Bone marrow transplantation in a patient with chronic myeloid leukemia and achondroplasia

Abstract

A 25-year-old female with achondroplastic dwarfism, diagnosed when she was six months old, was diagnosed with chronic myeloid leukemia (CML) in chronic phase with 9;22 translocation, A2B3 gene rearrangement and a Sokal index of 0.5. A recombinant interferon-alpha 2A treatment was started in October '94, which obtained a hematological, but not a karyotypic, response at the 6th and 12th month. In August '94, the patient was submitted to allogeneic bone marrow transplantation (alloBMT) from a 36-year-old matched sibling. The procedure was well tolerated. Disease-free survival (DFS) and overall survival (OS) were 21 and 39 months, respectively. We have not found any reported cases of achondroplastic patients submitted to alloBMT in the literature or in the IBMT Registry.