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. 2025 Jun 19;135(16):e191256.
doi: 10.1172/JCI191256. Online ahead of print.

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

Caitlin M Stewart  1 , Sonya Parpart-Li  2 , James R White  3 , Mitesh Patel  4 , Oliver Artz  5 , Michael B Foote  6 , Erika Gedvilaite  5 , Michelle F Lamendola-Essel  7 , Drew Gerber  8 , Rohini Bhattacharya  9 , Justin M Haseltine  5 , Kety Huberman  10 , Kelly L Bolton  11 , Ross L Levine  12 , Luis A Diaz Jr  6
Affiliations

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

Caitlin M Stewart et al. J Clin Invest. .
No abstract available

Keywords: Bioinformatics; Genetics; Hematology; Molecular diagnosis; Molecular genetics; Oncology.

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Conflict of interest statement

Conflict of interest: JRW is the owner of Resphera Biosciences. RLL is on the board of Qiagen and Ajax Therapeutics. He is or has recently been a scientific advisor to Imago, Mission Bio, Syndax, Zentalis, Ajax, Bakx, Auron, Prelude, C4 Therapeutics, and Isoplexis. He has research support from Ajax and AbbVie, consulted for Janssen, and received honoraria from AstraZeneca and Kura for invited lectures. MBF has acted as a paid consultant for Abbott, Genzyme, and Bristol Meyers Squibb. LAD is a member of the board of directors of Quest Diagnostics and Epitope. He is a compensated consultant to Absci, GSK, Innovatus CP, Se’er, Delfi, Blackstone, and Neophore.

Figures

Figure 1
Figure 1. Concordance of mutations in CH, MDS, and AML between biofluids and sensitivity/specificity of multiple biofluid calls.
(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.
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