Navigation überspringen
Universitätsbibliothek Heidelberg

disk Markieren   Persönliche Notiz
Drucker
Andere Formate
Exportieren/Zitieren
Status: Bibliographieeintrag

Verfügbarkeit
Standort: ---
Exemplare: ---
heiBIB
 Online-Ressource
Verfasst von:Makishima, Hideki [VerfasserIn]   i
 Saiki, Ryunosuke [VerfasserIn]   i
 Nannya, Yasuhito [VerfasserIn]   i
 Korotev, Sophia [VerfasserIn]   i
 Gurnari, Carmelo [VerfasserIn]   i
 Takeda, June [VerfasserIn]   i
 Momozawa, Yukihide [VerfasserIn]   i
 Best, Steve [VerfasserIn]   i
 Krishnamurthy, Pramila [VerfasserIn]   i
 Yoshizato, Tetsuichi [VerfasserIn]   i
 Atsuta, Yoshiko [VerfasserIn]   i
 Shiozawa, Yusuke [VerfasserIn]   i
 Iijima-Yamashita, Yuka [VerfasserIn]   i
 Yoshida, Kenichi [VerfasserIn]   i
 Shiraishi, Yuichi [VerfasserIn]   i
 Nagata, Yasunobu [VerfasserIn]   i
 Kakiuchi, Nobuyuki [VerfasserIn]   i
 Onizuka, Makoto [VerfasserIn]   i
 Chiba, Kenichi [VerfasserIn]   i
 Tanaka, Hiroko [VerfasserIn]   i
 Kon, Ayana [VerfasserIn]   i
 Ochi, Yotaro [VerfasserIn]   i
 Nakagawa, Masahiro M. [VerfasserIn]   i
 Okuda, Rurika [VerfasserIn]   i
 Mori, Takuto [VerfasserIn]   i
 Yoda, Akinori [VerfasserIn]   i
 Itonaga, Hidehiro [VerfasserIn]   i
 Miyazaki, Yasushi [VerfasserIn]   i
 Sanada, Masashi [VerfasserIn]   i
 Ishikawa, Takayuki [VerfasserIn]   i
 Chiba, Shigeru [VerfasserIn]   i
 Tsurumi, Hisashi [VerfasserIn]   i
 Kasahara, Senji [VerfasserIn]   i
 Müller-Tidow, Carsten [VerfasserIn]   i
 Takaori-Kondo, Akifumi [VerfasserIn]   i
 Ohyashiki, Kazuma [VerfasserIn]   i
 Kiguchi, Toru [VerfasserIn]   i
 Matsuda, Fumihiko [VerfasserIn]   i
 Jansen, Joop H. [VerfasserIn]   i
 Polprasert, Chantana [VerfasserIn]   i
 Blombery, Piers [VerfasserIn]   i
 Kamatani, Yoichiro [VerfasserIn]   i
 Miyano, Satoru [VerfasserIn]   i
 Malcovati, Luca [VerfasserIn]   i
 Haferlach, Torsten [VerfasserIn]   i
 Kubo, Michiaki [VerfasserIn]   i
 Cazzola, Mario [VerfasserIn]   i
 Kulasekararaj, Austin G. [VerfasserIn]   i
 Godley, Lucy A. [VerfasserIn]   i
 Maciejewski, Jaroslaw P. [VerfasserIn]   i
 Ogawa, Seishi [VerfasserIn]   i
Titel:Germ line DDX41 mutations define a unique subtype of myeloid neoplasms
Verf.angabe:Hideki Makishima, Ryunosuke Saiki, Yasuhito Nannya, Sophia Korotev, Carmelo Gurnari, June Takeda, Yukihide Momozawa, Steve Best, Pramila Krishnamurthy, Tetsuichi Yoshizato, Yoshiko Atsuta, Yusuke Shiozawa, Yuka Iijima-Yamashita, Kenichi Yoshida, Yuichi Shiraishi, Yasunobu Nagata, Nobuyuki Kakiuchi, Makoto Onizuka, Kenichi Chiba, Hiroko Tanaka, Ayana Kon, Yotaro Ochi, Masahiro M. Nakagawa, Rurika Okuda, Takuto Mori, Akinori Yoda, Hidehiro Itonaga, Yasushi Miyazaki, Masashi Sanada, Takayuki Ishikawa, Shigeru Chiba, Hisashi Tsurumi, Senji Kasahara, Carsten Müller-Tidow, Akifumi Takaori-Kondo, Kazuma Ohyashiki, Toru Kiguchi, Fumihiko Matsuda, Joop H. Jansen, Chantana Polprasert, Piers Blombery, Yoichiro Kamatani, Satoru Miyano, Luca Malcovati, Torsten Haferlach, Michiaki Kubo, Mario Cazzola, Austin G. Kulasekararaj, Lucy A. Godley, Jaroslaw P. Maciejewski, Seishi Ogawa
E-Jahr:2023
Jahr:February 2, 2023
Umfang:16 S.
Fussnoten:Gesehen am 16.08.2023
Titel Quelle:Enthalten in: Blood
Ort Quelle:Washington, DC : American Society of Hematology, 1946
Jahr Quelle:2023
Band/Heft Quelle:141(2023), 5, Seite 534-549
ISSN Quelle:1528-0020
Abstract: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 DDX41-mutated MNs, enrolling a total of 346 patients with DDX41 pathogenic/likely-pathogenic (P/LP) germ line variants and/or somatic mutations from 9082 MN patients, together with 525 first-degree relatives of DDX41-mutated and wild-type (WT) patients. P/LP DDX41 germ line variants explained ∼80% of known germ line predisposition to MNs in adults. These risk variants were 10-fold more enriched in Japanese MN cases (n = 4461) compared with the general population of Japan (n = 20 238). This enrichment of DDX41 risk alleles was much more prominent in male than female (20.7 vs 5.0). P/LP DDX41 variants conferred a large risk of developing MNs, which was negligible until 40 years of age but rapidly increased to 49% by 90 years of age. Patients with myelodysplastic syndromes (MDS) along with a DDX41-mutation rapidly progressed to acute myeloid leukemia (AML), which was however, confined to those having truncating variants. Comutation patterns at diagnosis and at progression to AML were substantially different between DDX41-mutated and WT cases, in which none of the comutations affected clinical outcomes. Even TP53 mutations made no exceptions and their dismal effect, including multihit allelic status, on survival was almost completely mitigated by the presence of DDX41 mutations. Finally, outcomes were not affected by the conventional risk stratifications including the revised/molecular International Prognostic Scoring System. Our findings establish that MDS with DDX41-mutation defines a unique subtype of MNs that is distinct from other MNs.
DOI:doi:10.1182/blood.2022018221
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1182/blood.2022018221
 DOI: https://doi.org/10.1182/blood.2022018221
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1856320669
Verknüpfungen:→ Zeitschrift

Permanenter Link auf diesen Titel (bookmarkfähig):  https://katalog.ub.uni-heidelberg.de/titel/69113173   QR-Code
zum Seitenanfang

© Universitätsbibliothek HeidelbergMailImpressum / Datenschutz   Design