Table 1.

Genotyping of peripheral blood cells identifies clonal hematopoiesis in patients with plasma genotyping positive for JAK2 mutations (top) or TP53 mutations (bottom)

IDAgePlasma NGS result (AF %)PBC testing methodTumor NGS resultPBC testing result (AF %)Mutation source
JAK2 analysis
443358JAK2 V617F (19.5)ddPCRNot detectedDetected (4.66)CH
437963JAK2 V617F (2.5)ddPCRNot availableDetected (0.19)CH
401459JAK2 V617F (0.5)ddPCRNot detectedDetected (0.68)CH
34984JAK2 V617F (0.3)ddPCRNot detectedDetected (0.14)CH
444787JAK2 V617F (0.2)ddPCRNot availableDetected (0.13)CH
TP53 analysis
42664TP53 Y220C (1.9)NGSNot detectedDetected (1.72)CH
418873TP53 M237I (1.2)NGSNot detectedDetected (2.66)CH
355770TP53 H193P (0.7)NGSNot detectedDetected (1.1)CH
371773TP53 V272M (0.5)NGSNot detectedDetected (1.29)CH
42367TP53 R110L (0.3)NGSNot detectedDetected (0.56)CH
42747TP53 G244C (11.2)NGSDetectedNot detectedTumor
42449TP53 V157F (8.5)NGSDetectedNot detectedTumor
385643TP53 R280I (5.9)NGSDetectedNot detectedTumor
418873TP53 Y220C (5.6)NGSDetectedNot detectedTumor
425059TP53 R248Q (5.1)NGSDetectedNot detectedTumor
398347TP53 R175H (4.6)NGSDetectedNot detectedTumor
409659TP53 H179R (4.4)NGSDetectedNot detectedTumor
432150TP53 Y220C (2.5)NGSDetectedNot detectedTumor
425468TP53 E271* (1.7)NGSDetectedNot detectedTumor
355770TP53 F134L (1.2)NGSDetectedNot detectedTumor
42664TP53 S127F (0.9)NGSDetectedNot detectedTumor
384750TP53 V172F (0.8)NGSDetectedNot detectedTumor
371773TP53 E204* (0.3)NGSDetectedNot detectedTumor
370659TP53 R337L (0.2)NGSDetectedNot detectedTumor
401459TP53 H193Y (13.2)NGSNot detectedNot detectedUncertain
125881TP53 Y220C (0.5)NGSNot detectedNot detectedUncertain
448868TP53 R282W (0.3)NGSNot detectedNot detectedUncertain
409668TP53 E258* (0.3)NGSNot detectedNot detectedUncertain
405548TP53 R249S (0.3)NGSNot detectedNot detectedUncertain
418873TP53 C277Y (0.2)NGSNot detectedNot detectedUncertain
385643TP53 R213* (0.2)NGSNot detectedNot detectedUncertain
125881TP53 I162F (0.2)NGSNot detectedNot detectedUncertain
42664TP53 V157L (0.2)NGSNot detectedNot detectedUncertain
42449TP53 E298* (0.2)NGSNot detectedNot detectedUncertain
385643TP53 G199E (0.1)NGSNot detectedNot detectedUncertain
355770TP53 C238Y (0.1)NGSNot detectedNot detectedUncertain
355364TP53 Y236C (0.1)NGSNot detectedNot detectedUncertain
296657TP53 Y220C (0.1)NGSNot detectedNot detectedUncertain