to the inverse transcriptional orientation of the 2 genes relative to the centromeres, because it would involve at least 2 events to form an in-frame fusion transcript [3]. Here, we report a case of B-ALL with ETV6/ABL1 rearrangement.
Abstract
Although rearrangements involving each ETV6 and ABL1 gene are some of the most commonly observed chromosomal translo- cations in hematological malignancies [1, 2], an ETV6/ABL1 re- arrangement is very rare, and only 29 such cases have been re- ported to date [3]. This fusion has been associated with a wide range of hematological malignancies, including 11 cases of atyp- ical chronic myeloid leukemia ( BCR/ABL1 negative), 3 cases of myeloproliferative neoplasm (MPN), 5 cases of acute myeloid leukemia, and 10 cases of ALL. The rarity of this rearrangement is related to the inverse transcriptional orientation of the 2 genes relative to the centromeres, because it would involve at least 2 events to form an in-frame fusion transcript [3]. Here, we report a case of B-ALL with ETV6/ABL1 rearrangement.
참고문헌 (4)
- De Braekeleer E, "ETV6 fusion genes in hematological malignancies: a review", Leuk Res, 36, pp.945~961 (2012)
- De Braekeleer E, "ABL1 fusion genes in hematological malignancies: a review", Eur J Haematol, 86, pp.361~371 (2011)
- Gancheva K, "Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review", Mol Cytogenet, 6, pp.39~ (2013)
- Park J, "Variant of ETV6", ABL1 gene is associated with leukemia phenotype, 2013, pp.129, 78~82