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Case Reports
. 2017:2017:9249302.
doi: 10.1155/2017/9249302. Epub 2017 Nov 26.

Myelodysplasia and Mast Cell Leukemia with t(9;22)

Kathryn J Lago  1 , Matthew P Shupe  2 , William N Hannah  1 , Gopalrao V N Velagaleti  3 , Christina Mendiola  3 , Veronica Ortega  3 , Brian R Haney  2
Affiliations
Case Reports

Myelodysplasia and Mast Cell Leukemia with t(9;22)

Kathryn J Lago et al. Case Rep Oncol Med. 2017.

Abstract

Introduction: Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not have cytogenics performed. Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation.

Case report: An 80-year-old female presented with pancytopenia and was diagnosed with MDS. Over time, she required hospitalizations for platelet transfusions with increased frequency. She developed fatigue and weakness along with gastrointestinal symptoms. On exam, she had diffuse abdominal tenderness and a maculopapular rash. Her lab results revealed a new basophilia. A bone marrow biopsy showed 100% cellularity with many aggregates of mast cells. Chromosomal analysis showed t(9;22) with confirmed BCR/ABL1 fusion by fluorescence in situ hybridization (FISH).

Discussion: MCL has a poor prognosis due to the aggressive nature of the disease and ineffective therapies. Translocation (9;22) is known to be associated with MDS transformations to acute leukemia; however, this translocation has never been reported in MCL. Further research on the relationship between t(9;22) and MCL could lead to development of improved therapeutic options.

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Figures

Figure 1
Figure 1
Peripheral smear with mast cell.
Figure 2
Figure 2
Hypercellular bone marrow with aggregates of mast cells.
Figure 3
Figure 3
Bone marrow aspirate with degranulated mast cell.
Figure 4
Figure 4
Tryptase stain of bone marrow.
Figure 5
Figure 5
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).
Figure 6
Figure 6
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.
See this image and copyright information in PMC

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