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Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms

A 54-year-old woman was diagnosed with infiltrative ductal breast carcinoma. Two years after treatment, the patient developed an acute myeloid leukemia (AML) which harbored del(11q23) in 8% of the blast cells. The patient was submitted for allogeneic stem cell transplantation (aSCT) from her HLA-com...

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Autores principales: Diamond, Hilda Rachel, Ornellas, Maria Helena, Orfao, Alberto, Gomes, Bernadete E, Campos, Mércia M, Fernandez, Teresa S, da Silva, Roberto I, Alves, Gilda, Lage, Claudia, da Silva, Dayse A, Moellmann-Coelho, Arthur, da Cruz, Geydson S, Bouzas, Luis Fernando, Abdelhay, Eliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197559/
https://www.ncbi.nlm.nih.gov/pubmed/21951951
http://dx.doi.org/10.1186/1756-8722-4-39
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author Diamond, Hilda Rachel
Ornellas, Maria Helena
Orfao, Alberto
Gomes, Bernadete E
Campos, Mércia M
Fernandez, Teresa S
da Silva, Roberto I
Alves, Gilda
Lage, Claudia
da Silva, Dayse A
Moellmann-Coelho, Arthur
da Cruz, Geydson S
Bouzas, Luis Fernando
Abdelhay, Eliana
author_facet Diamond, Hilda Rachel
Ornellas, Maria Helena
Orfao, Alberto
Gomes, Bernadete E
Campos, Mércia M
Fernandez, Teresa S
da Silva, Roberto I
Alves, Gilda
Lage, Claudia
da Silva, Dayse A
Moellmann-Coelho, Arthur
da Cruz, Geydson S
Bouzas, Luis Fernando
Abdelhay, Eliana
author_sort Diamond, Hilda Rachel
collection PubMed
description A 54-year-old woman was diagnosed with infiltrative ductal breast carcinoma. Two years after treatment, the patient developed an acute myeloid leukemia (AML) which harbored del(11q23) in 8% of the blast cells. The patient was submitted for allogeneic stem cell transplantation (aSCT) from her HLA-compatible sister. Ten months after transplantation, she relapsed with an AML with basophilic maturation characterized by CD45(low )CD33(high), CD117(+), CD13(-/+), HLA Dr(high), CD123(high), and CD203c(+ )blast cells lacking expression of CD7, CD10, CD34, CD15, CD14, CD56, CD36, CD64, and cytoplasmic tryptase. Karyotype analysis showed the emergence of a new clone with t(2;14) and FISH analysis indicated the presence of MLL gene rearrangement consistent with del(11q23). Interestingly, AML blast cell DNA tested with microsatellite markers showed the same pattern as the donor's, suggesting that this AML emerged from donor cells. Additionally, polymorphisms of the XPA, XPD, XRCC1, XRCC3 and RAD51 DNA repair genes revealed three unfavorable alleles with low DNA repair capacity. In summary, we report the first case of AML involving XPD and XRCC3 polymorphisms from donor origin following allogeneic stem cell transplantation and highlight the potential need for careful analysis of DNA repair gene polymorphisms in selecting candidate donors prior to allogeneic stem cell transplantation.
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spelling pubmed-31975592011-10-21 Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms Diamond, Hilda Rachel Ornellas, Maria Helena Orfao, Alberto Gomes, Bernadete E Campos, Mércia M Fernandez, Teresa S da Silva, Roberto I Alves, Gilda Lage, Claudia da Silva, Dayse A Moellmann-Coelho, Arthur da Cruz, Geydson S Bouzas, Luis Fernando Abdelhay, Eliana J Hematol Oncol Case Report A 54-year-old woman was diagnosed with infiltrative ductal breast carcinoma. Two years after treatment, the patient developed an acute myeloid leukemia (AML) which harbored del(11q23) in 8% of the blast cells. The patient was submitted for allogeneic stem cell transplantation (aSCT) from her HLA-compatible sister. Ten months after transplantation, she relapsed with an AML with basophilic maturation characterized by CD45(low )CD33(high), CD117(+), CD13(-/+), HLA Dr(high), CD123(high), and CD203c(+ )blast cells lacking expression of CD7, CD10, CD34, CD15, CD14, CD56, CD36, CD64, and cytoplasmic tryptase. Karyotype analysis showed the emergence of a new clone with t(2;14) and FISH analysis indicated the presence of MLL gene rearrangement consistent with del(11q23). Interestingly, AML blast cell DNA tested with microsatellite markers showed the same pattern as the donor's, suggesting that this AML emerged from donor cells. Additionally, polymorphisms of the XPA, XPD, XRCC1, XRCC3 and RAD51 DNA repair genes revealed three unfavorable alleles with low DNA repair capacity. In summary, we report the first case of AML involving XPD and XRCC3 polymorphisms from donor origin following allogeneic stem cell transplantation and highlight the potential need for careful analysis of DNA repair gene polymorphisms in selecting candidate donors prior to allogeneic stem cell transplantation. BioMed Central 2011-09-27 /pmc/articles/PMC3197559/ /pubmed/21951951 http://dx.doi.org/10.1186/1756-8722-4-39 Text en Copyright ©2011 Diamond et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Diamond, Hilda Rachel
Ornellas, Maria Helena
Orfao, Alberto
Gomes, Bernadete E
Campos, Mércia M
Fernandez, Teresa S
da Silva, Roberto I
Alves, Gilda
Lage, Claudia
da Silva, Dayse A
Moellmann-Coelho, Arthur
da Cruz, Geydson S
Bouzas, Luis Fernando
Abdelhay, Eliana
Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms
title Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms
title_full Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms
title_fullStr Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms
title_full_unstemmed Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms
title_short Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms
title_sort acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline xpd and xrcc3 homozygous polymorphisms
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197559/
https://www.ncbi.nlm.nih.gov/pubmed/21951951
http://dx.doi.org/10.1186/1756-8722-4-39
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