The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)
Open accessAbstract
We analyzed the mutational hotspot region of SRSF2 (Pro95) in 275 cases with chronic myelomonocytic leukemia (CMML). In addition, ASXL1, CBL, EZH2, JAK2V617F, KRAS, NRAS, RUNX1, and TET2 mutations were investigated in subcohorts. Mutations in SRSF2 (SRSF2mut) were detected in 47% (129 of 275) of all cases. In detail, 120 cases had a missense mutation at Pro95, leading to a change to Pro95His, Pro95Leu, Pro95Arg, Pro95Ala, or Pro95Thr. In 9 cases, 3 new in/del mutations were observed: 7 cases with a 24-bp deletion, 1 case with a 3-bp duplication, and 1 case with a 24-bp duplication. In silico analyses predicted a damaging character for the protein structure of SRSF2 for all mutations. SRSF2mut was correlated with higher age, less pronounced anemia, and normal karyotype. SRSF2mut and EZH2mut were mutually exclusive, but SRSF2mut was associated with TET2mut. In the total cohort, no effect of SRSF2mut on survival was observed. However, in the RUNX1mut subcohort, SRSF2 Pro95His had a favorable effect on overall survival. This comprehensive mutation analysis found that 93% of all patients with CMML carried at least 1 somatic mutation in 9 recurrently mutated genes. In conclusion, these data show the importance of SRSF2mut as new diagnostic marker in CMML.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
Swerdlow, S. H. (2017) · Medical Entomology and Zoology · Cited by 12,933
Protein Structure Comparison by Alignment of Distance Matrices
Holm, L., & Sander, C. (1993) · Journal of Molecular Biology · doi:10.1006/jmbi.1993.1489 · Cited by 3,984
WHO classification of haematolymphoid tumours
Gaillard, F., Weerakkody, Y., & Sharma, R. (2010) · Radiopaedia.org · doi:10.53347/rid-9250 · Cited by 3,776
A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
Kralovics, R., Passamonti, F., Buser, A. S., Teo, S.-S., Tiedt, R., Passweg, J. R., Tichelli, A., Cazzola, M., & Skoda, R. C. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa051113 · Cited by 3,470
Levine, R. L., Wadleigh, M., Cools, J., Ebert, B. L., Wernig, G., Huntly, B. J. P., Boggon, T. J., Wlodarska, I., Clark, J. J., Moore, S., et al. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.03.023 · Cited by 2,993
Protein structure prediction and analysis using the Robetta server
Kim, D. E., Chivian, D., & Baker, D. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh468 · Cited by 2,111
EUKARYOTIC CYTOSINE METHYLTRANSFERASES
Goll, M. G., & Bestor, T. H. (2005) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.74.010904.153721 · Cited by 2,063
Frequent pathway mutations of splicing machinery in myelodysplasia
Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., et al. (2011) · Nature · doi:10.1038/nature10496 · Cited by 2,029
Self-citationWard, P. S., Patel, J., Wise, D. R., Abdel-Wahab, O., Bennett, B. D., Coller, H. A., Cross, J. R., Fantin, V. R., Hedvat, C. V., Perl, A. E., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.01.020 · Cited by 2,020
Cited by
Arber, D. A., Orazi, A., Hasserjian, R. P., Borowitz, M. J., Calvo, K. R., Kvasnicka, H.-M., Wang, S. A., Bagg, A., Barbui, T., Branford, S., et al. (2022) · Blood · doi:10.1182/blood.2022015850 · Cited by 2,945
Self-citationUrbanski, L. M., Leclair, N., & Anczuków, O. (2018) · WIREs RNA · doi:10.1002/wrna.1476 · Cited by 389
Ogawa, S. (2019) · Blood · doi:10.1182/blood-2018-10-844621 · Cited by 367
Self-citationElena, C., Gallì, A., Such, E., Meggendorfer, M., Germing, U., Rizzo, E., Cervera, J., Molteni, E., Fasan, A., Schuler, E., et al. (2016) · Blood · doi:10.1182/blood-2016-05-714030 · Cited by 361
Self-citationKwok, B., Hall, J. M., Witte, J. S., Xu, Y., Reddy, P., Lin, K., Flamholz, R., Dabbas, B., Yung, A., Al-Hafidh, J., et al. (2015) · Blood · doi:10.1182/blood-2015-08-667063 · Cited by 317
Metadata
- Authors
- Meggendorfer, M., Roller, A., Haferlach, T., Eder, C., Dicker, F., Grossmann, V., Kohlmann, A., Alpermann, T., Yoshida, K., Ogawa, S., Koeffler, H. P., Kern, W., Haferlach, C., & Schnittger, S.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2012-10-11
- Volume
- 120
- Issue
- 15
- Pages
- 3080-3088
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2052505035
- Cited by
- 311
- References
- 47
- FWCI
- 16.71
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). https://app.cochat.ai/papers/10.1182/blood-2012-01-404863
- The paper
- Meggendorfer, M., Roller, A., Haferlach, T., Eder, C., Dicker, F., Grossmann, V., Kohlmann, A., Alpermann, T., Yoshida, K., Ogawa, S., Koeffler, H. P., Kern, W., Haferlach, C., & Schnittger, S. (2012). SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood. https://doi.org/10.1182/blood-2012-01-404863
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
