Please use this identifier to cite or link to this item: https://ninho.inca.gov.br/jspui/handle/123456789/13860
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dc.contributor.authorDiamond, Hilda Rachel-
dc.contributor.authorSouza, Maria Helena Ornellas de-
dc.contributor.authorOrfao, Alberto-
dc.contributor.authorGomes, Bernadete Evangelho-
dc.contributor.authorCampos, Mércia Mendes-
dc.contributor.authorFernandez, Teresa de Souza-
dc.contributor.authorSilva, Roberto da-
dc.contributor.authorAlves, Gilda-
dc.contributor.authorLage, Cláudia-
dc.contributor.authorSilva, Dayse Aparecida da-
dc.contributor.authorCoelho, Arthur Moellmann-
dc.contributor.authorCruz, Geydson Silveira da-
dc.contributor.authorBouzas, Luis Fernando da Silva-
dc.contributor.authorAbdelhay, Eliana Saul Furquim Werneck-
dc.date.accessioned2023-05-22T14:21:29Z-
dc.date.available2023-05-22T14:21:29Z-
dc.date.issued2011-09-27-
dc.identifier.issn1756-8722-
dc.identifier.urihttps://ninho.inca.gov.br/jspui/handle/123456789/13860-
dc.description.abstractA 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 CD45low CD33high, CD117+ , CD13-/+, HLA Drhigh, CD123high, 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.pt_BR
dc.subjectCitogenéticapt_BR
dc.subjectCytogeneticspt_BR
dc.subjectReparo do DNApt_BR
dc.subjectDNA Repairpt_BR
dc.subjectLeucemia Mieloidept_BR
dc.subjectLeukemia Myeloidpt_BR
dc.subjectHipercolesterolemia Familiar Homozigotapt_BR
dc.subjectHomozygous Familial Hypercholesterolemiapt_BR
dc.subjectPolimorfismo Genéticopt_BR
dc.subjectPolymorphism Geneticpt_BR
dc.subjectTransplante de Célulaspt_BR
dc.subjectCell Transplantationpt_BR
dc.titleAcute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphismpt_BR
dc.TypeArticlept_BR
Appears in Collections:Hospital do Câncer I (HCI)



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