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Concomitant Isochromosome 17q and Trisomy 14 in a Patient with Myelodysplastic Syndrome in Leukemic Transformation

Address correspondence to Jong Rak Choi, M.D., Ph.D., Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea; tel 82 2 2228 2445; fax 82 2 313 0956; e-mail cjr0606{at}yuhs.ac.

We describe a novel case of simultaneous karyotypic abnormalities of isochromosome 17q and trisomy 14 in a patient with myelodysplastic syndrome (MDS) in leukemic transformation. A 66-yr-old Korean man was admitted to Severance Hospital for evaluation of pancytopenia. On the basis of bone marrow studies at 3 different stages, he was diagnosed with MDS in leukemic transformation. Chromosome karyotyping repeatedly showed the same main clonal abnormalities, including isochromosome 17q and trisomy 14. Isochromosome 17q and trisomy 14 have each been reported as rare, nonrandom recurrent chromosomal abnormalities in patients with MDS showing a poor prognosis. To our knowledge, this is the first report of concurrent i(17)(q10) and trisomy 14 in a patient with MDS in leukemic transformation.

Keywords: isochromosome 17q, trisomy 14, myelodysplastic syndrome, leukemic transformation