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Mast cell leukemia
Mast cell leukemia is a malignant form of systemic mastocytosis (SM; see this term) characterized, most of the time, by the presence of circulating mast cells.
ORPHA:98851Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: All ages
- ICD-10: C94.3
- OMIM: -
- UMLS: C0023461
- MeSH: D007946
- GARD: -
- MedDRA: 10056450
It is extremely rare (less than 1% of cases of SM).
Mast cell leukemia is a typical hematological disease characterized by an important infiltration of bone marrow and often of blood by abnormal mast cells. In nearly all patients, cutaneous lesions are absent.
In the few cases that have been studied, activating mutations of KIT (D816V, D816Y, G820V) have been found in malignant mast cells, however, various chromosomal anomalies have also been noted.
Diagnosis is based on the histological and cytological analysis of bone marrow. Cytological analysis reveals a proportion of bone marrow mast cells over 20% and, in most cases of mast cell leukemia, bone marrow mast cells with an atypical appearance, immature with a bi or multi-lobed core or, sometimes, a blast-like morphological appearance. Abnormal mast cells are present in the blood in most cases, with a proportion greater than 10%. Additional tests include measurement of serum tryptase (above 20ng/mL, with values sometimes exceeding 1,000ng/mL), searching for mutations of KIT and phenotyping bone marrow mast cells.
Differential diagnoses include all other acute leukemias and rare cases of basophilic leukemia (see this term).
Management and treatment
Management includes chemotheraphy, with or without interferon alpha or cladribine. Bone marrow transplant is rarely possible, but is sometimes necessary. In cases with splenomegaly with hypersplenism, splenectomy is indicated. Hydroxyurea is a palliative treatment.
The prognosis is very poor and survival time is several months.
- Emergency guidelines
- Français (2013, pdf)