Patients with mast cell activation symptoms and elevated baseline serum tryptase level have unique bone marrow morphology.
J Allergy Clin Immunol
; 147(4): 1497-1501.e1, 2021 04.
Article
in En
| MEDLINE
| ID: mdl-33248113
ABSTRACT
BACKGROUND:
Patients with mast cell (MC) activation symptoms and elevated baseline serum tryptase level (MCAS-T) may not necessarily have a clonal MC disorder. Many are diagnosed with hereditary α-tryptasemia (HαT), a genetic trait characterized by autosomal dominant inheritance of multiple copies of TPSAB1 encoding α-tryptase and increased risk for severe anaphylaxis.OBJECTIVE:
The aim of our study was to identify and characterize bone marrow MC histopathologic features specific for MCAS-T.METHODS:
A total of 43 patients with MCAS-T underwent evaluation, including bone marrow biopsy, for a MC disorder. The results of the work-up for clonal MC disorders such as systemic mastocytosis and monoclonal MC activation syndrome were negative. Bone marrow MC histopathology was reviewed to identify characteristic features of MCAS-T. A subgroup of patients was available for tryptase genotyping.RESULTS:
Patients with MCAS-T showed unique morphologic and histologic features when compared with controls. MCs were larger (P < .01), hypogranular (P < .01), frequently detected in paratrabecular (P < .05) and perivascular (P < .01) locations, and associated with bone marrow eosinophilia (P < .01). A total of 10 patients who were available for tryptase genotyping were all confirmed to have HαT. This subgroup was representative of the larger MCAS-T cohort.CONCLUSION:
We report unique bone marrow MC phenotypic and histopathologic changes in patients with MCAS-T. These morphologic changes are associated with an elevated tryptase level that has been confirmed to be caused by HαT in all patients available for testing.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Bone Marrow
/
Tryptases
/
Mast Cells
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
J Allergy Clin Immunol
Year:
2021
Document type:
Article