Mast cell leukemia

作者：Georgin Lavialle Sophie; Lhermitte Ludovic; Dubreuil Patrice; Chandesris Marie Olivia; Hermine Olivier; Damaj Gandhi^*

来源：Blood, 2013, 121(8): 1285-1295.

DOI：10.1182/blood-2012-07-442400

Mast cell leukemia (MCL) is a very rare form of aggressive systemic mastocytosis accounting for %26lt; 1% of all mastocytosis. It may appear de novo or secondary to previous mastocytosis and shares more clinicopathologic aspects with systemic mastocytosis than with acute myeloid leukemia. Symptoms of mast cell activation-involvement of the liver, spleen, peritoneum, bones, and marroware frequent. Diagnosis is based on the presence of %26gt;= 20% atypical mast cells in the marrow or %26gt;= 10% in the blood; however, an aleukemic variant is frequently encountered in which the number of circulating mast cells is %26lt; 10%. The common phenotypic features of pathologic mast cells encountered in most forms of mastocytosis are unreliable in MCL. Unexpectedly, non-KIT D816V mutations are frequent and therefore, complete gene sequencing is necessary. Therapy usually fails and the median survival time is %26lt; 6 months. The role of combination therapies and bone marrow transplantation needs further investigation.

• 出版日期2013-2-21