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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 ; Tesi, Bianca ; Cammenga, Jörg LU ; Stray-Pedersen, Asbjørg ; Jahnukainen, Kirsi ; Andersen, Mette Klarskov ; Ågerstam, Helena LU ; Creignou, Maria ; Dybedal, Ingunn and Raaschou-Jensen, Klas , et al. (2024) In HemaSphere 8(8).
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
HemaSphere
volume
8
issue
8
article number
e145
publisher
Wolters Kluwer
external identifiers
  • pmid:39139355
  • scopus:85201123864
ISSN
2572-9241
DOI
10.1002/hem3.145
language
English
LU publication?
yes
id
2f8ca76d-5b4e-4c2a-beac-75948d1340c1
date added to LUP
2024-09-10 14:28:14
date last changed
2025-07-03 08:11:10
@article{2f8ca76d-5b4e-4c2a-beac-75948d1340c1,
  abstract     = {{<p>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.</p>}},
  author       = {{Baliakas, Panagiotis and Tesi, Bianca and Cammenga, Jörg and Stray-Pedersen, Asbjørg and Jahnukainen, Kirsi and Andersen, Mette Klarskov and Ågerstam, Helena and Creignou, Maria and Dybedal, Ingunn and Raaschou-Jensen, Klas and Grønbæk, Kirsten and Kilpivaara, Outi and Lindberg, Eva Hellström and Wartiovaara-Kautto, Ulla}},
  issn         = {{2572-9241}},
  language     = {{eng}},
  number       = {{8}},
  publisher    = {{Wolters Kluwer}},
  series       = {{HemaSphere}},
  title        = {{How to manage patients with germline DDX41 variants : Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms}},
  url          = {{http://dx.doi.org/10.1002/hem3.145}},
  doi          = {{10.1002/hem3.145}},
  volume       = {{8}},
  year         = {{2024}},
}