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Fanconi Anemia patient with AML1 gene amplification and monosomy 7 in pre-transplant myelodysplasia (MDS) relapsing 7 years after successful allo-SCT

Bone Marrow Transplantation volume 42, pages 555–557 (2008)Cite this article

Recently, we described 11 Fanconi anemia (FA) patients with myelodysplasia (MDS), or leukemia and/or clonal chromosomal abnormalities on initial bone marrow examination1 who underwent allo-SCT after 450 cGy TBI in addition to CY 20 mg/kg. At the time of the report, 10 patients were alive, fully engrafted and without evidence of disease.

Shortly after publication and 7 years after successful SCT, one of the reported patients (patient UPN 990, now 19 years of age) presented for routine check-up. Her laboratory work-up revealed pancytopenia and subsequent bone marrow examination showed 40% cellularity with dysplastic changes in granulocyte and erythroid precursors and 30% myeloid blasts. Diagnosis of AML was made based on morphologic and immunophenotypic analysis according to the FAB criteria; flow cytometric immunophenotyping revealed positivity of CD33, CD34, CD13, CD117 and CD56. At the same time, chimerism (STR) studies on peripheral blood demonstrated the presence of 100% donor cells in both the lymphoid and myeloid lineages. However, sex-mismatch FISH studies on the bone marrow specimen without preceding cell separation showed 65% donor cells and 35% recipient cells.

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Authors and Affiliations

  1. Department of Pediatric Hematology–Oncology, Section of Pediatric Stem Cell Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

    M Ayas

  2. Department of Pathology and Laboratory Medicine, Section of Cytogenetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

    C Walter

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  1. M Ayas
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Correspondence to M Ayas.

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Ayas, M., Walter, C. Fanconi Anemia patient with AML1 gene amplification and monosomy 7 in pre-transplant myelodysplasia (MDS) relapsing 7 years after successful allo-SCT. Bone Marrow Transplant 42, 555–557 (2008). https://doi.org/10.1038/bmt.2008.204

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