Address of Corresponding Author

Acta Haematol 2005;114:41-51 (DOI: 10.1159/000085561)

  Key Words

• Systemic mastocytosis
• Histopathology
• Classification
• Therapies

  Abstract

Mast cell disease (MCD) is characterized by the abnormal growth and accumulation of neoplastic mast cells (MC) in one or more organs. The diagnosis of systemic MCD is most commonly established by a thorough histological and immunohistochemical examination of a bone marrow (BM) trephine specimen. In cases with pathognomonic perivascular and -trabecular aggregates of morphologically atypical MC and significant BM involvement, the diagnosis may be relatively straightforward. In contrast, when a sparse, loose pattern of MC infiltration predominates, or when MCs are obscured by an associated non-MC hematological neoplasm, a high index of suspicion and use of adjunctive tests, including special stains, such as tryptase and CD25, may be necessary to reach a diagnosis. The updated classification for MCD clarifies the clinical and pathological criteria for categorizing patients into relatively discrete subgroups. Some cases, however, such those with Fip1-like-1-platelet-derived growth factor receptor (FIP1L1-PDGFRA)⁺ clonal eosinophilia associated with elevated serum tryptase levels, with features that overlap MCD and chronic eosinophilic leukemia, may not be easy to categorize on the basis of this classification. There is no standard therapy for MCD and treatment has to be tailored to the needs of the individual patient. MC-cytoreductive therapies, such as interferon- and chemotherapy, are generally reserved for patients with progressive disease and organopathy. A subset of MCD patients with associated eosinophilia who carry the FIP1L1-PDGFRA oncogene will achieve complete clinical, histological, and molecular remissions with imatinib mesylate therapy, in contrast to those with c-kit D816V mutations. The BM pathology, consensus classification, and current therapies for MCD are further discussed in this article.

Copyright © 2005 S. Karger AG, Basel

  Author Contacts

A. Pardanani, MD
Divisions of Hematology and Internal Medicine, Mayo Clinic
200 First Street SW
Rochester, MN 55905 (USA)
Tel. +1 507 284 3417, Fax +1 507 266 4972, E-Mail Pardanani.animesh@mayo.edu

  Article Information

Number of Print Pages : 11
Number of Figures : 0, Number of Tables : 4, Number of References : 120