• А. М. Попов
  • О. М. Плеханова
  • А.М. Кустанович
  • О. В. Алейникова
  • Т. Л. Гиндина
  • А. С. Демина
  • А. Е. Друй
  • К. Л. Кондратчик
  • А. В. Мисюрин
  • Н. В. Мякова
  • Т. О. Ригер
  • Л. И. Савельев
  • О. И. Сокова
  • О. В. Стренева
  • М. В. Сучкова
  • Ю. П. Финашутина
  • Е.В. Флейшман
  • Е. В. Шориков
  • Р. И. Юцкевич
  • C. Meyer
  • R. Marschalek
  • Л. Г. Фечина
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 real-time 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.
Translated title of the contributionTranslocation 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
Original languageRussian
Pages (from-to)17-32
JournalОнкогематология
Volume8
Issue number1
Publication statusPublished - 2013

    GRNTI

  • 76.00.00 MEDICINE AND HEALTH CARE

    Level of Research Output

  • VAK List

ID: 8214644