TAMからMDSに移行した表現型正常のモザイクダウン症の1例

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  • A Patient with Normal Phenotype Mosaic Down's Syndrome Who Transformed from TAM to MDS.

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Transient abnormal myelopoiesis (TAM) is sometimes seen in neonates with Down's syndrome. Firstly, the characteristic phenomenon in TAM is the more conspicuous excess of blasts and leukocytosis in the peripheral blood than in the marrow. Secondarily, these blastic cells spontaneously disappear within several weeks. Recently, there were some patients who developed acute leukemia after spontaneous regression of TAM reported in the literature. We report an infant with mosaic Down's syndrome (normal phenotype and partial 21 trisomy in PHA-stimulated peripheral lymphocytes) who transformed to MDS at 16 months after spontaneous regression of TAM. The only chromosomal abnormality in the neonatal period was trisomy 21 in hemopoietic cells. Although the trisomy 21 of bone marrow disappeared as TAM regressed, he showed transformation to MDS, namely refractory anemia with an excess of blasts in association with a hyperdiploid chromosome of 54, XY, 21 tetrasomy in the peripheral blood. In the repeated chromosomal analysis, the patient showed clonal evolution of 54, XY, +21, 7p- and 12p- in the bone marrow cells. Chemotherapy-induced marrow remission successfully and the abnormal clones disappeared from both the bone marrow and the peripheral blood. The trisomy 21 was not found in the PHA-stimulated peripheral blood lymphocytes any more.

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