Figure 1.
(A) List of patients showing gender, age, final diagnosis, SM test results, and tryptase genotyping. An asterisk next to a patient number indicates where a discordant result affected the diagnosis. A dash (−) indicates a negative result. A plus (+) refers to a positive result. A (D) indicates a discordant result. Specifically, a discordant KIT p.D816V result occurred when 2 different tests had different results (see Figure 1B). A discordant BST result occurred when at least one timepoint showed a BST ≥20 ng/mL and other timepoints showed BST <20 ng/mL (see Figure 2A). A discordant CD25 result occurred when FC showed CD25 positive MCs but IHC did not; or when IHC initially did not show CD25 expression in 1 clinical lab but did on reanalysis by hematopathologists I.M. and E.P. (see Figure 2B). A discordant result for spindling and aggregates occurred when these criteria were documented in a pathology report as not being met by 1 clinical lab and then as met on reanalysis by authors I.M. and E.P. All 14 patients diagnosed with SM had a normal tryptase genotype. (B) Comparison of 4 PCR-based and 2 sequencing-based clinical methods to detect KIT p.D816V in blood and marrow aspirate. Sanger sequencing and NGS are sequence-based methods. PCR-based assays include asoPCR, qPCR1, qPCR2, and qPCR3. qPCR1-3 correspond to 3 different clinical labs for qPCR. For asoPCR, a “Pos” indicates a positive result in which the mutation was detected. For all methods, a “Neg” indicates a negative result in which the mutation was not detected. The variant allele frequencys are shown for qPCR1-3 methods. Patient 13 had no mutational testing performed and patient 14 had only 1 method performed. BST ranges are shown in ng/mL. Greyed-out cells indicate testing was not performed.

(A) List of patients showing gender, age, final diagnosis, SM test results, and tryptase genotyping. An asterisk next to a patient number indicates where a discordant result affected the diagnosis. A dash (−) indicates a negative result. A plus (+) refers to a positive result. A (D) indicates a discordant result. Specifically, a discordant KIT p.D816V result occurred when 2 different tests had different results (see Figure 1B). A discordant BST result occurred when at least one timepoint showed a BST ≥20 ng/mL and other timepoints showed BST <20 ng/mL (see Figure 2A). A discordant CD25 result occurred when FC showed CD25 positive MCs but IHC did not; or when IHC initially did not show CD25 expression in 1 clinical lab but did on reanalysis by hematopathologists I.M. and E.P. (see Figure 2B). A discordant result for spindling and aggregates occurred when these criteria were documented in a pathology report as not being met by 1 clinical lab and then as met on reanalysis by authors I.M. and E.P. All 14 patients diagnosed with SM had a normal tryptase genotype. (B) Comparison of 4 PCR-based and 2 sequencing-based clinical methods to detect KIT p.D816V in blood and marrow aspirate. Sanger sequencing and NGS are sequence-based methods. PCR-based assays include asoPCR, qPCR1, qPCR2, and qPCR3. qPCR1-3 correspond to 3 different clinical labs for qPCR. For asoPCR, a “Pos” indicates a positive result in which the mutation was detected. For all methods, a “Neg” indicates a negative result in which the mutation was not detected. The variant allele frequencys are shown for qPCR1-3 methods. Patient 13 had no mutational testing performed and patient 14 had only 1 method performed. BST ranges are shown in ng/mL. Greyed-out cells indicate testing was not performed.

Close Modal
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal