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Status: Bibliographieeintrag

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Verfasst von:Madan, Vikas [VerfasserIn]   i
 Nowak, Daniel [VerfasserIn]   i
 Hofmann, Wolf-Karsten [VerfasserIn]   i
Titel:Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia
Verf.angabe:V. Madan, P. Shyamsunder, L. Han, A. Mayakonda, Y. Nagata, J. Sundaresan, D. Kanojia, K. Yoshida, S. Ganesan, N. Hattori, N. Fulton, K.-T. Tan, T. Alpermann, M.-C. Kuo, S. Rostami, J. Matthews, M. Sanada, L.-Z. Liu, Y. Shiraishi, S. Miyano, E. Chendamarai, H.-A. Hou, G. Malnassy, T. Ma, M. Garg, L.-W. Ding, Q.-Y. Sun, W. Chien, T. Ikezoe, M. Lill, A. Biondi, R.A. Larson, B.L. Powell, M. Lübbert, W.J. Chng, H.-F. Tien, M. Heuser, A. Ganser, M. Koren-Michowitz, S.M. Kornblau, H.M. Kantarjian, D. Nowak, W.-K. Hofmann, H. Yang, W. Stock, A. Ghavamzadeh, K. Alimoghaddam, T. Haferlach, S. Ogawa, L.-Y. Shih, V. Mathews and H.P. Koeffler
E-Jahr:2016
Jahr:6 May 2016
Umfang:10 S.
Fussnoten:Gesehen am 09.08.2019
Titel Quelle:Enthalten in: Leukemia
Ort Quelle:London : Springer Nature, 1997
Jahr Quelle:2016
Band/Heft Quelle:30(2016), 8, Seite 1672-1681
ISSN Quelle:1476-5551
Abstract:Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by differentiation block at the promyelocyte stage. Besides the presence of chromosomal rearrangement t(15;17), leading to the formation of PML-RARA (promyelocytic leukemia-retinoic acid receptor alpha) fusion, other genetic alterations have also been implicated in APL. Here, we performed comprehensive mutational analysis of primary and relapse APL to identify somatic alterations, which cooperate with PML-RARA in the pathogenesis of APL. We explored the mutational landscape using whole-exome (n=12) and subsequent targeted sequencing of 398 genes in 153 primary and 69 relapse APL. Both primary and relapse APL harbored an average of eight non-silent somatic mutations per exome. We observed recurrent alterations of FLT3, WT1, NRAS and KRAS in the newly diagnosed APL, whereas mutations in other genes commonly mutated in myeloid leukemia were rarely detected. The molecular signature of APL relapse was characterized by emergence of frequent mutations in PML and RARA genes. Our sequencing data also demonstrates incidence of loss-of-function mutations in previously unidentified genes, ARID1B and ARID1A, both of which encode for key components of the SWI/SNF complex. We show that knockdown of ARID1B in APL cell line, NB4, results in large-scale activation of gene expression and reduced in vitro differentiation potential.
DOI:doi:10.1038/leu.2016.69
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/10.1038/leu.2016.69
 Volltext: https://www.nature.com/articles/leu201669
 DOI: https://doi.org/10.1038/leu.2016.69
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1671072707
Verknüpfungen:→ Zeitschrift

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