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Eur J Haematol. 2008 Apr;80(4):318-21. Epub 2007 Dec 18.

Peripheral blood cytogenetic studies in hematological neoplasms: predictors of obtaining metaphases for analysis.

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  • 1Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.


Peripheral blood (PB) is sometimes used in place of bone marrow (BM) for cytogenetic studies during the evaluation of hematologic malignancies. A total of 242 PB cytogenetic studies from adult patients were performed: clinical diagnosis was a myeloid neoplasm in 169 patients (70%), lymphoid or plasma cell neoplasm in 50 (21%), and a benign/reactive cytopenia or leukocytosis in 23 (9%). PB cytogenetic studies resulted in at least two analyzable metaphases in 142 of the 242 study cases (59%); in univariate analysis, this was predicted by the specific clinical diagnosis (P < 0.0001), presence and degree of circulating myeloid progenitor cells or blasts of any lineage (P < 0.0001), higher leukocyte count (P < 0.001), lower platelet count (P = 0.003), lower hemoglobin level (P = 0.002), and presence of palpable splenomegaly (P = 0.002). In multivariable analysis, only the presence of circulating myeloid progenitor cells or blasts sustained significance and this was consistent with the high yield rates seen in primary myelofibrosis (PMF) (80%), post-PV/ET PMF (85%), acute myeloid leukemia (76%), and acute lymphoblastic leukemia (80%) in contrast with the low rates seen in ET (0%) and PV (2%). In 104 cases, BM cytogenetic studies were performed within 1 month of the PB cytogenetic studies; an abnormal BM cytogenetic finding was another independent predictor of a successful PB study (P = 0.002). PB cytogenetic studies are most appropriate in diseases of adults characterized by presence of circulating myeloid progenitors or blasts; the yield otherwise is too small to be cost-effective.

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