Late appearance of t(1;19)(q11;q11) in myelodysplastic syndrome associated with dysplastic eosinophilia and pulmonary alveolar proteinosis

Abstract

We report a case of myelodysplastic syndrome (MDS), which developed marked eosinophilia and pulmonary alveolar proteinosis after the appearance of t(1;19)(q11;q11). Chromosomal analysis of the peripheral eosinophils identified the same chromosome abnormality in all metaphases to that of bone marrow blast cells. Review of the literature revealed three reported cases of concurrent MDS and pulmonary alveolar proteinosis. We reviewed four cases of concurrent MDS and pulmonary alveolar proteinosis, including the present case. Interestingly, all but one of these patients also had evidence of eosinophilia and abnormality of chromosome 1p. These findings, together with morphologic abnormalities of eosinophils observed in this case, indicate clonal involvement of eosinophils in the MDS clone, and that the eosinophilia was derived from the neoplastic clone with the translocation. We postulate that this chromosomal rearrangement is involved in the development of eosinophilia and pulmonary alveolar proteinosis in MDS.