Cytogenetics and flow in diagnosis of myeloproliferative disorders – pro

Chronic myeloproliferative disorders (CMPD) are classified according to the WHO classification of 2001 as polycythemia vera (PV), chronic idiopathic myelofibrosis (CIMF), essential thrombocythemia (ET), CMPD/unclassifiable (CMPD-U), chronic neutrophilic leukemia, and chronic eosinophilic leukemia (CEL)/hypereosinophilic syndrome, all to be delineated from BCR/ABL-positive chronic myeloid leukemia (CML). I consider both cytogenetics and flow as not med. appropriate for diagnosis of CMPD. Clonal aberrations are found in 10% of patients with suspected CMPD establishing the diagnosis of a malignant disease but not allowing a secure diagnosis of any particular type of CMPD. A bone marrow would need to be repeated for that to be accomplished.

Cytogenetics are potentially more useful but only if they demonstrate a Philadelphia chromosome. Nowadays, PCR for BRC/ABL is the preferred test to do that and it can be performed on the marrow as well as blood. While some recent articles claim that one or another combination of cytogenetics and flow with other factors can diagnose CMPD, this has not been confirmed in prospective studies or recommended by guidelines. JAK2 mutation is more valuable than either of these two tests.

van de Loosdrecht AA, Alhan C, Béné MC, Della Porta MG, Dräger AM, Feuillard J, et al. Standardization of flow cytometry in myelodysplastic syndromes: report from the first European LeukemiaNet working conference on FCM in MDS. Haematologica. 2009;94:1124–34.


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