Eosinophilia in systemic mastocytosis: clinical and molecular correlates and prognostic significance

Alexandra Böhm ¹, Manuela Födinger , Friedrich Wimazal

⁰Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.

The Journal of Allergy and Clinical Immunology +

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April 25, 2007

View abstract on PubMed

Summary

Systemic mastocytosis with eosinophilia (SM-eo) indicates a poorer prognosis. The cause of eosinophilia varies, predicting organ damage, and cardiomyopathy is linked to SM with chronic eosinophilic leukemia (SM-CEL).

Area Of Science

Hematology
Oncology
Genetics

Background

Systemic mastocytosis (SM) can present with marked and sustained eosinophilia (SM-eo).
The molecular underpinnings and clinical impact of eosinophilia in SM are not well understood.

Purpose Of The Study

To investigate the clinical correlates and impact of eosinophilia in a cohort of patients with systemic mastocytosis.
To determine the prognostic significance and associated organ damage in SM with eosinophilia.

Main Methods

A cohort of 63 patients with SM was analyzed, identifying 9 with permanent eosinophilia (>1500/microL).
Patients were classified according to WHO criteria, and genetic analysis (KIT mutations, CHIC2 deletion) was performed.
Clinical data, including organ involvement and survival, were assessed.

Main Results

SM-eo was associated with significantly reduced overall and event-free survival compared to SM without eosinophilia.
In SM with chronic eosinophilic leukemia (SM-CEL), a CHIC2 deletion was detected, and KIT D816V mutations were absent.
Patients with SM-CEL developed cardiomyopathy, while other SM-eo patients experienced organopathy primarily affecting the bone marrow, liver, or skeletal system.

Conclusions

The biochemical basis of eosinophilia in SM is heterogeneous and predicts the type of organopathy.
Eosinophilia in SM has prognostic significance but is not a definitive diagnosis.
Cardiomyopathy in SM-eo may be restricted to cases with an associated primary eosinophilic disorder (SM-CEL).

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