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Case Reports in Oncological Medicine
Volume 2017 (2017), Article ID 9249302, 5 pages
Case Report

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

1Internal Medicine Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USA
2Hematology and Oncology Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USA
3Department of Pathology, University of Texas Health Science Center, San Antonio, TX, USA

Correspondence should be addressed to Kathryn J. Lago

Received 28 July 2017; Revised 13 October 2017; Accepted 25 October 2017; Published 26 November 2017

Academic Editor: Peter F. Lenehan

Copyright © 2017 Kathryn J. Lago et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.