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.
Highlights
Breast cancer is the most frequent malignancy in women [1]
We report a rare case of a donor-related secondary acute myeloid leukemia (AML) with basophilic maturation post-allogeneic stem cell transplantation in a patient with prior history of secondary AML derived from primary breast cancer chemotherapy
To our knowledge this is the first case reported in the literature of a donor cell-derived AML secondary to breast cancer treatment and allogeneic stem cell transplantation associated with unfavourable DNA repair gene polymorphisms
Summary
Hilda Rachel Diamond1*, Maria Helena Ornellas, Alberto Orfao, Bernadete E Gomes, Mércia M Campos, Teresa S Fernandez, Roberto I da Silva, Gilda Alves, Claudia Lage, Dayse A da Silva, Arthur Moellmann-Coelho, Geydson S da Cruz, Luis Fernando Bouzas and Eliana Abdelhay
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