PMID- 29318069 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220331 IS - 2090-6706 (Print) IS - 2090-6714 (Electronic) VI - 2017 DP - 2017 TI - Myelodysplasia and Mast Cell Leukemia with t(9;22). PG - 9249302 LID - 10.1155/2017/9249302 [doi] LID - 9249302 AB - 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. FAU - Lago, Kathryn J AU - Lago KJ AUID- ORCID: 0000-0002-3951-1938 AD - Internal Medicine Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USA. FAU - Shupe, Matthew P AU - Shupe MP AD - Hematology and Oncology Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USA. FAU - Hannah, William N AU - Hannah WN AD - Internal Medicine Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USA. FAU - Velagaleti, Gopalrao V N AU - Velagaleti GVN AUID- ORCID: 0000-0003-2811-8185 AD - Department of Pathology, University of Texas Health Science Center, San Antonio, TX, USA. FAU - Mendiola, Christina AU - Mendiola C AD - Department of Pathology, University of Texas Health Science Center, San Antonio, TX, USA. FAU - Ortega, Veronica AU - Ortega V AD - Department of Pathology, University of Texas Health Science Center, San Antonio, TX, USA. FAU - Haney, Brian R AU - Haney BR AD - Hematology and Oncology Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USA. LA - eng PT - Case Reports DEP - 20171126 PL - United States TA - Case Rep Oncol Med JT - Case reports in oncological medicine JID - 101581035 PMC - PMC5727626 EDAT- 2018/01/11 06:00 MHDA- 2018/01/11 06:01 PMCR- 2017/11/26 CRDT- 2018/01/11 06:00 PHST- 2017/07/28 00:00 [received] PHST- 2017/10/13 00:00 [revised] PHST- 2017/10/25 00:00 [accepted] PHST- 2018/01/11 06:00 [entrez] PHST- 2018/01/11 06:00 [pubmed] PHST- 2018/01/11 06:01 [medline] PHST- 2017/11/26 00:00 [pmc-release] AID - 10.1155/2017/9249302 [doi] PST - ppublish SO - Case Rep Oncol Med. 2017;2017:9249302. doi: 10.1155/2017/9249302. Epub 2017 Nov 26.