Myelodysplasia and Mast Cell Leukemia with t(9;22)
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. Cas...
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| Format: | Article |
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Wiley
2017-01-01
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| Series: | Case Reports in Oncological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2017/9249302 |
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| author | Kathryn J. Lago Matthew P. Shupe William N. Hannah Gopalrao V. N. Velagaleti Christina Mendiola Veronica Ortega Brian R. Haney |
| author_facet | Kathryn J. Lago Matthew P. Shupe William N. Hannah Gopalrao V. N. Velagaleti Christina Mendiola Veronica Ortega Brian R. Haney |
| author_sort | Kathryn J. Lago |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f0b58e34468a4ccf88b4cd7546d2fe8b |
| institution | Kabale University |
| issn | 2090-6706 2090-6714 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Oncological Medicine |
| spelling | doaj-art-f0b58e34468a4ccf88b4cd7546d2fe8b2025-02-03T05:48:22ZengWileyCase Reports in Oncological Medicine2090-67062090-67142017-01-01201710.1155/2017/92493029249302Myelodysplasia and Mast Cell Leukemia with t(9;22)Kathryn J. Lago0Matthew P. Shupe1William N. Hannah2Gopalrao V. N. Velagaleti3Christina Mendiola4Veronica Ortega5Brian R. Haney6Internal Medicine Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USAHematology and Oncology Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USAInternal Medicine Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USADepartment of Pathology, University of Texas Health Science Center, San Antonio, TX, USADepartment of Pathology, University of Texas Health Science Center, San Antonio, TX, USADepartment of Pathology, University of Texas Health Science Center, San Antonio, TX, USAHematology and Oncology Service, San Antonio Military Medical Center, Fort Sam Houston, San Antonio, TX, USAIntroduction. 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.http://dx.doi.org/10.1155/2017/9249302 |
| spellingShingle | Kathryn J. Lago Matthew P. Shupe William N. Hannah Gopalrao V. N. Velagaleti Christina Mendiola Veronica Ortega Brian R. Haney Myelodysplasia and Mast Cell Leukemia with t(9;22) Case Reports in Oncological Medicine |
| title | Myelodysplasia and Mast Cell Leukemia with t(9;22) |
| title_full | Myelodysplasia and Mast Cell Leukemia with t(9;22) |
| title_fullStr | Myelodysplasia and Mast Cell Leukemia with t(9;22) |
| title_full_unstemmed | Myelodysplasia and Mast Cell Leukemia with t(9;22) |
| title_short | Myelodysplasia and Mast Cell Leukemia with t(9;22) |
| title_sort | myelodysplasia and mast cell leukemia with t 9 22 |
| url | http://dx.doi.org/10.1155/2017/9249302 |
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