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Genomic characteriz...
Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets
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- Stratmann, Svea, 1989- (author)
- Uppsala universitet,Experimentell och klinisk onkologi,Linda Holmfeldt,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
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- Yones, Sara A. (author)
- Gothenburg University,Göteborgs universitet,Uppsala universitet,Karolinska Institutet,Institutionen för cell- och molekylärbiologi,Science for Life Laboratory, SciLifeLab,Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden
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- Mayrhofer, Markus, 1981- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
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- Norgren, Nina (author)
- Umeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten)
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- Skaftason, A. (author)
- Department of Molecular Medicine and Surgery; Karolinska Institutet, Stockholm, Sweden
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- Sun, Jitong (author)
- Uppsala universitet,Experimentell och klinisk onkologi,Science for Life Laboratory, SciLifeLab,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
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- Smolinska, Karolina (author)
- Uppsala universitet,Beräkningsbiologi och bioinformatik,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden
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- Komorowski, Jan (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Beräkningsbiologi och bioinformatik,Kollegiet för avancerade studier (SCAS),The Institute of Computer Science, Polish Academy of Sciences, Warsaw, Poland; Washington National Primate Research Center, Seattle, WA, USA,Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden; Swedish Collegium for Advanced Study, Uppsala, Sweden; Institute of Computer Science, Polish Academy of Sciences, Warsaw, Poland; Washington National Primate Research Center, WA, Seattle, United States
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- Herlin, M. K. (author)
- Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Pediatrics and Adolescent Medicine, Aarhus University, Aarhus, Denmark
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- Sundström, Christer (author)
- Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
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- Eriksson, Anna, 1977- (author)
- Uppsala universitet,Hematologi,Department of Medical Sciences, Uppsala University, Uppsala, Sweden
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- Höglund, Martin (author)
- Uppsala universitet,Hematologi,Department of Medical Sciences, Uppsala University, Uppsala, Sweden
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- Palle, Josefine, 1964- (author)
- Uppsala universitet,Barnneurologi/Barnonkologi,Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden
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- Abrahamsson, Jonas, 1954 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Jahnukainen, K. (author)
- Children's Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland,Children's Hospital, University of Helsinki, Helsinki, Finland; Helsinki University Central Hospital, Helsinki, Finland
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- Munthe-Kaas, M. C. (author)
- Norwegian Institute of Public Health, Oslo, Norway; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway
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- Zeller, B. (author)
- Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway
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- Tamm, K. P. (author)
- Karolinska Institutet,Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden; Karolinska University Hospital, Stockholm, Sweden
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- Cavelier, Lucia (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
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- Holmfeldt, Linda (author)
- Uppsala universitet,Experimentell och klinisk onkologi,Science for Life Laboratory, SciLifeLab,The Beijer Laboratory, Uppsala, Sweden,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden; Beijer Laboratory, Uppsala, Sweden
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(creator_code:org_t)
- 2021-02-09
- 2021
- English.
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In: Blood Advances. - : American Society of Hematology. - 2473-9529 .- 2473-9537. ; 5:3, s. 900-912
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Abstract
Subject headings
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- Relapse is the leading cause of death of adult and pediatric patients with acute myeloid leukemia (AML). Numerous studies have helped to elucidate the complex mutational landscape at diagnosis of AML, leading to improved risk stratification and new therapeutic options. However, multi-whole-genome studies of adult and pediatric AML at relapse are necessary for further advances. To this end, we performed whole-genome and whole-exome sequencing analyses of longitudinal diagnosis, relapse, and/or primary resistant specimens from 48 adult and 25 pediatric patients with AML. We identified mutations recurrently gained at relapse in ARID1A and CSF1R, both of which represent potentially actionable therapeutic alternatives. Further, we report specific differences in the mutational spectrum between adult vs pediatric relapsed AML, with MGA and H3F3A p.Lys28Met mutations recurrently found at relapse in adults, whereas internal tandem duplications in UBTF were identified solely in children. Finally, our study revealed recurrent mutations in IKZF1, KANSL1, and NIPBL at relapse. All of the mentioned genes have either never been reported at diagnosis in de novo AML or have been reported at low frequency, suggesting important roles for these alterations predominantly in disease progression and/or resistance to therapy. Our findings shed further light on the complexity of relapsed AML and identified previously unappreciated alterations that may lead to improved outcomes through personalized medicine.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- somatic mutations
- clonal evolution
- landscape
- diagnosis
- transplant
- management
- patterns
- complex
- Hematology
- acute myeloid leukemia
- Medical Genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Stratmann, Svea, ...
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Yones, Sara A.
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Mayrhofer, Marku ...
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Norgren, Nina
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Skaftason, A.
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Sun, Jitong
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show more...
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Smolinska, Karol ...
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Komorowski, Jan
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Herlin, M. K.
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Sundström, Chris ...
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Eriksson, Anna, ...
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Höglund, Martin
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Palle, Josefine, ...
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Abrahamsson, Jon ...
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Jahnukainen, K.
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Munthe-Kaas, M. ...
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Zeller, B.
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Tamm, K. P.
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Cavelier, Lucia
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Holmfeldt, Linda
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Blood Advances
- By the university
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University of Gothenburg
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Karolinska Institutet
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Uppsala University
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Umeå University