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Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
Makishima H, Saiki R, Nannya Y, Korotev S, Gurnari C, Takeda J, Momozawa Y, Best S, Krishnamurthy P, Yoshizato T, Atsuta Y, Shiozawa Y, Iijima-Yamashita Y, Yoshida K, Shiraishi Y, Nagata Y, Kakiuchi N, Onizuka M, Chiba K, Tanaka H, Kon A, Ochi Y, Nakagawa MM, Okuda R, Mori T, Yoda A, Itonaga H, Miyazaki Y, Sanada M, Ishikawa T, Chiba S, Tsurumi H, Kasahara S, Müller-Tidow C, Takaori-Kondo A, Ohyashiki K, Kiguchi T, Matsuda F, Jansen JH, Polprasert C, Blombery P, Kamatani Y, Miyano S, Malcovati L, Haferlach T, Kubo M, Cazzola M, Kulasekararaj AG, Godley LA, Maciejewski JP, Ogawa S. Makishima H, et al. Blood. 2023 Feb 2;141(5):534-549. doi: 10.1182/blood.2022018221. Blood. 2023. PMID: 36322930 Free PMC article.
Germ line DDX41 variants have been implicated in late-onset myeloid neoplasms (MNs). Despite an increasing number of publications, many important features of DDX41-mutated MNs remain to be elucidated. Here we performed a comprehensive characterization of D …
Germ line DDX41 variants have been implicated in late-onset myeloid neoplasms (MNs). Despite an increasing number of publicati …
Current Understanding of DDX41 Mutations in Myeloid Neoplasms.
Kim K, Ong F, Sasaki K. Kim K, et al. Cancers (Basel). 2023 Jan 5;15(2):344. doi: 10.3390/cancers15020344. Cancers (Basel). 2023. PMID: 36672294 Free PMC article. Review.
The DEAD-box RNA helicase 41 gene, DDX41, is frequently mutated in hereditary myeloid neoplasms, identified in 2% of entire patients with AML/MDS. ...This article reviews our current understanding of DDX41 mutations in myeloid neoplasms in pathologic a …
The DEAD-box RNA helicase 41 gene, DDX41, is frequently mutated in hereditary myeloid neoplasms, identified in 2% of entire pa …
Prevalence and significance of DDX41 gene variants in the general population.
Cheloor Kovilakam S, Gu M, Dunn WG, Marando L, Barcena C, Nik-Zainal S, Mohorianu I, Kar SP, Fabre MA, Quiros PM, Vassiliou GS. Cheloor Kovilakam S, et al. Blood. 2023 Oct 5;142(14):1185-1192. doi: 10.1182/blood.2023020209. Blood. 2023. PMID: 37506341 Free article.
Using multivariate logistic regression, we found significant associations of DDX41-GPV with MDS, AML, and family history of leukemia but not lymphoma, myeloproliferative neoplasms, or other cancers. ...Collectively, our findings give new insights into the pre …
Using multivariate logistic regression, we found significant associations of DDX41-GPV with MDS, AML, and family history of leukemia …
DDX41 is required for cGAS-STING activation against DNA virus infection.
Singh RS, Vidhyasagar V, Yang S, Arna AB, Yadav M, Aggarwal A, Aguilera AN, Shinriki S, Bhanumathy KK, Pandey K, Xu A, Rapin N, Bosch M, DeCoteau J, Xiang J, Vizeacoumar FJ, Zhou Y, Misra V, Matsui H, Ross SR, Wu Y. Singh RS, et al. Cell Rep. 2022 May 24;39(8):110856. doi: 10.1016/j.celrep.2022.110856. Cell Rep. 2022. PMID: 35613581 Free PMC article.
Here, we show that DDX41-knockout (KO) cells have reduced type I interferon production after DNA virus infection. Unexpectedly, activations of cGAS and STING are affected in DDX41 KO cells, suggesting that DDX41 functions upstream of cGAS. The recombinant …
Here, we show that DDX41-knockout (KO) cells have reduced type I interferon production after DNA virus infection. Unexpectedly, activ …
The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL. Li P, et al. Blood. 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. Blood. 2022. PMID: 35671390 Free PMC article.
This superior OS was determined independent of blast count, abnormal karyotypes, and concurrent variants, including TP53 in patients with AML/MDS, regardless of patient's sex, age, or specific germline CV, suggesting that germline DDX41 variants define a distinct clinical …
This superior OS was determined independent of blast count, abnormal karyotypes, and concurrent variants, including TP53 in patients with AM …
DDX41-related myeloid neoplasia.
