Genomic characterization of HIV-associated plasmablastic lymphoma identifies pervasive mutations in the JAK-STAT pathway.


Journal

Blood cancer discovery
ISSN: 2643-3249
Titre abrégé: Blood Cancer Discov
Pays: United States
ID NLM: 101764786

Informations de publication

Date de publication:
07 2020
Historique:
entrez: 23 11 2020
pubmed: 24 11 2020
medline: 24 11 2020
Statut: ppublish

Résumé

Plasmablastic lymphoma (PBL) is an aggressive B-cell non-Hodgkin lymphoma associated with immunodeficiency in the context of Human Immunodeficiency Virus (HIV) infection or iatrogenic immunosuppression. While a rare disease in general, the incidence is dramatically increased in regions of the world with high HIV prevalence. The molecular pathogenesis of this disease is poorly characterized. Here, we defined the genomic features of PBL in a cohort of 110 patients from South Africa (15 by whole exome sequencing and 95 by deep targeted sequencing). We identified recurrent mutations in genes of the JAK-STAT signaling pathway, including

Identifiants

pubmed: 33225311
doi: 10.1158/2643-3230.BCD-20-0051
pii: 2643-3230.BCD-20-0051
pmc: PMC7679070
mid: NIHMS1627159
doi:

Substances chimiques

STAT Transcription Factors 0
Janus Kinases EC 2.7.10.2

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Pagination

112-125

Subventions

Organisme : NCI NIH HHS
ID : D43 CA153715
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM117591
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA192854
Pays : United States
Organisme : NCI NIH HHS
ID : U54 CA193313
Pays : United States

Commentaires et corrections

Type : CommentIn

Déclaration de conflit d'intérêts

A conflict of interest disclosure statement: R.R. is a consultant for AimedBio in a project unrelated to the current manuscript.

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Auteurs

Zhaoqi Liu (Z)

Program for Mathematical Genomics, Columbia University, New York, New York.
Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, New York.

Ioan Filip (I)

Program for Mathematical Genomics, Columbia University, New York, New York.
Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, New York.

Karen Gomez (K)

Program for Mathematical Genomics, Columbia University, New York, New York.
Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, New York.

Dewaldt Engelbrecht (D)

Department of Haematology and Molecular Medicine, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Shabnum Meer (S)

Department of Oral Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Pooja N Lalloo (PN)

Department of Haematology and Molecular Medicine, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Pareen Patel (P)

Department of Haematology and Molecular Medicine, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Yvonne Perner (Y)

Department of Anatomical Pathology, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Junfei Zhao (J)

Program for Mathematical Genomics, Columbia University, New York, New York.
Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, New York.

Jiguang Wang (J)

Division of Life Science, Department of Chemical and Biological Engineering, Center for Systems Biology and Human Health and State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Hong Kong SAR, China.

Laura Pasqualucci (L)

Institute for Cancer Genetics. lp171@cumc.columbia.edu rr2579@cumc.columbia.edu pascale.willem@nhls.ac.za.
Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York.
Department of Pathology and Cell Biology, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York.

Raul Rabadan (R)

Program for Mathematical Genomics, Columbia University, New York, New York. lp171@cumc.columbia.edu rr2579@cumc.columbia.edu pascale.willem@nhls.ac.za.
Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, New York.

Pascale Willem (P)

Department of Haematology and Molecular Medicine, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. lp171@cumc.columbia.edu rr2579@cumc.columbia.edu pascale.willem@nhls.ac.za.

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Classifications MeSH