Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome
Most myelodysplastic syndromes (MDS) present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. In addition, certain translocations are more commonly seen in MDS than others, but to our knowledge, the presence of t(6;15) has not been reported in MD...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2015/318545 |
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| author | Saba F. Ali Rebecca J. Sonu Denis M. Dwyre Brian A. Jonas Hooman H. Rashidi |
| author_facet | Saba F. Ali Rebecca J. Sonu Denis M. Dwyre Brian A. Jonas Hooman H. Rashidi |
| author_sort | Saba F. Ali |
| collection | DOAJ |
| description | Most myelodysplastic syndromes (MDS) present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. In addition, certain translocations are more commonly seen in MDS than others, but to our knowledge, the presence of t(6;15) has not been reported in MDS, specifically therapy-related MDS (t-MDS) cases. Patients with t-MDS, a group of heterogeneous stem cell related disorders resulting as a latent complication of cytotoxic and/or radiation therapy, generally tend to have a poorer prognosis than de novo MDS. We present a unique case of a patient who initially presented with acute myeloid leukemia (AML) with a normal karyotype and FLT3-ITD and NPM1 mutations. The patient was successfully treated with chemotherapy and an autologous bone marrow transplant but subsequently developed a new FLT3-ITD negative t-MDS with a unique translocation, t(6;15)(q12;q15), three years after transplant. To our knowledge, this unique sole translocation has never been reported in MDS or t-MDS and given her successful response to treatment and remission, presence of this translocation may have some prognostic value. |
| format | Article |
| id | doaj-art-4595ebaef15f4cd8bd1cf1867e0f4ae6 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-4595ebaef15f4cd8bd1cf1867e0f4ae62025-02-03T00:59:50ZengWileyCase Reports in Hematology2090-65602090-65792015-01-01201510.1155/2015/318545318545Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic SyndromeSaba F. Ali0Rebecca J. Sonu1Denis M. Dwyre2Brian A. Jonas3Hooman H. Rashidi4Department of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USADepartment of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USADepartment of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USADepartment of Internal Medicine, Division of Hematology and Oncology, University of California Davis Medical Center, Sacramento, CA 95817, USADepartment of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USAMost myelodysplastic syndromes (MDS) present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. In addition, certain translocations are more commonly seen in MDS than others, but to our knowledge, the presence of t(6;15) has not been reported in MDS, specifically therapy-related MDS (t-MDS) cases. Patients with t-MDS, a group of heterogeneous stem cell related disorders resulting as a latent complication of cytotoxic and/or radiation therapy, generally tend to have a poorer prognosis than de novo MDS. We present a unique case of a patient who initially presented with acute myeloid leukemia (AML) with a normal karyotype and FLT3-ITD and NPM1 mutations. The patient was successfully treated with chemotherapy and an autologous bone marrow transplant but subsequently developed a new FLT3-ITD negative t-MDS with a unique translocation, t(6;15)(q12;q15), three years after transplant. To our knowledge, this unique sole translocation has never been reported in MDS or t-MDS and given her successful response to treatment and remission, presence of this translocation may have some prognostic value.http://dx.doi.org/10.1155/2015/318545 |
| spellingShingle | Saba F. Ali Rebecca J. Sonu Denis M. Dwyre Brian A. Jonas Hooman H. Rashidi Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome Case Reports in Hematology |
| title | Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome |
| title_full | Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome |
| title_fullStr | Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome |
| title_full_unstemmed | Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome |
| title_short | Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome |
| title_sort | translocation 6 15 q12 q15 a novel mutation in a patient with therapy related myelodysplastic syndrome |
| url | http://dx.doi.org/10.1155/2015/318545 |
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