prikaz prve stranice dokumenta Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients
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Scientific paper - Original scientific paper
Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients
International Journal of Molecular Sciences, 21 (2020), 8; 3025. https://doi.org/10.3390/ijms21083025
Geissler, Klaus; Jäger, Eva; Barna, Agnes; Gurbisz, Michael; Graf, Temeida; Graf, Elmir; Nösslinger, Thomas; Pfeilstöcker, Michael; Tüchler, Heinz; Sliwa, Thamer; Keil, Felix; Geissler, Christoph; Heibl, Sonja; Thaler, Josef; Machherndl-Spandl, Sigrid; Zach, Otto; Weltermann, Ansgar; Bettelheim, Peter; Stauder, Reinhard; Zebisch, Armin; Sill, Heinz; Schwarzinger, Ilse; Schneeweiss, Bruno; Öhler, Leopold; Ulsperger, Ernst; Kušec, Rajko; Germing, Ulrich; Sperr, Wolfgang R.; Knöbl, Paul; Jäger, Ulrich; Hörmann, Gregor; Valent, Peter More authors...

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Geissler, K., Jäger, E., Barna, A., Gurbisz, M., Graf, T., Graf, E. ... Valent, P. (2020). Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients. International Journal of Molecular Sciences, 21. (8). doi: 10.3390/ijms21083025

Geissler, Klaus, et al. "Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients." International Journal of Molecular Sciences, vol. 21, no. 8, 2020. https://doi.org/10.3390/ijms21083025

Geissler, Klaus, Eva Jäger, Agnes Barna, Michael Gurbisz, Temeida Graf, Elmir Graf, Thomas Nösslinger, et al. "Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients." International Journal of Molecular Sciences 21, no. 8 (2020). https://doi.org/10.3390/ijms21083025

Geissler, K., et al. (2020) 'Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients', International Journal of Molecular Sciences, 21(8). doi: 10.3390/ijms21083025

Geissler K, Jäger E, Barna A, Gurbisz M, Graf T, Graf E, and sur.. Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients. International Journal of Molecular Sciences [Internet]. 2020 April 24 [cited 2024 November 22];21(8). doi: 10.3390/ijms21083025

K. Geissler, et al., "Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients", International Journal of Molecular Sciences, vol. 21, no. 8, April 2020. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:294681. [Accessed: 22 November 2024]

Metadata
Title (english)Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia - A Retrospective Analysis in 337 Patients
AuthorKlaus Geissler
AuthorEva Jäger
AuthorAgnes Barna
AuthorMichael Gurbisz
AuthorTemeida Graf
AuthorElmir Graf
AuthorThomas Nösslinger
AuthorMichael Pfeilstöcker
AuthorHeinz Tüchler
AuthorThamer Sliwa
AuthorFelix Keil
AuthorChristoph Geissler
AuthorSonja Heibl
AuthorJosef Thaler
AuthorSigrid Machherndl-Spandl
AuthorOtto Zach
AuthorAnsgar Weltermann
AuthorPeter Bettelheim
AuthorReinhard Stauder
AuthorArmin Zebisch
AuthorHeinz Sill
AuthorIlse Schwarzinger
AuthorBruno Schneeweiss
AuthorLeopold Öhler
AuthorErnst Ulsperger
AuthorRajko Kušec
AuthorUlrich Germing
AuthorWolfgang R. Sperr
AuthorPaul Knöbl
AuthorUlrich Jäger
AuthorGregor Hörmann
AuthorPeter Valent
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Internal Medicine)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Abstract (english)
Although the RAS-pathway has been implicated as an important driver in the pathogenesis of chronic myelomonocytic leukemia (CMML) a comprehensive study including molecular and functional analyses in patients with progression and transformation has not been performed. A close correlation between RASopathy gene mutations and spontaneous in vitro myeloid colony (CFU-GM) growth in CMML has been described. Molecular and/or functional analyses were performed in three cohorts of 337 CMML patients: in patients without (A, n = 236) and with (B, n = 61) progression/transformation during follow-up, and in patients already transformed at the time of sampling (C, n = 40 + 26 who were before in B). The frequencies of RAS-pathway mutations (variant allele frequency ≥ 20%) in cohorts A, B, and C were 30%, 47%, and 71% (p < 0.0001), and of high colony growth (≥20/105 peripheral blood mononuclear cells) 31%, 44%, and 80% (p < 0.0001), respectively. Increases in allele burden of RAS-pathway mutations and in numbers of spontaneously formed CFU-GM before and after transformation could be shown in individual patients. Finally, the presence of mutations in RASopathy genes as well as the presence of high colony growth prior to transformation was significantly associated with an increased risk of acute myeloid leukemia (AML) development. Together, RAS-pathway mutations in CMML correlate with an augmented autonomous expansion of neoplastic precursor cells and indicate an increased risk of AML development which may be relevant for targeted treatment strategies.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleInternational Journal of Molecular Sciences
Numberingvol. 21, no. 8, 3025
e-ISSN1422-0067
DOIhttps://doi.org/10.3390/ijms21083025
URN:NBNurn:nbn:hr:105:294681
Publication2020-04-24
Document URLhttps://www.mdpi.com/1422-0067/21/8/3025
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2021-04-13 07:56:52