Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 23, Issue 3, Pages -Publisher
MDPI
DOI: 10.3390/ijms23031756
Keywords
acute leukemia; retroelements; mobile elements; tumor-specific insertions
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Retroelements have been proposed to play a role in cancerogenesis and different cancer types are characterized by varying levels of tumor-specific RE insertions. Recent study found that acute lymphoblastic leukemia and childhood acute leukemias have low levels of RE insertional activity, and no new tumor-specific RE insertions were identified in the acute leukemia samples tested. Additionally, increased transcription levels of active L1 copies were found, but this was not sufficient for a significant elevation of L1 retrotranspositional activity in leukemia.
Retroelements (RE) have been proposed as important players in cancerogenesis. Different cancer types are characterized by a different level of tumor-specific RE insertions. In previous studies, small cohorts of hematological malignancies, such as acute myeloid leukemia, multiple myeloma, and chronic lymphocytic leukemia have been characterized by a low level of RE insertional activity. Acute lymphoblastic leukemia (ALL) in adults and childhood acute leukemias have not been studied in this context. We performed a search for new RE insertions (Alu and L1) in 44 childhood ALL, 14 childhood acute myeloid leukemia, and 14 adult ALL samples using a highly sensitive NGS-based approach. First, we evaluated the method sensitivity revealing the 1% detection threshold for the proportion of cells with specific RE insertion. Following this result, we did not identify new tumor-specific RE insertions in the tested cohort of acute leukemia samples at the established level of sensitivity. Additionally, we analyzed the transcription levels of active L1 copies and found them increased. Thus, the increased transcription of active L1 copies is not sufficient for overt elevation of L1 retrotranspositional activity in leukemia.
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