Isolated trisomy 2 in hematopoietic malignancies is rare, having been reported in only eight cases. Of these cases, the majority are older males. The underlying hematologic malignancies range from myelodysplastic syndrome (MDS) to acute myeloid leukemia (AML). The molecular pathogenesis and prognostic significance of isolated trisomy 2 remains unknown. Herein, we report 11 cases of isolated trisomy 2 in hematologic disorders seen in the Mayo Clinic Cytogenetics laboratory from 1996-2012. The majority were older males between the ages of 63-93 years. The underlying bone marrow pathologic diagnoses ranged from no diagnostic features of malignancy to AML. Our data suggest that isolated trisomy 2 could represent an age-related phenomenon since all 11 cases were age 63 and over. It appears that isolated trisomy 2 harbors little prognostic significance and that, instead, the prognostic significance is driven by the underlying pathologic diagnosis. For example, whereas 3 of the cases with AML survived only 7-10 weeks post-bone marrow biopsy, 1 of the cases without diagnostic features of malignancy survived 10 additional years. Therefore, trisomy 2 as a sole abnormality should not be considered as definitive evidence for a myeloid neoplasm in the absence of diagnostic morphologic criteria.
Keywords: AML; MDS; PMF; Trisomy 2.
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