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Duplex sequencing u...
Duplex sequencing uncovers recurrent low-frequency cancer-associated mutations in infant and childhood KMT2A-rearranged acute leukemia
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- Pilheden, Mattias (author)
- Lund University,Lunds universitet,MLL-rearrangerad leukemi hos spädbarn,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Ahlgren, Louise (author)
- Lund University,Lunds universitet,MLL-rearrangerad leukemi hos spädbarn,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Hyrenius-Wittsten, Axel (author)
- Lund University,Lunds universitet,MLL-rearrangerad leukemi hos spädbarn,Forskargrupper vid Lunds universitet,Translationella genomiska och funktionella studier av leukemi,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy,Lund University Research Groups,Translational Genomic and Functional Studies of Leukemia,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Gonzalez-Pena, Veronica (author)
- Division of Pediatric Hematology/Oncology, Stanford University, School of Medicine, CA, Stanford, United States
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- Sturesson, Helena (author)
- Lund University,Lunds universitet,MLL-rearrangerad leukemi hos spädbarn,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Hansen Marquart, Hanne Vibeke (author)
- Department of Clinical Immunology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
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- Lausen, Birgitte (author)
- Department of Paediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Denmark
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- Castor, Anders (author)
- Childhood Cancer Center, Skane University Hospital, Lund, Sweden
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- Pronk, Cornelis Jan (author)
- Childhood Cancer Center, Skane University Hospital, Lund, Sweden
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- Barbany, Gisela (author)
- Karolinska Institute,Karolinska Institutet
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- Pokrovskaja Tamm, Katja (author)
- Karolinska Institute,Karolinska Institutet
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- Fogelstrand, Linda (author)
- Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Sweden
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- Lohi, Olli (author)
- Tampere Center for Child, Adolescent and Maternal Health Research, Tays Cancer Center, Tampere University, Tampere University Hospital, Tampere, Finland
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- Norén-Nyström, Ulrika (author)
- Umeå University,Umeå universitet,Pediatrik
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- Asklin, Johanna (author)
- SAGA Diagnostics, Lund, Sweden,SAGA Diagnostics AB
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- Chen, Yilun (author)
- SAGA Diagnostics, Lund, Sweden,SAGA Diagnostics AB
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- Song, Guangchun (author)
- Department of Pathology, St. Jude Children's Research Hospital, TN, Memphis, United States
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- Walsh, Michael (author)
- Department of Pathology, St. Jude Children's Research Hospital, TN, Memphis, United States
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- Ma, Jing (author)
- Department of Pathology, St. Jude Children's Research Hospital, TN, Memphis, United States
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- Zhang, Jinghui (author)
- Department of Computational Biology, St. Jude Children's Research Hospital, TN, Memphis, United States
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- Saal, Lao H (author)
- Lund University,Lunds universitet,Translational Oncogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,SAGA Diagnostics AB
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- Gawad, Charles (author)
- Division of Pediatric Hematology/Oncology, Stanford University, School of Medicine, CA, Stanford, United States
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- Hagström-Andersson, Anna K (author)
- Lund University,Lunds universitet,MLL-rearrangerad leukemi hos spädbarn,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Centrum för Translationell Genomik (CTG),Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Center for Translational Genomics (CTG),Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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(creator_code:org_t)
- Wolters Kluwer, 2022
- 2022
- English.
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In: HemaSphere. - : Wolters Kluwer. - 2572-9241. ; 6:10
- Related links:
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https://doi.org/10.1...
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http://kipublication...
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Abstract
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- Infant acute lymphoblastic leukemia (ALL) with KMT2A-gene rearrangements (KMT2A-r) have few mutations and a poor prognosis. To uncover mutations that are below the detection of standard next-generation sequencing (NGS), a combination of targeted duplex sequencing and NGS was applied on 20 infants and 7 children with KMT2A-r ALL, 5 longitudinal and 6 paired relapse samples. Of identified nonsynonymous mutations, 87 had been previously implicated in cancer and targeted genes recurrently altered in KMT2A-r leukemia and included mutations in KRAS, NRAS, FLT3, TP53, PIK3CA, PAX5, PIK3R1, and PTPN11, with infants having fewer such mutations. Of identified cancer-associated mutations, 62% were below the resolution of standard NGS. Only 33 of 87 mutations exceeded 2% of cellular prevalence and most-targeted PI3K/RAS genes (31/33) and typically KRAS/NRAS. Five patients only had low-frequency PI3K/RAS mutations without a higher-frequency signaling mutation. Further, drug-resistant clones with FLT3D835H or NRASG13D/G12S mutations that comprised only 0.06% to 0.34% of diagnostic cells, expanded at relapse. Finally, in longitudinal samples, the relapse clone persisted as a minor subclone from diagnosis and through treatment before expanding during the last month of disease. Together, we demonstrate that infant and childhood KMT2A-r ALL harbor low-frequency cancer-associated mutations, implying a vast subclonal genetic landscape.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
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- ref (subject category)
- art (subject category)
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Pilheden, Mattia ...
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Ahlgren, Louise
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Hyrenius-Wittste ...
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Gonzalez-Pena, V ...
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Sturesson, Helen ...
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Hansen Marquart, ...
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Lausen, Birgitte
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Castor, Anders
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Pronk, Cornelis ...
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Barbany, Gisela
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Pokrovskaja Tamm ...
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Fogelstrand, Lin ...
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Lohi, Olli
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Norén-Nyström, U ...
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Asklin, Johanna
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Chen, Yilun
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Song, Guangchun
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Walsh, Michael
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Ma, Jing
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Zhang, Jinghui
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Saal, Lao H
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Gawad, Charles
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Hagström-Anderss ...
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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 Basic Medicine
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and Medical Genetics
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MEDICAL AND HEAL ...
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MEDICAL AND HEAL ...
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and Hematology
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HemaSphere
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Umeå University
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Karolinska Institutet
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Lund University