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

Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not havecytogenics performed. Furthermore, there is no consistent chromosomal abnormality identi3ed in MCL. ,is is the 3rst reportedcase of MCL with a (9;22) translocation.CaseReport. An 80-year-old female presented with pancytopenia and was diagnosed withMDS. Over time, she required hospitalizations for platelet transfusions with increased frequency. She developed fatigue andweakness along with gastrointestinal symptoms. On exam, she had diffuse abdominal tenderness and a maculopapular rash. Herlab 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 con3rmed BCR/ABL1 fusion by @uorescence 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 beassociated with MDS transformations to acute leukemia; however, this translocation has never been reported in MCL. Furtherresearch on the relationship between t(9;22) and MCL could lead to development of improved therapeutic options.