A cryptic ETV6/ABL1 rearrangement represents a unique fluorescence in situ hybridization signal pattern in a patient with B acute lymphoblastic leukemia

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...

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Bibliographic Details
Published in:Annals of laboratory medicine 2014, 34(6), , pp.475-477
Main Authors: Song, Ju Sun, Shin, Sang-Yong, Lee, Seung-Tae, Kim, Hee-Jin, Kim, Sun-Hee
Format: Article
Language:English
Subjects:
Adult
Base Sequence
Bone Marrow - pathology
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 9
Female
Humans
In Situ Hybridization, Fluorescence
Letter to the Editor
Molecular Sequence Data
Oncogene Proteins, Fusion - genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma - diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology
Pregnancy
Protein-Tyrosine Kinases - genetics
Sequence Analysis, DNA
Translocation, Genetic
병리학
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Summary: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. KCI Citation Count: 5
ISSN:2234-3806
2234-3814
DOI:10.3343/alm.2014.34.6.475