Open Access Case report

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

Hilda Rachel Diamond1*, Maria Helena Ornellas2, Alberto Orfao3, Bernadete E Gomes1, Mércia M Campos1, Teresa S Fernandez4, Roberto I da Silva256, Gilda Alves5, Claudia Lage6, Dayse A da Silva2, Arthur Moellmann-Coelho7, Geydson S da Cruz7, Luis Fernando Bouzas8 and Eliana Abdelhay9

Author Affiliations

1 Laboratory of Immunology, Bone Marrow Transplantation Unit, National Cancer Institute, Praça Cruz Vermelha n° 23, 6° andar. Centro, Rio de Janeiro, RJ, 20230-130, Brazil

2 Department of Pathology, Rio de Janeiro State University, Avenida Manoel de Abreu 444, 4° andar -Patologia Geral, Rio de Janeiro, RJ, 20550-170, Brazil

3 Cancer Research Centre (IBMCC-CSIC/USAL), University of Salamanca, Centro de Investigación del Cáncer Paseo de la Universidad de Coimbra s/n37007 Salamanca, Spain

4 Laboratory of Cytogenetics, Bone Marrow Transplantation Unit, National Cancer Institute, Praça Cruz Vermelha n° 23, 6° andar. Centro, Rio de Janeiro, RJ, 20230-130, Brazil

5 Laboratory of Applied Genetics, Hematology Service, National Cancer Institute, Praça Cruz Vermelha n° 23, 6° andar. Centro, Rio de Janeiro, RJ, 20230-130, Brazil

6 Program of Molecular and Structural Biology, Carlos Chagas Filho Biophysics Institute, Rio de Janeiro Federal University, CCS - BLOCO G - SALA G0-031, ILHA DA CIDADE UNIVERSITÁRIA, Rio de Janeiro, RJ, 21941-902, Brazil

7 Hematology Service, National Cancer Institute, Praça Cruz Vermelha n° 23, 8° andar. Centro, Rio de Janeiro, RJ, 20230-130, Brazil

8 Clinical Division, Bone Marrow Transplantation Unit, National Cancer Institute, Praça Cruz Vermelha n° 23, 7° andar. Centro, Rio de Janeiro, RJ, 20230-130, Brazil

9 Stem Cell Laboratory, Bone Marrow Transplantation Unit, National Cancer Institute, Praça Cruz Vermelha n° 23, 6° andar. Centro, Rio de Janeiro, RJ, 20230-130, Brazil

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Journal of Hematology & Oncology 2011, 4:39  doi:10.1186/1756-8722-4-39

Published: 27 September 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.

Keywords:
immunophenotype; cytogenetics; DNA repair; donor origin leukemia