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- Title
Aggressive Systemic Mastocytosis: A review.
- Authors
Horny, Hans-Peter; Reiter, Andreas; Sotlar, Karl; Valent, Peter
- Abstract
Aggressive systemic mastocytosis (ASM) is a rare but well-defined subtype of systemic mastocytosis (SM). The diagnosis of ASM is based on distinct morphological findings and the presence of clinical characteristics as consequence of SM-induced organ damage. Clinical findings of organ damage caused by massive mast cell infiltration are termed C-findings and include blood cytopenia, malabsorption with weight loss or signs of liver damage causing portal hypertension and ascites. Clinical features usually include hepatosplenomegaly and lymphadenopathy, the latter often presenting as retroperitoneal lymphadenopathy and thus initially mimicking malignant lymphoma. In most patients with C-findings, a bone marrow trephine biopsy is sufficient for a diagnosis of ASM to be established. Molecular testing in ASM almost always reveals the activating point mutation KITD816V but also a variety of other point mutations, in particular in ASM cases associated with a non-mast cell hematological myeloid neoplasm. This disease combination is termed ASM with an associated hematological non-mast cell neoplasm (AHNMD) which is also the most frequent subtype of ASM, whereas ASM without an AHNMD ("pure" ASM) only accounts for one-third of all ASM cases. The differential diagnoses of ASM and ASM-AHNMD include other subtypes of SM like mast cell leukemia and smoldering SM but also various myeloid neoplasms like myelomastocytic leukemia, chronic myelomonocytic leukemia, chronic eosinophilic leukemia, malignant histiocytosis, hairy cell leukemia, and even non-neoplastic inflammatory fibrotic conditions. Therefore, it is mandatory to apply a panel of mast cell-related antibodies on tissue sections including tryptase and CD117 expressed by mast cells at all stages of differentiation and maturation while aberrant expression of CD25 is exclusively seen in mastocytosis, especially in SM.
- Subjects
MAST cell disease; MALABSORPTION syndromes; WEIGHT loss; LYMPHADENITIS; LYMPHOMA diagnosis; DIFFERENTIAL diagnosis; DIAGNOSIS
- Publication
Journal of OncoPathology, 2014, Vol 2, Issue 3, p63
- ISSN
2052-5931
- Publication type
Article
- DOI
10.13032/tjop.2052-5931.100099