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Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).
- Systemic mastocytosis with associated hematologic neoplasm
- Prevalence: 1-9 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Adult
- ICD-10: C96.2
- OMIM: -
- UMLS: C1301365
- MeSH: -
- GARD: -
- MedDRA: -
It represents less than 10% of cases of SM, whose prevalence is estimated at between 1/20,000 and 1/40,000, but the exact prevalence is unknown.
In 20-35% of cases mastocytosis (predominantly the indolent type; see this term) is associated with another hematological disease, mostly myeloid, which determines the prognosis. The hematological diseases most commonly encountered are acute myeloblastic leukemia (particularly types 1, 2 and 4), myelodysplastic syndromes, myeloproliferative syndromes, particularly myeloproliferative syndrome with hypereosinophilia associated with the FIP1L1-PDGF-RA mutation, chronic myeloid leukemia, chronic myelomonocytic leukemia, and, more rarely, non-Hodgkin lymphoma (see these terms).
In the vast majority of cases, the D816V activating mutation of KIt can be found in the abnormal mast cells, while the cells involved in the non-mast cell hematological disease express the usual clonal markers (Ph1 for LMC; t(8;21) for LAM2 etc).
Diagnosis is based on histological and cytological analysis of bone marrow, which allows the observation of bone marrow mast cells that are more or less atypical and abnormal expression of CD25, along with the myeloid hematological disease that is usually the reason for the analysis. Additional tests (phenotyping, cytogenetics, molecular biology) may be useful to characterize the cells involved in the leukemic clone. Serum levels of tryptase are always greater than 20ng/mL.
Management and treatment
Management involves treatment of the associated hematological disease as if the SM was absent, and treatment of SM as if there was no hematological disease. In the rare cases reported in the literature treatment with chemotherapy for the hematological malignancy does not preclude the persistence of mastocytosis.
Article for general public
- Emergency guidelines
- Français (2013, pdf)