Ann Lab Med.  2013 Mar;33(2):125-129. 10.3343/alm.2013.33.2.125.

A Case of Systemic Mastocytosis Associated with Acute Myeloid Leukemia Terminating as Aleukemic Mast Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation

• Bae MH
• Kim HK
• Park CJ
• Seo EJ
• Park SH
• Cho YU
• Jang S
• Chi HS
• Lee KH

• KMID: 1781312
• DOI: http://doi.org/10.3343/alm.2013.33.2.125

Abstract

In up to 40% of systemic mastocytosis (SM) cases, an associated clonal hematological non-mast cell lineage disease such as AML is diagnosed before, simultaneously with, or after the diagnosis of SM. A 40-yr-old man was diagnosed with AML with t(8;21)(q22;q22). Mast cells were not noted at diagnosis, but appeared as immature forms at relapse. After allogeneic hematopoietic stem cell transplantation (HSCT), leukemic myeloblasts were not observed; however, neoplastic metachromatic blasts strikingly proliferated during the state of bone marrow aplasia, and finally, aleukemic mast cell leukemia developed. As the disease progressed, we observed serial morphologic changes from immature mast cells with myeloblasts to only metachromatic blasts and atypical mast cells as mast cell leukemia; FISH analysis showed that the neoplastic mast cells originated from the same clone as the leukemic myeloblasts of AML.

Keyword

Systemic mastocytosis; Acute myeloid leukemia; Aleukemic mast cell leukemia; Allogeneic hematopoietic stem cell transplantation

MeSH Terms

Adult
Bone Marrow Cells/pathology
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 8
*Hematopoietic Stem Cell Transplantation
Humans
In Situ Hybridization, Fluorescence
Leukemia, Mast-Cell/diagnosis/etiology
Leukemia, Myeloid, Acute/complications/*diagnosis/therapy
Leukocytes, Mononuclear/pathology
Male
Mastocytosis, Systemic/*diagnosis/etiology
Recurrence
Translocation, Genetic
Transplantation, Homologous