Table 1. Clinical, laboratory, and... | American Society of Hematology

Table 1.

Clinical, laboratory, and genetic features of patients with SM (n = 180) grouped according to the presence or absence of CTMCs in their blood

Variable	CTMC^–(<10 CTMCs per mL) (n = 97)				CTMC⁺(≥10 CTMCs per mL) (n = 83)				P
Variable	No./Total	%	Median	Range	No./Total	%	Median	Range	P
Clinical and laboratory features
Age, y			54	19-85			62	26-81	.0001
Male sex	59/97	61			35/83	42			.02
Advanced SM *	1/97	1			24/83	29			<.0001
Anaphylaxis	40/97	41			9/83	11			<.0001
Skin lesions	59/97	61			64/83	77			.04
Organomegalies	3/97	3			38/83	46			<.0001
WBC × 10⁹/L			6.4	3.5-15.5			6.7	1.2-79	.62
Hemoglobin, g/L			144	106-176			133	86-168	<.0001
Platelets × 10⁹/L			223	134-644			196	20-437	.008
Serum baseline tryptase, μg/L			22.6	2.2-485			108	17-1330	<.0001
Serum lactate dehydrogenase, IU/L			170	96-643			152	69-683	.03
Serum alkaline phosphatase, IU/L			66	38-146			99	35-990	<.0001
Serum β₂-microglobulin, μg/mL			2.0	1.2-4.0			2.8	1.6-1.1	<.0001
Plasma histamine, μg/dL			0.06	0.01-2			0.13	0.04-1.1	<.0001
Serum immunoglobulin E, kU/L			25.9	1.9-1379			5.4	1.9-334	<.0001
Loss of bone mass	46/97	47			42/83	51			.8
Bone sclerosis	3/97	3			12/83	15			.007
% BMMCs by flow cytometry			0.09	0.002-0.9			0.4	0.02-37	<.0001
Gene mutational profile
% of patients with KIT^D816V mutation	92/96	96			81/82	99			.24
Multilineal KIT^D816V in BM^†	30/96	31			78/82	95			<.0001
BM KIT VAF			<0.01	<0.01-33.9			15	<0.01-43.3	<.0001
BM KIT^D816V+ cells ≥1%	25/91	28			61/66	92			<.0001
PB KIT VAF			<0.01	<0.01-30.6			6.5	<0.01-46	<.0001
PB KIT^D816V+ cells ≥6%	4/66	6			39/73	53			<.0001
Pathogenic S/A/R/E/D mutations	0/19	0			7/46	15			.1
Disease progression	0/97	0			19/83	23			<.0001
Deaths	0/97	0			5/83^‡	6			.02

Variable	CTMC^–(<10 CTMCs per mL) (n = 97)				CTMC⁺(≥10 CTMCs per mL) (n = 83)				P
Variable	No./Total	%	Median	Range	No./Total	%	Median	Range	P
Clinical and laboratory features
Age, y			54	19-85			62	26-81	.0001
Male sex	59/97	61			35/83	42			.02
Advanced SM *	1/97	1			24/83	29			<.0001
Anaphylaxis	40/97	41			9/83	11			<.0001
Skin lesions	59/97	61			64/83	77			.04
Organomegalies	3/97	3			38/83	46			<.0001
WBC × 10⁹/L			6.4	3.5-15.5			6.7	1.2-79	.62
Hemoglobin, g/L			144	106-176			133	86-168	<.0001
Platelets × 10⁹/L			223	134-644			196	20-437	.008
Serum baseline tryptase, μg/L			22.6	2.2-485			108	17-1330	<.0001
Serum lactate dehydrogenase, IU/L			170	96-643			152	69-683	.03
Serum alkaline phosphatase, IU/L			66	38-146			99	35-990	<.0001
Serum β₂-microglobulin, μg/mL			2.0	1.2-4.0			2.8	1.6-1.1	<.0001
Plasma histamine, μg/dL			0.06	0.01-2			0.13	0.04-1.1	<.0001
Serum immunoglobulin E, kU/L			25.9	1.9-1379			5.4	1.9-334	<.0001
Loss of bone mass	46/97	47			42/83	51			.8
Bone sclerosis	3/97	3			12/83	15			.007
% BMMCs by flow cytometry			0.09	0.002-0.9			0.4	0.02-37	<.0001
Gene mutational profile
% of patients with KIT^D816V mutation	92/96	96			81/82	99			.24
Multilineal KIT^D816V in BM^†	30/96	31			78/82	95			<.0001
BM KIT VAF			<0.01	<0.01-33.9			15	<0.01-43.3	<.0001
BM KIT^D816V+ cells ≥1%	25/91	28			61/66	92			<.0001
PB KIT VAF			<0.01	<0.01-30.6			6.5	<0.01-46	<.0001
PB KIT^D816V+ cells ≥6%	4/66	6			39/73	53			<.0001
Pathogenic S/A/R/E/D mutations	0/19	0			7/46	15			.1
Disease progression	0/97	0			19/83	23			<.0001
Deaths	0/97	0			5/83^‡	6			.02

PB, peripheral blood; S/A/R/E/D, SRSF2, ASXL1, RUNX1, EZH2, and DNMT3A; VAF, variant allele frequency; WBC, white blood cell.

Eleven patients had ASM, 12 had SM-AHN, and 2 had mast cell leukemia.

One patient had the KIT^D816H mutation.

Three patients had ASM-AHN, 1 had ASM, and 1 had MCL.