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

Figure

• 

  Fig. 1 Serial findings in peripheral blood (PB), bone marrow (BM) aspirate (Wright stain, ×1,000), and a BM biopsy specimen (tryptase immunohistochemical stain, ×40) at relapse (A), day 29 post hematopoietic stem cell transplantation (HSCT) (B), and day 49 post-HSCT (C). (A-1) A leukemic myeloblast (left) and an immature mast cell with inconspicuous nucleoli (right) in PB. (A-2) An immature mast cell (left), and a leukemic myeloblast (right) in BM aspirate. (A-3) Hypercellular marrow with interstitial infiltration of mast cells in a BM biopsy specimen. (B-1) A metachromatic blast with a high nuclear-to-cytoplasmic (N/C) ratio, fine nuclear chromatin, inconspicuous nucleoli, hypogranular cytoplasm, and variable number of metachromatic granules in PB. (B-2) Metachromatic blasts in BM aspirate. (B-3) Hypercellular marrow with interstitial and focally aggregated infiltration of metachromatic blasts in a BM biopsy specimen. (C-1) and (C-2) Atypical mast cells with bilobed or polylobed nuclei, high or low N/C ratio, relatively dense nuclear chromatin, no nucleoli, pale cytoplasm, and abundant metachromatic granules in BM aspirate. (C-3) Hypercellular marrow with packed infiltration of atypical mast cells in a BM biopsy specimen.

• 

  Fig. 2 Immunophenotypic findings of bone marrow aspirate at relapse (A) and on day 49 post-HSCT (B). (A) Leukemic myeloblasts with CD45 intermediate expression show the positivity of immature myeloid markers (CD34 and CD117) at relapse. (B) Atypical mast cells with CD45 intermediate to bright expression show the positivity of neoplastic mast cell markers (CD117 and CD25) on day 49 post-HSCT.Abbreviation: SSC, side scatter.

• 

  Fig. 3 Interphase FISH using Vysis RUNX1/RUNX1T1 Dual Color, Dual Fusion Translocation Probe (Abbott) on day 49 post-HSCT. The 1 green (RUNX1 probe on 21q22), 1 orange (RUNX1T1 probe on 8q22), and 2 fusion signals were consistent with RUNX1/RUNX1T1 rearrangement.

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