Profiling endogenous, environmental, and infectious disease mutational signatures in blastic plasmacytoid dendritic cell neoplasms.

Autor: Small C; Department of Pathology, University of California, San Francisco, California, USA.; Department of Genetics, Stanford University, Stanford, California, USA., Mukerjee S; Department of Pathology, University of California, San Francisco, California, USA., Jangam D; Department of Pathology, Stanford University, Stanford, California, USA., Gollapudi S; Department of Pathology, University of California, San Francisco, California, USA., Singh K; Department of Pathology, University of California, San Francisco, California, USA., Jaye DL; Department of Pathology and Laboratory Medicine, Emory University, Atlanta, Georgia, USA., Aung PP; Department of Pathology and Dermatopathology, MD Anderson Cancer Center, Houston, Texas, USA., Querfeld C; Department of Pathology, City of Hope and Beckman Research Institute, Duarte, California, USA., Yao K; Department of Pathology, City of Hope and Beckman Research Institute, Duarte, California, USA.; Department of Pathology, Cedar-Sinai, Los Angeles, California, USA., Chisholm KM; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington, USA., Pullarkat S; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA., Wang S; Department of Hematopathology, MD Anderson Cancer Center, Houston, Texas, USA., Gru A; Department of Pathology, University of Virginia, Charlottesville, Virginia, USA., Hussaini M; Department of Pathology, Moffitt Cancer Center, Tampa, Florida, USA., George TI; Department of Pathology, University of Utah, Salt Lake City, Utah, USA., Ohgami RS; Department of Pathology, University of California, San Francisco, California, USA.; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
Jazyk: angličtina
Zdroj: International journal of laboratory hematology [Int J Lab Hematol] 2023 Oct; Vol. 45 (5), pp. 726-734. Date of Electronic Publication: 2023 Jun 06.
DOI: 10.1111/ijlh.14108
Abstrakt: Background: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematopoietic disease derived from plasmacytoid dendritic lineage cells. The disease typically shows skin as well as frequent bone marrow and peripheral blood involvement. However, the pathogenesis of this disease is still not well understood. While somatic point mutations and genetic rearrangements have been described in BPDCN, the types and origins of these mutations and relationships to other cancer types is not well understood.
Materials and Methods: To probe the origins of BPDCN, we analyzed the exome sequence data of 9 tumor-normal pair cases of BPDCN. We utilized SignatureAnalyzer, SigProfiler and a custom microbial analysis pipeline to understand the relevance of endogenous and environmental mutagenic processes.
Results: Our results identified a significant tobacco exposure and aging genetic signature as well as signatures related to nucleotide excision repair deficiency, ultra violet (UV) exposure, and endogenous deamination in BPDCN. We also assessed the samples for microbial infectious disease organisms but did not find a link to a microbial etiology.
Conclusion: The identification of a tobacco exposure and aging genetic signature in patients with BPDCN suggests that environmental and endogenous genetic changes may be central to the oncogenesis of BPDCN.
(© 2023 John Wiley & Sons Ltd.)
Databáze: MEDLINE
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