Please use this identifier to cite or link to this item: https://ninho.inca.gov.br/jspui/handle/123456789/13860
Title: Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphism
Authors: Diamond, Hilda Rachel
Souza, Maria Helena Ornellas de
Orfao, Alberto
Gomes, Bernadete Evangelho
Campos, Mércia Mendes
Fernandez, Teresa de Souza
Silva, Roberto da
Alves, Gilda
Lage, Cláudia
Silva, Dayse Aparecida da
Coelho, Arthur Moellmann
Cruz, Geydson Silveira da
Bouzas, Luis Fernando da Silva
Abdelhay, Eliana Saul Furquim Werneck
Keywords: Citogenética
Cytogenetics
Reparo do DNA
DNA Repair
Leucemia Mieloide
Leukemia Myeloid
Hipercolesterolemia Familiar Homozigota
Homozygous Familial Hypercholesterolemia
Polimorfismo Genético
Polymorphism Genetic
Transplante de Células
Cell Transplantation
Issue Date: 27-Sep-2011
Abstract: 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 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.
URI: https://ninho.inca.gov.br/jspui/handle/123456789/13860
ISSN: 1756-8722
Appears in Collections:Hospital do Câncer I (HCI)



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