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Clinical significance of somatic mutation in unexplained blood cytopenia

Overview of attention for article published in Blood, April 2017
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)
  • High Attention Score compared to outputs of the same age and source (85th percentile)

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1 news outlet
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28 X users

Citations

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387 Dimensions

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269 Mendeley
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2 CiteULike
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Title
Clinical significance of somatic mutation in unexplained blood cytopenia
Published in
Blood, April 2017
DOI 10.1182/blood-2017-01-763425
Pubmed ID
Authors

Luca Malcovati, Anna Gallì, Erica Travaglino, Ilaria Ambaglio, Ettore Rizzo, Elisabetta Molteni, Chiara Elena, Virginia Valeria Ferretti, Silvia Catricalà, Elisa Bono, Gabriele Todisco, Antonio Bianchessi, Elisa Rumi, Silvia Zibellini, Daniela Pietra, Emanuela Boveri, Clara Camaschella, Daniela Toniolo, Elli Papaemmanuil, Seishi Ogawa, Mario Cazzola

Abstract

Unexplained blood cytopenias, in particular anemia, are often found in older persons. The relationship between these cytopenias and myeloid neoplasms like myelodysplastic syndromes is currently poorly defined. We studied a prospective cohort of patients with unexplained cytopenia with the aim to estimate the predictive value of somatic mutations for identifying subjects with, or at risk of developing a myeloid neoplasm. The study included a learning cohort of 683 consecutive patients investigated for unexplained cytopenia, and a validation cohort of 190 patients referred for suspected myeloid neoplasm. Using granulocyte DNA, we looked for somatic mutations in 40 genes that are recurrently mutated in myeloid malignancies. Overall, 435/683 patients carried a somatic mutation in at least one of these genes. Carrying one somatic mutation with a variant allele frequency equal to or greater than 0.10, or carrying two or more mutations had a positive predictive value for diagnosis of myeloid neoplasm equal to 0.86 and 0.88, respectively. Spliceosome gene mutations and co-mutation patterns involving TET2, DNMT3A, or ASXL1 had positive predictive values for myeloid neoplasm ranging from 0.86 to 1.0. Within subjects with inconclusive diagnostic findings, carrying one or more somatic mutations was associated with a high probability of developing a myeloid neoplasm during follow-up (HR=13.9, P<.001). The predictive values of mutation analysis were confirmed in the independent validation cohort. The findings of this study indicate that mutation analysis on peripheral blood granulocytes may significantly improve the current diagnostic approach to unexplained cytopenia, and more generally the diagnostic accuracy of myeloid neoplasms.

X Demographics

X Demographics

The data shown below were collected from the profiles of 28 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 269 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 269 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 33 12%
Other 31 12%
Student > Ph. D. Student 26 10%
Student > Master 24 9%
Student > Bachelor 17 6%
Other 61 23%
Unknown 77 29%
Readers by discipline Count As %
Medicine and Dentistry 107 40%
Biochemistry, Genetics and Molecular Biology 46 17%
Agricultural and Biological Sciences 6 2%
Immunology and Microbiology 5 2%
Unspecified 5 2%
Other 11 4%
Unknown 89 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 26. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 03 July 2021.
All research outputs
#1,468,332
of 25,382,440 outputs
Outputs from Blood
#1,219
of 33,240 outputs
Outputs of similar age
#28,277
of 324,249 outputs
Outputs of similar age from Blood
#39
of 268 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 33,240 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one has done particularly well, scoring higher than 96% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 324,249 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 91% of its contemporaries.
We're also able to compare this research output to 268 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.