PMC5727626_01
Peripheral smear with mast cell.
CRIONM2017-9249302.001.jpg
PMC5727626_01_CRIONM2017-9249302.001.jpg
fig1
The peripheral blood smear showed 12% mast cells (Figure 1).
Hypercellular bone marrow with aggregates of mast cells.
CRIONM2017-9249302.002.jpg
PMC5727626_01_CRIONM2017-9249302.002.jpg
fig2
Her bone marrow biopsy showed 100% cellularity with aggregates of interstitial, perivascular, and paratrabecular mast cells in fibrotic stroma with spindling (Figure 2).
Bone marrow aspirate with degranulated mast cell.
CRIONM2017-9249302.003.jpg
PMC5727626_01_CRIONM2017-9249302.003.jpg
fig3
The mast cells showed degranulation with monolobated nuclei and some having blast-like chromatin (Figure 3).
Tryptase stain of bone marrow.
CRIONM2017-9249302.004.jpg
PMC5727626_01_CRIONM2017-9249302.004.jpg
fig4
A tryptase stain was diffusely taken up in the bone marrow (Figure 4).
Karyotype from the 2014 bone marrow aspirate after diagnosis of transformation to mast cell leukemia. The arrows point to the t(9;22) and arrowhead to the del(20q).
CRIONM2017-9249302.005.jpg
PMC5727626_01_CRIONM2017-9249302.005.jpg
fig5
However, 7 of the 17 cells also showed the characteristic t(9;22) (Figure 5).
Metaphase with FISH for ASS1 (spectrum aqua)/ABL1 (spectrum orange)/BCR (spectrum green). The arrows point to the 2 fusion signals on der(9) and der(22). The other fusion signal on normal chromosome 9 is the result of juxtaposition of ASS1 (spectrum aqua) with ABL1 (spectrum orange) and does not represent the typical fusion seen with BCR/ABL1.
CRIONM2017-9249302.006.jpg
PMC5727626_01_CRIONM2017-9249302.006.jpg
fig6
Interphase FISH analysis confirmed the presence of BCR/ABL1 fusion in 20% of the nuclei and also demonstrated a 20q deletion in 91.5% of the nuclei (Figure 6).