Translocation t(1;11)(p32;q23) with MLL-EPS15 fusion gene formation in acute leukemias: a review and 6 new case reports. Approaches to minimal residual disease monitoring

Translocation t(1;11)(p32;q23) with MLL-EPS15 fusion gene formation in acute leukemias: a review and 6 new case reports. Approaches to minimal residual disease monitoring

We performed clinical and laboratory characterization of patients with rare translocation t(1;11)(p32;q23) leading to MLL-EPS15 fusion gene formation. Study cohort consisted of 33 primary acute leukemia (AL) cases including 6 newly diagnosed and 27 patients previously described in literature. Among...

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Main Authors: G. A. Tsaur, A. M. Popov, O. M. Plekhanova, A. M. Kustanovich, O. V. Aleynikova, T. L. Gindina, A. S. Demina, A. Ye. Druy, S. Yu. Kovalev, K. L. Kondratchik, A. V. Misyurin, N. V. Myakova, T. O. Riger, L. I. Savelyev, O. I. Sokova, O. V. Streneva, M. V. Suchkova, Yu. P. Finashutina, Ye. V. Fleyshman, Ye. V. Shorikov, R. I. Yutskevich, C. Meyer, R. Marschalek, L. G. Fechina
Format: Article
Language:Russian
Published: ABV-press 2014-07-01
Series:Онкогематология
Subjects:
acute leukemia
infants
mll rearrangements
translocation t(1
11)(p32
q23)
mll-eps15 fusion gene
minimal residual disease
Online Access:https://oncohematology.abvpress.ru/ongm/article/view/40
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Summary:We performed clinical and laboratory characterization of patients with rare translocation t(1;11)(p32;q23) leading to MLL-EPS15 fusion gene formation. Study cohort consisted of 33 primary acute leukemia (AL) cases including 6 newly diagnosed and 27 patients previously described in literature. Among study group patients t(1;11)(p32;q23) was found most frequently in infant AL cases (median age 8 months). In acute lymphoblastic leukemia (ALL) male/female ratio was 1:3, in acute myeloid leukemia (AML) it was 1:1. Additional cytogenetic aberrations in 38 % of patients were revealed. The most frequent breakpoint position in EPS15 gene was intron 1. Four different types of MLLEPS15 fusion gene transcripts were detected. Primers-probe-plasmid combination for MLL-EPS15 fusion gene transcript monitoring by realtime quantitative polymerase chain reaction (RQ-PCR) was developed and successfully applied. In 3 patients RQ-PCR was done on genomic DNA for absolute quantification of MLL-EPS15 fusion gene. High qualitative concordance rate (92 %) was noted between minimal residual disease data obtained in cDNA and genomic DNA for MLL-EPS15 fusion detection.
ISSN:1818-8346
2413-4023

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