TRISOMY-14 IN MYELODYSPLASTIC SYNDROMES - REPORT OF 2 CASES AND REVIEW OF THE LITERATURE

Objective. - To describe the pathologic features of two cases of myelo dysplastic syndrome associated with trisomy 14 and to summarize the re levant literature. Results. - In both cases, trisomy 14 was identified using conventional cytogenetic and fluorescence in situ hybridization methods. The patients were elderly men, 70 and 77 years old, who pres ented with anemia and thrombocytopenia. According to the French-Americ an-British classification, case 1 was classified as refractory anemia with ringed sideroblasts, and case 2 was classified as chronic myelomo nocytic leukemia. In both cases, the aspirate smears revealed obvious abnormalities in erythroid and megakaryocytic maturation, with more su btle abnormalities in myeloid maturation. The biopsy sections were hyp ercellular, and there was marked myeloid hyperplasia in case 2. Both p atients received only supportive therapy after the diagnosis was estab lished. Clinical follow-up was available for both patients. The patien t in case 1 died 67 months after disease onset of an unrelated illness , and the patient in case 2 was alive at last follow-up, 12 months aft er diagnosis. Literature Review. - Thirty-five cases of trisomy 14 hav e been previously reported in the literature, predominantly in cytogen etics journals, and the description of the pathologic findings for the majority of these cases is limited or not provided. According to publ ished data, the majority of these cases are myelodysplastic syndromes or acute myeloid leukemias associated with myelodysplasia. Conclusions . - The detection of trisomy 14 in the bone marrow strongly correlates with the presence of a myelodysplastic syndrome. The two cases of mye lodysplastic syndrome associated with trisomy 14 we describe here did not exhibit characteristic morphologic findings that might suggest the presence of the cytogenetic abnormality.