Maciejewski JP, Padgett RA, Brown AL, Müller-Tidow C. Maciejewski JP, et al. Semin Hematol. 2017 Apr;54(2):94-97. doi: 10.1053/j.seminhematol.2017.04.007. Epub 2017 Apr 21. Semin Hematol. 2017. PMID: 28637623 Free PMC article. Review.
As with other familial genes, DDX41 mutation carriers can develop neoplasia through acquisition of another somatic mutation, thereby affecting both DDX41 alleles. In other patients, somatic mutations of different driver genes can substitute for acquired missense …
As with other familial genes, DDX41 mutation carriers can develop neoplasia through acquisition of another somatic mutation, thereby …
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
Polprasert C, Schulze I, Sekeres MA, Makishima H, Przychodzen B, Hosono N, Singh J, Padgett RA, Gu X, Phillips JG, Clemente M, Parker Y, Lindner D, Dienes B, Jankowsky E, Saunthararajah Y, Du Y, Oakley K, Nguyen N, Mukherjee S, Pabst C, Godley LA, Churpek JE, Pollyea DA, Krug U, Berdel WE, Klein HU, Dugas M, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Yoshida K, Ogawa S, Müller-Tidow C, Maciejewski JP. Polprasert C, et al. Cancer Cell. 2015 May 11;27(5):658-70. doi: 10.1016/j.ccell.2015.03.017. Epub 2015 Apr 23. Cancer Cell. 2015. PMID: 25920683 Free PMC article.
Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline mutations in the DEAD/H-box helicase gene DDX41. DDX41 was also found to be affected by so …
Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we describe an adult familial acute myeloid leukemi …
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.
Sébert M, Passet M, Raimbault A, Rahmé R, Raffoux E, Sicre de Fontbrune F, Cerrano M, Quentin S, Vasquez N, Da Costa M, Boissel N, Dombret H, Peffault de Latour R, Socié G, Itzykson R, Fenaux P, Soulier J, Adès L, Clappier E. Sébert M, et al. Blood. 2019 Oct 24;134(17):1441-1444. doi: 10.1182/blood.2019000909. Blood. 2019. PMID: 31484648 Free article.
Germline DDX41 mutations are involved in familial myelodysplastic syndromes (MDSs) and acute myeloid leukemias (AMLs). ...Salient features of DDX41-related myeloid malignancies include male preponderance, frequent preexisting cytopenia, additional somatic DDX41 …
Germline DDX41 mutations are involved in familial myelodysplastic syndromes (MDSs) and acute myeloid leukemias (AMLs). ...Salient fea …
The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.
Maierhofer A, Mehta N, Chisholm RA, Hutter S, Baer C, Nadarajah N, Pohlkamp C, Thompson ER, James PA, Kern W, Haferlach C, Meggendorfer M, Haferlach T, Blombery P. Maierhofer A, et al. Blood Adv. 2023 Dec 12;7(23):7346-7357. doi: 10.1182/bloodadvances.2023011389. Blood Adv. 2023. PMID: 37874914 Free PMC article.
Deleterious germ line variants in DDX41 are a common cause of genetic predisposition to hematologic malignancies, particularly myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML). ...The presence of a somatic DDX41 variant was highly associated w …
Deleterious germ line variants in DDX41 are a common cause of genetic predisposition to hematologic malignancies, particularly myelod …
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC, Cheng JX, Haribabu Y, Strauss J, Dominguez S, Koppayi A, Perpich M, Pies M, Moma L, Kim A, Basdag H, Rodgers C, Kosuri S, Saiki R, Makishima H, Tawde S, Galasinski S, Kandikatla P, Subramanian HP, Ren K, Bi H, Mohammadhosseini M, Ogawa S, Ji P, Agarwal A, Das S, Godley LA. Korotev SC, et al. Haematologica. 2025 Feb 13. doi: 10.3324/haematol.2024.286887. Online ahead of print. Haematologica. 2025. PMID: 39945023 Free article.
Germline loss of function (LoF) DDX41 variants predispose to late-onset hematopoietic malignancies (HMs), predominantly of myeloid lineage. Among 43 families with germline DDX41 LoF variants, bone marrow (BM) biopsies in those without (n=8) or with malignancies (n=2 …
Germline loss of function (LoF) DDX41 variants predispose to late-onset hematopoietic malignancies (HMs), predominantly of myeloid li …
205 results