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Serum Tryptase Levels in Patients with Mastocytosis: Correlation with Mast Cell Burden and Implication for Defining the Category of DiseaseSperr W.R.a · Jordan J.-H.a · Fiegl M.c · Escribano L.e · Bellas C.f · Dirnhofer S.d · Semper H.a · Simonitsch-Klupp I.b · Horny H.-P.g · Valent P.a
aDepartment of Internal Medicine I, Division of Hematology and Hemostaseology, bDepartment of Clinical Pathology, University of Vienna, cDepartment of Internal Medicine, Division of Hematology, dInstitute of Pathology, University of Innsbruck, Austria; eServicio de Hematologia, Unidad de Mastocitosis, fServicio de Anatomia Patológica, Hospital Ramón y Cajal, Madrid, España; gInstitute of Pathology, Medical University of Lübeck, Germany
Background: The serum tryptase level is used as a diagnostic marker in mastocytosis and is considered to reflect the burden of (neoplastic) mast cells (MC). Methods: In the present study, serum tryptase levels were measured in patients with mastocytosis by fluoroenzyme immunoassay and compared with the extent of infiltration of the bone marrow (BM) by neoplastic MC, determined by tryptase immunohistochemistry. Sixteen patients with cutaneous mastocytosis (CM) and 43 patients with systemic mastocytosis (SM) were examined. Results: In most patients with CM (defined by the absence of dense compact MC infiltrates in tryptase-stained BM sections), normal or near-normal serum tryptase levels (median 10 ng/ml, range 2–23 ng/ml) were measured. By contrast, in the vast majority of patients with SM, elevated serum tryptase levels (median 67 ng/ml) were found. In addition, there was a significant correlation between the grade of infiltration of the BM by neoplastic MC and tryptase levels in patients with SM (r = 0.8). Moreover, enzyme levels differed significantly among the groups of patients with different types of SM. The highest levels (>900 ng/ml) were detected in the patient with MC leukemia, 2 patients with slowly progressing SM and high MC burden (smoldering SM) and 1 patient with indolent SM. In contrast, in all 3 patients with isolated BM mastocytosis (no skin lesions and no signs of multiorgan involvement), serum tryptase levels were <20 ng/ml. Conclusions: In summary, our data suggest that the measurement of serum tryptase is a reliable noninvasive diagnostic approach to estimate the burden of MC in patients with mastocytosis and to distinguish between categories of disease.
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