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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| Language: | Russian |
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ABV-press
2014-07-01
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| Series: | Онкогематология |
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| Online Access: | https://oncohematology.abvpress.ru/ongm/article/view/40 |
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| author | 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 |
| author_facet | 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 |
| author_sort | G. A. Tsaur |
| collection | DOAJ |
| description | 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. |
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| spelling | doaj.art-edf5b300c2f44700bb7ab8e29b2429b12025-03-02T13:07:08ZrusABV-pressОнкогематология1818-83462413-40232014-07-0181173210.17650/1818-8346-2013-8-1-17-3255Translocation 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 monitoringG. A. Tsaur0A. M. Popov1O. M. Plekhanova2A. M. Kustanovich3O. V. Aleynikova4T. L. Gindina5A. S. Demina6A. Ye. Druy7S. Yu. Kovalev8K. L. Kondratchik9A. V. Misyurin10N. V. Myakova11T. O. Riger12L. I. Savelyev13O. I. Sokova14O. V. Streneva15M. V. Suchkova16Yu. P. Finashutina17Ye. V. Fleyshman18Ye. V. Shorikov19R. I. Yutskevich20C. Meyer21R. Marschalek22L. G. Fechina23Regional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell TechnologiesRegional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell TechnologiesRegional Childrenʼs Clinical Hospital №1Belarusian Research Center for Pediatric Hematology, Oncology and ImmunologyBelarusian Research Center for Pediatric Hematology, Oncology and ImmunologyRaisa Gorbacheva Memorial Institute of Children Hematology and Transplantation, St.-Petersburg I.P. Pavlov State Medical University, Ministry of Health of RussiaRegional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell TechnologiesRegional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell Technologies Ural State Medical AcademyThe first President of Russia Boris Yeltsin Ural Federal UniversityMorozov Children Municipal Clinical HospitalDmitriy Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaDmitriy Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRegional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell TechnologiesRegional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell Technologies Ural State Medical AcademyN.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical SciencesRegional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell TechnologiesHematology Research Center, Ministry of Health of RussiaDmitriy Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaN.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical SciencesRegional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell TechnologiesBelarusian Research Center for Pediatric Hematology, Oncology and ImmunologyDiagnostic Center of Acute Leukemia, Institute of Pharmaceutical Biology / ZAFES, Goethe-University of FrankfurtDiagnostic Center of Acute Leukemia, Institute of Pharmaceutical Biology / ZAFES, Goethe-University of FrankfurtRegional Childrenʼs Clinical Hospital №1 Research Institute of Medical Cell TechnologiesWe 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.https://oncohematology.abvpress.ru/ongm/article/view/40acute leukemiainfantsmll rearrangementstranslocation t(111)(p32q23)mll-eps15 fusion geneminimal residual disease |
| spellingShingle | 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 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 Онкогематология acute leukemia infants mll rearrangements translocation t(1 11)(p32 q23) mll-eps15 fusion gene minimal residual disease |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | acute leukemia infants mll rearrangements translocation t(1 11)(p32 q23) mll-eps15 fusion gene minimal residual disease |
| url | https://oncohematology.abvpress.ru/ongm/article/view/40 |
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