Clonal hematopoiesis detection by simultaneous assessment of peripheral blood mononuclear cells, blood plasma, and saliva
Caitlin M. Stewart, Sonya Parpart-Li, James R. White, Mitesh Patel, Oliver Artz, Michael B. Foote, Erika Gedvilaite, Michelle F. Lamendola-Essel, Drew Gerber, Rohini Bhattacharya, Justin M. Haseltine, Kety Huberman, Kelly L. Bolton, Ross L. Levine, Luis A. Diaz Jr.
Caitlin M. Stewart, Sonya Parpart-Li, James R. White, Mitesh Patel, Oliver Artz, Michael B. Foote, Erika Gedvilaite, Michelle F. Lamendola-Essel, Drew Gerber, Rohini Bhattacharya, Justin M. Haseltine, Kety Huberman, Kelly L. Bolton, Ross L. Levine, Luis A. Diaz Jr.
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Research Letter Genetics Hematology Oncology

Clonal hematopoiesis detection by simultaneous assessment of peripheral blood mononuclear cells, blood plasma, and saliva

Abstract

Authors

Caitlin M. Stewart, Sonya Parpart-Li, James R. White, Mitesh Patel, Oliver Artz, Michael B. Foote, Erika Gedvilaite, Michelle F. Lamendola-Essel, Drew Gerber, Rohini Bhattacharya, Justin M. Haseltine, Kety Huberman, Kelly L. Bolton, Ross L. Levine, Luis A. Diaz Jr.

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Figure 1

Concordance of mutations in CH, MDS, and AML between biofluids and sensitivity/specificity of multiple biofluid calls.

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Concordance of mutations in CH, MDS, and AML between biofluids and sensi...
(A) Scatter plot and box plot of VAFs in buffy coat versus saliva for CH, showing that saliva has lower VAFs than buffy coat (P = 4.9 × 10–5, 95% CI [–4.21, 1.90]). (B) Scatter plot and box plot of VAFs in buffy coat versus cfDNA in CH, showing nonsignificant differences in buffy coat and cfDNA VAFs (P = 0.11, 95% CI [–2.99, 3.13]). (C) Scatter plots of each AML and MDS sample, comparing the buffy coat and cfDNA VAFs. (D) Dot plots of the VAFs in buffy coat versus cfDNA in AML, CH, and MDS. (E) Observed sensitivity when incorporating 1 (single; yellow), 2 (duo; green), or 3 (trio; blue) biospecimens to establish a mutation call. (A–C) The gray line represents x = y. Comparisons were done using paired 2-tailed t tests. Boxes indicate interquartile range, middle bars denote the median, whiskers represent minimum and maximum values, and dots indicate outliers.