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WFRF:(Raine Amanda)
 

Sökning: WFRF:(Raine Amanda) > Deep targeted seque...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004007naa a22006973a 4500
00119956163
003SE-LIBR
00520161216154257.0
007cr||||||||||||
008161216s2016 sw |||| o |||| ||eng c
0247 a http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1284762 uri
0247 a urn:nbn:se:umu:diva-1284762 urn
0247 a 10.18632/oncotarget.117732 doi
040 a S
0410 a eng
042 9 EPLK
1001 a Lindqvist, C. Marten4 aut
2451 0a Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genesh [Elektronisk resurs]
260 c 2016
500 a Published
5060 a gratis
520 a To characterize the mutational patterns of acute lymphoblastic leukemia (ALL) we performed deep next generation sequencing of 872 cancer genes in 172 diagnostic and 24 relapse samples from 172 pediatric ALL patients. We found an overall greater mutational burden and more driver mutations in T-cell ALL (T-ALL) patients compared to B-cell precursor ALL (BCP-ALL) patients. In addition, the majority of the mutations in T-ALL had occurred in the original leukemic clone, while most of the mutations in BCP-ALL were subclonal. BCP-ALL patients carrying any of the recurrent translocations ETV6-RUNX1, BCR-ABL or TCF3-PBX1 harbored few mutations in driver genes compared to other BCP-ALL patients. Specifically in BCP-ALL, we identified ATRX as a novel putative driver gene and uncovered an association between somatic mutations in the Notch signaling pathway at ALL diagnosis and increased risk of relapse. Furthermore, we identified EP300, ARID1A and SH2B3 as relapse-associated genes. The genes highlighted in our study were frequently involved in epigenetic regulation, associated with germline susceptibility to ALL, and present in minor subclones at diagnosis that became dominant at relapse. We observed a high degree of clonal heterogeneity and evolution between diagnosis and relapse in both BCP-ALL and T-ALL, which could have implications for the treatment efficiency.
650 7a Medical and Health Sciences2 hsv
650 7a Clinical Medicine2 hsv
650 7a Cancer and Oncology2 hsv
650 7a Medicin och hälsovetenskap2 hsv
650 7a Klinisk medicin2 hsv
650 7a Cancer och onkologi2 hsv
653 0a acute lymphoblastic leukemia
653 0a targeted next generation sequencing
653 0a somatic mutation
653 0a relapse
653 0a clonal evolution
7001 a Lundmark, Anders4 aut
7001 a Nordlund, Jessica4 aut
7001 a Freyhult, Eva4 aut
7001 a Ekman, Diana4 aut
7001 a Almlof, Jonas Carlsson4 aut
7001 a Raine, Amanda4 aut
7001 a Overnas, Elin4 aut
7001 a Abrahamsson, Jonas4 aut
7001 a Frost, Britt-Marie4 aut
7001 a Grander, Dan4 aut
7001 a Heyman, Mats4 aut
7001 a Palle, Josefine4 aut
7001 a Forestier, Erik4 aut
7001 a Lonnerholm, Gudmar4 aut
7001 a Berglund, Eva C.4 aut
7001 a Syvanen, Ann-Christine4 aut
7101 2a Umeå universitetb Medicinska fakulteten4 pbl0 268483
7721 8i channel recordw 18813935
7730 8i Värdpublikationt OncoTargetg 7:39, 64071-64088x 1949-2553
8564 0u http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-128476
8564 0u http://dx.doi.org/10.18632/oncotarget.11773
8564 0u http://umu.diva-portal.org/smash/get/diva2:1056619/FULLTEXT01
9102 s6 710a Umeå universitet.b Medicinsk-odontologiska fakultetenu Umeå universitet.b Medicinska fakulteten
9102 s6 710a Medicinska fakulteten vid Umeå universitetu Umeå universitet.b Medicinska fakulteten
841 5 APISa x ab 161216||0000|||||001||||||000000e 1
0247 5 APISa urn:nbn:se:umu:diva-1284762 urn
852 5 APISb APIS
8564 05 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-128476

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