Treatment refractory mast cell leukemia with dominant gastrointestinal manifestation and concomitant skin symptoms: A case report

Table 1 Laboratory test results of the described patient

Parameter, unit	Result	Normal range
WBC (×109/L)	6.99	4.30–9.64
RBC (×1012/L)	2.71	3.81–5.13
HGB (g/dL)	8.5	12.0–15.1
Htc (%)	27	35-46
MCV (fl)	103	80-99
MCH (pg)	31.4	27.0–33.5
MCHC (g/dL)	31.3	31.5–36.0
RDW (CV%)	20.1	11.2–13.7
PLT (× 109/L)	112 L	163-347
Neutrophil (× 109/L)	4.0	1.93– 5.87
Lymphocyte (× 109/L)	1.59	1.23–3.42
Monocyte (× 109/L)	1.14 H	0.26–0.78
Eosinophil (× 109/L)	0.03	0.03–0.37
Basophil (× 109/L)	0.02	0.02–0.08
APTT (s)	28.3	23-35
PT (s)	16.8
INR	1.48
Albumin (g/dL)	3.5	3.9–4.9
Total protein (g/dL)	5.2	6.4–8.3
Calcium (mg/dL)	8.9	8.6-10.2
Sodium (mmol/L)	138	136-145
Potassium (mmol/L)	4.6	3.5–5.1
Parathyroid hormone (pg/mL)	9.2	15-65
Iron (μg/dL)	67	60-180
Vit B12 (pg/mL)	200	191-663
Folic acid (ng/mL)	5.2	4.5–37.3
C-reactive Protein (mg/dL)	0.3	0-0.8
Alanine aminotransferase (U/L)	10	0-33
Aspartate aminotransferase (U/L)	10	0-31
Bilirubin (mg/dL)	0.3	0-1.2
Alkaline phosphatase (U/L)	69	35-104
Lipase (U/L)	31	0-67
Amylase (U/L)	6	0-100
Creatinine (mg/dL)	0.5	0.5-0.9
Thyroid-stimulating hormone (μIU/Ml)	0.352	0.27-4.2
Lactate Dehydrogenase (U/L)	126	135-223

WBC: White blood cells; RBC: Red blood cells; HGB: Hemoglobin; Htc: Hematocrit; MCV: Mean corpuscle volume; MCH: Mean corpuscular hemoglobin; MCHC: Mean corpuscular hemoglobin concentration; RDW: Red cell distribution width; PLT: Platelet count; APTT: Activated partial thromboplastin time; PT: Prothrombin time; INR: International normalized ratio.

Table 2 Systemic mastocytosis diagnostic criteria

Criteria	Description
Major criterion	Multifocal dense infiltrates of mast cells MCs (≥ 15 MCs in aggregates) in bone marrow trephine biopsies and/or in sections of other extracutaneous organ(s)
Minor criteria	(1) Presence of atypical mast cells in bone marrow smears or spindle-shaped mast cells in biopsies of internal organs (except skin) constituting > 25% of all types of mast cells
	(2) Presence of KIT gene mutation in the bone marrow or another extracutaneous organ(s)
	(3) MCs in bone marrow, blood, or other extracutaneous organs expressing CD25 and/or CD2 and/or CD30
	(4) Serum tryptase concentration > 20 ng/ml (does not apply to patients with other malignancies of the hematopoietic system accompanying mastocytosis)
According to WHO 2022, a major and one minor OR at least three minor SM criteria must be fulfilled to establish a diagnosis
According to ICC 2022, a major criterion or at least 3 minor SM criteria must be fulfilled to establish a diagnosis

MCs: Mast cells; SM: Systemic mastocytosis; ICC: International consensus classification; OR: Odds ratio; WHO: World Health Organization.