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Sökning: onr:"swepub:oai:DiVA.org:umu-211913" > Duplex sequencing u...

Duplex sequencing uncovers recurrent low-frequency cancer-associated mutations in infant and childhood KMT2A-rearranged acute leukemia

Pilheden, Mattias (författare)
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
Ahlgren, Louise (författare)
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
Hyrenius-Wittsten, Axel (författare)
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 (författare)
Division of Pediatric Hematology/Oncology, Stanford University, School of Medicine, CA, Stanford, United States
Sturesson, Helena (författare)
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
Hansen Marquart, Hanne Vibeke (författare)
Department of Clinical Immunology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
Lausen, Birgitte (författare)
Department of Paediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Denmark
Castor, Anders (författare)
Childhood Cancer Center, Skane University Hospital, Lund, Sweden
Pronk, Cornelis Jan (författare)
Childhood Cancer Center, Skane University Hospital, Lund, Sweden
Barbany, Gisela (författare)
Karolinska Institute,Karolinska Institutet
Pokrovskaja Tamm, Katja (författare)
Karolinska Institute,Karolinska Institutet
Fogelstrand, Linda (författare)
Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Sweden
Lohi, Olli (författare)
Tampere Center for Child, Adolescent and Maternal Health Research, Tays Cancer Center, Tampere University, Tampere University Hospital, Tampere, Finland
Norén-Nyström, Ulrika (författare)
Umeå University,Umeå universitet,Pediatrik
Asklin, Johanna (författare)
SAGA Diagnostics, Lund, Sweden,SAGA Diagnostics AB
Chen, Yilun (författare)
SAGA Diagnostics, Lund, Sweden,SAGA Diagnostics AB
Song, Guangchun (författare)
Department of Pathology, St. Jude Children's Research Hospital, TN, Memphis, United States
Walsh, Michael (författare)
Department of Pathology, St. Jude Children's Research Hospital, TN, Memphis, United States
Ma, Jing (författare)
Department of Pathology, St. Jude Children's Research Hospital, TN, Memphis, United States
Zhang, Jinghui (författare)
Department of Computational Biology, St. Jude Children's Research Hospital, TN, Memphis, United States
Saal, Lao H (författare)
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
Gawad, Charles (författare)
Division of Pediatric Hematology/Oncology, Stanford University, School of Medicine, CA, Stanford, United States
Hagström-Andersson, Anna K (författare)
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
Engelska.
Ingår i: HemaSphere. - : Wolters Kluwer. - 2572-9241. ; 6:10
Relaterad länk:
https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
http://dx.doi.org/10... (free)
https://urn.kb.se/re...
https://doi.org/10.1...
http://kipublication...
https://lup.lub.lu.s...
http://kipublication...
http://kipublication...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

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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