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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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Autores principales: Ali, Saba F., Sonu, Rebecca J., Dwyre, Denis M., Jonas, Brian A., Rashidi, Hooman H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698528/
https://www.ncbi.nlm.nih.gov/pubmed/26798525
http://dx.doi.org/10.1155/2015/318545
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author Ali, Saba F.
Sonu, Rebecca J.
Dwyre, Denis M.
Jonas, Brian A.
Rashidi, Hooman H.
author_facet Ali, Saba F.
Sonu, Rebecca J.
Dwyre, Denis M.
Jonas, Brian A.
Rashidi, Hooman H.
author_sort Ali, Saba F.
collection PubMed
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.
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spelling pubmed-46985282016-01-21 Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome Ali, Saba F. Sonu, Rebecca J. Dwyre, Denis M. Jonas, Brian A. Rashidi, Hooman H. Case Rep Hematol Case Report 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. Hindawi Publishing Corporation 2015 2015-12-21 /pmc/articles/PMC4698528/ /pubmed/26798525 http://dx.doi.org/10.1155/2015/318545 Text en Copyright © 2015 Saba F. Ali et al. https://creativecommons.org/licenses/by/4.0/ 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.
spellingShingle Case Report
Ali, Saba F.
Sonu, Rebecca J.
Dwyre, Denis M.
Jonas, Brian A.
Rashidi, Hooman H.
Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698528/
https://www.ncbi.nlm.nih.gov/pubmed/26798525
http://dx.doi.org/10.1155/2015/318545
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