Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways
Myeloid malignancies bearing chromosomal inv(3)/t(3;3) abnormalities are among the most therapy-resistant leukemias. Deregulated expression of EVI1 is the molecular hallmark of this disease; however, the genome-wide spectrum of cooperating mutations in this disease subset has not been systematically...
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2015
|
| In: |
Blood
Year: 2015, Jahrgang: 125, Heft: 1, Pages: 133-139 |
| ISSN: | 1528-0020 |
| DOI: | 10.1182/blood-2014-07-591461 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1182/blood-2014-07-591461
|
| Verfasserangaben: | Stefan Gröschel, Mathijs A. Sanders, Remco Hoogenboezem, Annelieke Zeilemaker, Marije Havermans, Claudia Erpelinck, Eric M. J. Bindels, H. Berna Beverloo, Hartmut Döhner, Bob Löwenberg, Konstanze Döhner, Ruud Delwel, and Peter J. M. Valk |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1549527347 | ||
| 003 | DE-627 | ||
| 005 | 20230428180901.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 161108s2015 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1182/blood-2014-07-591461 |2 doi | |
| 035 | |a (DE-627)1549527347 | ||
| 035 | |a (DE-576)479527342 | ||
| 035 | |a (DE-599)BSZ479527342 | ||
| 035 | |a (OCoLC)1340933428 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Gröschel, Stefan |d 1979- |e VerfasserIn |0 (DE-588)138335664 |0 (DE-627)601621565 |0 (DE-576)307122352 |4 aut | |
| 245 | 1 | 0 | |a Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways |c Stefan Gröschel, Mathijs A. Sanders, Remco Hoogenboezem, Annelieke Zeilemaker, Marije Havermans, Claudia Erpelinck, Eric M. J. Bindels, H. Berna Beverloo, Hartmut Döhner, Bob Löwenberg, Konstanze Döhner, Ruud Delwel, and Peter J. M. Valk |
| 264 | 1 | |c 2015 | |
| 300 | |a 7 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 11.01.2021 | ||
| 520 | |a Myeloid malignancies bearing chromosomal inv(3)/t(3;3) abnormalities are among the most therapy-resistant leukemias. Deregulated expression of EVI1 is the molecular hallmark of this disease; however, the genome-wide spectrum of cooperating mutations in this disease subset has not been systematically elucidated. Here, we show that 98% of inv(3)/t(3;3) myeloid malignancies harbor mutations in genes activating RAS/receptor tyrosine kinase (RTK) signaling pathways. In addition, hemizygous mutations in GATA2, as well as heterozygous alterations in RUNX1, SF3B1, and genes encoding epigenetic modifiers, frequently co-occur with the inv(3)/t(3;3) aberration. Notably, neither mutational patterns nor gene expression profiles differ across inv(3)/t(3;3) acute myeloid leukemia, chronicmyeloid leukemia, and myelodysplastic syndromecases, suggesting recognitionof inv(3)/t(3;3) myeloid malignancies as a single disease entity irrespective of blast count. The high incidence of activating RAS/RTK signaling mutations may provide a target for a rational treatment strategy in this high-risk patient group. | ||
| 773 | 0 | 8 | |i Enthalten in |t Blood |d Washington, DC : American Society of Hematology, 1946 |g 125(2015), 1, Seite 133-139 |h Online-Ressource |w (DE-627)266886647 |w (DE-600)1468538-3 |w (DE-576)075961938 |x 1528-0020 |7 nnas |a Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways |
| 773 | 1 | 8 | |g volume:125 |g year:2015 |g number:1 |g pages:133-139 |g extent:7 |a Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1182/blood-2014-07-591461 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20161108 | ||
| 993 | |a Article | ||
| 994 | |a 2015 | ||
| 998 | |g 138335664 |a Gröschel, Stefan |m 138335664:Gröschel, Stefan |d 910000 |d 910100 |e 910000PG138335664 |e 910100PG138335664 |k 0/910000/ |k 1/910000/910100/ |p 1 |x j | ||
| 999 | |a KXP-PPN1549527347 |e 2944468162 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"language":["eng"],"recId":"1549527347","physDesc":[{"extent":"7 S."}],"person":[{"given":"Stefan","family":"Gröschel","display":"Gröschel, Stefan","role":"aut","roleDisplay":"VerfasserIn"}],"note":["Gesehen am 11.01.2021"],"origin":[{"dateIssuedKey":"2015","dateIssuedDisp":"2015"}],"id":{"eki":["1549527347"],"doi":["10.1182/blood-2014-07-591461"]},"relHost":[{"corporate":[{"display":"American Society of Hematology","roleDisplay":"Herausgebendes Organ","role":"isb"}],"recId":"266886647","language":["eng"],"physDesc":[{"extent":"Online-Ressource"}],"note":["Gesehen am 21.04.2023"],"disp":"Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathwaysBlood","type":{"media":"Online-Ressource","bibl":"periodical"},"origin":[{"dateIssuedDisp":"1946-","dateIssuedKey":"1946","publisher":"American Society of Hematology ; Saunders ; HighWire Press","publisherPlace":"Washington, DC ; Philadelphia, Pa. ; Stanford, Calif."}],"part":{"pages":"133-139","volume":"125","issue":"1","text":"125(2015), 1, Seite 133-139","extent":"7","year":"2015"},"id":{"eki":["266886647"],"issn":["1528-0020"],"zdb":["1468538-3"]},"titleAlt":[{"title":"Blood online"}],"pubHistory":["1.1946 -"],"title":[{"title_sort":"Blood","title":"Blood","subtitle":"journal of the American Society of Hematology"}]}],"title":[{"title_sort":"Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways","title":"Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways"}],"name":{"displayForm":["Stefan Gröschel, Mathijs A. Sanders, Remco Hoogenboezem, Annelieke Zeilemaker, Marije Havermans, Claudia Erpelinck, Eric M. J. Bindels, H. Berna Beverloo, Hartmut Döhner, Bob Löwenberg, Konstanze Döhner, Ruud Delwel, and Peter J. M. Valk"]},"type":{"media":"Online-Ressource","bibl":"article-journal"}} | ||
| SRT | |a GROESCHELSMUTATIONAL2015 | ||