Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms. | Diamond et al. Journal of Hematology Oncology 2011 4 39 http content 4 1 39 JOURNAL OF HEMATOLOGY ONCOLOGY CASE REPORT Open Access Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms 1 23 1 1 Hilda Rachel Diamond Maria Helena Ornellas Alberto Orfao Bernadete E Gomes Mércia M Campos Teresa S Fernandez4 Roberto I da Silva2 5 6 Gilda Alves5 Claudia Lage6 Dayse A da Silva2 Arthur Moellmann-Coelho7 Geydson S da Cruz7 Luis Fernando Bouzas8 and Eliana Abdelhay9 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. Keywords immunophenotype cytogenetics DNA repair donor origin
