Broad genomic workup including optical genome mapping uncovers a DDX3X: MLLT10 gene fusion in acute myeloid leukemia
In acute myeloid leukemia (AML), treatment decisions are currently made according to the risk classification of the European LeukemiaNet (ELN), which is based on genetic alterations. Recently, optical genome mapping (OGM) as a novel method proved to yield a genome-wide and detailed cytogenetic chara...
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Published in | Frontiers in oncology Vol. 12; p. 959243 |
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Abstract | In acute myeloid leukemia (AML), treatment decisions are currently made according to the risk classification of the European LeukemiaNet (ELN), which is based on genetic alterations. Recently, optical genome mapping (OGM) as a novel method proved to yield a genome-wide and detailed cytogenetic characterization at the time of diagnosis. A young female patient suffered from a rather unexpected aggressive disease course under FLT3 targeted therapy in combination with induction chemotherapy. By applying a “next-generation diagnostic workup“ strategy with OGM and whole-exome sequencing (WES), a
DDX3X: MLLT10
gene fusion could be detected, otherwise missed by routine diagnostics. Furthermore, several aspects of lineage ambiguity not shown by standard diagnostics were unraveled such as deletions of
SUZ12
and
ARPP21
, as well as T-cell receptor recombination. In summary, the detection of this particular gene fusion
DDX3X: MLLT10
in a female AML patient and the findings of lineage ambiguity are potential explanations for the aggressive course of disease. Our study demonstrates that OGM can yield novel clinically significant results, including additional information helpful in disease monitoring and disease biology. |
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AbstractList | In acute myeloid leukemia (AML), treatment decisions are currently made according to the risk classification of the European LeukemiaNet (ELN), which is based on genetic alterations. Recently, optical genome mapping (OGM) as a novel method proved to yield a genome-wide and detailed cytogenetic characterization at the time of diagnosis. A young female patient suffered from a rather unexpected aggressive disease course under FLT3 targeted therapy in combination with induction chemotherapy. By applying a “next-generation diagnostic workup“ strategy with OGM and whole-exome sequencing (WES), a
DDX3X: MLLT10
gene fusion could be detected, otherwise missed by routine diagnostics. Furthermore, several aspects of lineage ambiguity not shown by standard diagnostics were unraveled such as deletions of
SUZ12
and
ARPP21
, as well as T-cell receptor recombination. In summary, the detection of this particular gene fusion
DDX3X: MLLT10
in a female AML patient and the findings of lineage ambiguity are potential explanations for the aggressive course of disease. Our study demonstrates that OGM can yield novel clinically significant results, including additional information helpful in disease monitoring and disease biology. In acute myeloid leukemia (AML), treatment decisions are currently made according to the risk classification of the European LeukemiaNet (ELN), which is based on genetic alterations. Recently, optical genome mapping (OGM) as a novel method proved to yield a genome-wide and detailed cytogenetic characterization at the time of diagnosis. A young female patient suffered from a rather unexpected aggressive disease course under FLT3 targeted therapy in combination with induction chemotherapy. By applying a “next-generation diagnostic workup“ strategy with OGM and whole-exome sequencing (WES), a DDX3X: MLLT10 gene fusion could be detected, otherwise missed by routine diagnostics. Furthermore, several aspects of lineage ambiguity not shown by standard diagnostics were unraveled such as deletions of SUZ12 and ARPP21, as well as T-cell receptor recombination. In summary, the detection of this particular gene fusion DDX3X: MLLT10 in a female AML patient and the findings of lineage ambiguity are potential explanations for the aggressive course of disease. Our study demonstrates that OGM can yield novel clinically significant results, including additional information helpful in disease monitoring and disease biology. |
Author | Tembrink, Marco Döhner, Konstanze Liehr, Thomas Nilius-Eliliwi, Verena Lubieniecka, Joanna M. Schroers, Roland Lubieniecki, Krzystof P. Dimopoulos, Fotios Vangala, Deepak Ben Mika, Thomas Gerding, Wanda Maria Nguyen, Hoa Huu Phuc Kankel, Stefanie |
AuthorAffiliation | 4 Department of Internal Medicine III, University Hospital Ulm , Ulm , Germany 1 Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum , Bochum , Germany 3 Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics , Jena , Germany 2 Human Genetics, Ruhr-University Bochum , Bochum , Germany |
AuthorAffiliation_xml | – name: 4 Department of Internal Medicine III, University Hospital Ulm , Ulm , Germany – name: 1 Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum , Bochum , Germany – name: 2 Human Genetics, Ruhr-University Bochum , Bochum , Germany – name: 3 Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics , Jena , Germany |
Author_xml | – sequence: 1 givenname: Verena surname: Nilius-Eliliwi fullname: Nilius-Eliliwi, Verena – sequence: 2 givenname: Marco surname: Tembrink fullname: Tembrink, Marco – sequence: 3 givenname: Wanda Maria surname: Gerding fullname: Gerding, Wanda Maria – sequence: 4 givenname: Krzystof P. surname: Lubieniecki fullname: Lubieniecki, Krzystof P. – sequence: 5 givenname: Joanna M. surname: Lubieniecka fullname: Lubieniecka, Joanna M. – sequence: 6 givenname: Stefanie surname: Kankel fullname: Kankel, Stefanie – sequence: 7 givenname: Thomas surname: Liehr fullname: Liehr, Thomas – sequence: 8 givenname: Thomas surname: Mika fullname: Mika, Thomas – sequence: 9 givenname: Fotios surname: Dimopoulos fullname: Dimopoulos, Fotios – sequence: 10 givenname: Konstanze surname: Döhner fullname: Döhner, Konstanze – sequence: 11 givenname: Roland surname: Schroers fullname: Schroers, Roland – sequence: 12 givenname: Hoa Huu Phuc surname: Nguyen fullname: Nguyen, Hoa Huu Phuc – sequence: 13 givenname: Deepak Ben surname: Vangala fullname: Vangala, Deepak Ben |
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CitedBy_id | crossref_primary_10_1038_s41375_022_01763_2 crossref_primary_10_3390_cancers15061684 crossref_primary_10_3390_cancers15123214 crossref_primary_10_3390_cancers15112942 |
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Copyright | Copyright © 2022 Nilius-Eliliwi, Tembrink, Gerding, Lubieniecki, Lubieniecka, Kankel, Liehr, Mika, Dimopoulos, Döhner, Schroers, Nguyen and Vangala 2022 Nilius-Eliliwi, Tembrink, Gerding, Lubieniecki, Lubieniecka, Kankel, Liehr, Mika, Dimopoulos, Döhner, Schroers, Nguyen and Vangala |
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Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors have contributed equally to this work and share first authorship Reviewed by: Ibrahim C. Haznedaroglu, Hacettepe University Hospital, Turkey; Livius Penter, Dana–Farber Cancer Institute, United States Edited by: Garrett Dancik, Eastern Connecticut State University, United States This article was submitted to Hematologic Malignancies, a section of the journal Frontiers in Oncology |
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Snippet | In acute myeloid leukemia (AML), treatment decisions are currently made according to the risk classification of the European LeukemiaNet (ELN), which is based... |
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StartPage | 959243 |
SubjectTerms | acute myeloid leukemia DDX3X FLT3-ITD MLLT10 Oncology optical genome mapping SUZ12 |
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Title | Broad genomic workup including optical genome mapping uncovers a DDX3X: MLLT10 gene fusion in acute myeloid leukemia |
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