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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
- Authors: Tsaur G.A.1, Popov A.M.1, Plekhanova O.M.2, Kustanovich A.M.3, Aleynikova O.V.3, Gindina T.L.4, Demina A.S.1, Druy A.Y.5, Kovalev S.Y.6, Kondratchik K.L.7, Misyurin A.V.8, Myakova N.V.8, Riger T.O.1, Savelyev L.I.5, Sokova O.I.9, Streneva O.V.1, Suchkova M.V.10, Finashutina Y.P.8, Fleyshman Y.V.9, Shorikov Y.V.1, Yutskevich R.I.3, Meyer C.11, Marschalek R.11, Fechina L.G.1
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Affiliations:
- Regional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell Technologies
- Regional Childrenʼs Clinical Hospital №1
- Belarusian Research Center for Pediatric Hematology, Oncology and Immunology
- Raisa Gorbacheva Memorial Institute of Children Hematology and Transplantation, St.-Petersburg I.P. Pavlov State Medical University, Ministry of Health of Russia
- Regional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell Technologies Ural State Medical Academy
- The first President of Russia Boris Yeltsin Ural Federal University
- Morozov Children Municipal Clinical Hospital
- Dmitriy Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
- N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
- Hematology Research Center, Ministry of Health of Russia
- Diagnostic Center of Acute Leukemia, Institute of Pharmaceutical Biology / ZAFES, Goethe-University of Frankfurt
- Issue: Vol 8, No 1 (2013)
- Pages: 17-32
- Section: HEMATOLOGIC MALIGNANCIES: DIAGNOSIS, TREATMENT, SUPPORTIVE CARE
- Published: 22.02.2013
- URL: https://oncohematology.abvpress.ru/ongm/article/view/40
- DOI: https://doi.org/10.17650/1818-8346-2013-8-1-17-32
- ID: 40
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Abstract
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.
About the authors
G. A. Tsaur
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Author for correspondence.
Email: tsaur@mail.ru
Russian Federation
A. M. Popov
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Russian Federation
O. M. Plekhanova
Regional Childrenʼs Clinical Hospital №1Russian Federation
A. M. Kustanovich
Belarusian Research Center for Pediatric Hematology, Oncology and ImmunologyRussian Federation
O. V. Aleynikova
Belarusian Research Center for Pediatric Hematology, Oncology and ImmunologyRussian Federation
T. L. Gindina
Raisa Gorbacheva Memorial Institute of Children Hematology and Transplantation, St.-Petersburg I.P. Pavlov State Medical University,Ministry of Health of Russia
Russian Federation
A. S. Demina
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Russian Federation
A. Ye. Druy
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Ural State Medical Academy
Russian Federation
S. Yu. Kovalev
The first President of Russia Boris Yeltsin Ural Federal UniversityRussian Federation
K. L. Kondratchik
Morozov Children Municipal Clinical HospitalRussian Federation
A. V. Misyurin
Dmitriy Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian Federation
N. V. Myakova
Dmitriy Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian Federation
T. O. Riger
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Russian Federation
L. I. Savelyev
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Ural State Medical Academy
Russian Federation
O. I. Sokova
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical SciencesRussian Federation
O. V. Streneva
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Russian Federation
M. V. Suchkova
Hematology Research Center, Ministry of Health of RussiaRussian Federation
Yu. P. Finashutina
Dmitriy Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian Federation
Ye. V. Fleyshman
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical SciencesRussian Federation
Ye. V. Shorikov
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Russian Federation
R. I. Yutskevich
Belarusian Research Center for Pediatric Hematology, Oncology and ImmunologyRussian Federation
C. Meyer
Diagnostic Center of Acute Leukemia, Institute of Pharmaceutical Biology / ZAFES, Goethe-University of FrankfurtRussian Federation
R. Marschalek
Diagnostic Center of Acute Leukemia, Institute of Pharmaceutical Biology / ZAFES, Goethe-University of FrankfurtRussian Federation
L. G. Fechina
Regional Childrenʼs Clinical Hospital №1Research Institute of Medical Cell Technologies
Russian Federation
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