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How to manage patients with germline DDX41 variants : Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms

Baliakas, Panagiotis, 1977- (author)
Uppsala universitet,Cancerprecisionsmedicin
Tesi, Bianca (author)
Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Inst, Ctr Mol Med, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet & Genom, Stockholm, Sweden.;Karolinska Inst, Ctr Hematol & Regenerat Med, Dept Med Huddinge, Stockholm, Sweden.
Cammenga, Jörg (author)
Skane Univ Hosp, Dept Haematol Oncol & Radiat Phys, Lund, Sweden.;Lund Univ, Mol Med & Gene Therapy, Lund, Sweden.
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Stray-Pedersen, Asbjørg (author)
Innlandet Hosp Trust, Habilitat Unit, Brumunddal, Norway.;Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway.
Jahnukainen, Kirsi (author)
Univ Helsinki, Fac Med, Appl Tumor Genom Res Program, Res Programs Unit, Helsinki, Finland.;Univ Helsinki, Childrens Hosp, Helsinki, Finland.;Helsinki Univ Hosp, Helsinki, Finland.;Univ Helsinki, Fac Med, Dept Med & Clin Genet, Medicum, Helsinki, Finland.
Andersen, Mette Klarskov (author)
Copenhagen Univ Hosp, Dept Clin Genet, Rigshosp, Copenhagen, Denmark.
Ågerstam, Helena (author)
Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden.;Off Med Serv, Dept Clin Genet Pathol & Mol Diagnost, Lund, Sweden.
Creignou, Maria (author)
Karolinska Inst, Ctr Hematol & Regenerat Med, Dept Med Huddinge, Stockholm, Sweden.;Karolinska Univ Hosp, Ctr Clin Canc Studies, Phase Unit 1, Stockholm, Sweden.
Dybedal, Ingunn (author)
Oslo Univ Hosp, Dept Hematol, Rikshosp, Oslo, Norway.
Raaschou-Jensen, Klas (author)
Odense Univ Hosp, Dept Hematol, Odense, Denmark.
Grønbaek, Kirsten (author)
Copenhagen Univ Hosp, Dept Hematol, Rigshosp, Copenhagen, Denmark.;Univ Copenhagen, Biotech Res & Innovat Ctr BR, Copenhagen, Denmark.;Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark.
Kilpivaara, Outi (author)
Univ Helsinki, Fac Med, Appl Tumor Genom Res Program, Res Programs Unit, Helsinki, Finland.;Univ Helsinki, Fac Med, Dept Med & Clin Genet, Medicum, Helsinki, Finland.;Univ Helsinki, Helsinki Univ Hosp, HUS Diagnost Ctr, HUSLAB Lab Genet, Helsinki, Finland.;Fdn Finnish Canc Inst, Helsinki, Finland.
Lindberg, Eva Hellström (author)
Karolinska Inst, Ctr Hematol & Regenerat Med, Dept Med Huddinge, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Med, Div Hematol, Huddinge, Sweden.
Wartiovaara-Kautto, Ulla (author)
Univ Helsinki, Fac Med, Appl Tumor Genom Res Program, Res Programs Unit, Helsinki, Finland.;Univ Helsinki, Helsinki Univ Hosp, Comprehens Canc Ctr, Dept Hematol, Helsinki, Finland.
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 (creator_code:org_t)
John Wiley & Sons, 2024
2024
English.
In: HemaSphere. - : John Wiley & Sons. - 2572-9241. ; 8:8
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Increasing recognition of germline DDX41 variants in patients with hematological malignancies prompted us to provide DDX41-specific recommendations for diagnosis, surveillance, and treatment. Causative germline variants in the DDX41 predispose to the development of myeloid neoplasms (MNs), especially myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Almost 3%-5% of all patients with MDS or AML carry a pathogenic or likely pathogenic germline DDX41 variant, while half of them acquire a somatic second hit in the other allele. DDX41-associated MNs exhibit unique clinical characteristics compared to other hematological malignancies with germline predisposition: MNs occur mostly at advanced age and follow an indolent clinical course. Male carriers are more prone to develop MDS or AML than females. DDX41-associated MN is often hypoplastic, and the malignancy may be preceded by cytopenias.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Hematologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Hematology (hsv//eng)

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