Reproducibility of diagnosis in patients with myelodysplastic syndrome

Abstract

16506 Background: The myelodysplastic syndromes (MDS) have been considered notoriously difficult with regard to reliability of diagnosis and proper classification. The diagnosis and subclassification of MDS is based on hematopathology studies on the peripheral blood and marrow, along with cytogenetic and clinical information. Determination of single or multiple lineage dysplasia, percentage of myeloblasts, grading of cellularity, fibrosis, and iron content are essential for establishing the diagnosis of MDS. Methods: We reviewed the diagnosis of 112 patients who were referred to MD Anderson Cancer Center (MDACC) with an outside diagnosis of MDS. Results: Between July and December 2005, 112 patients were referred to MDACC with a diagnosis of MDS (bone marrow blast percentage <30%). Upon review of bone marrow studies performed at MDACC, diagnosis of MDS was confirmed in 83 patients. Acute myelogenous leukemia (AML) was diagnosed in 11 patients, and 3 patients were diagnosed to have myeloproliferative disorder (MPD) or chronic myelomonocytic leukemia (CMML). Alternate diagnosis offered in 18 patients included other cause of anemia (6), normal marrow (3), large granular lymphocyte leukemia (2), uncertain (2), immune thrombocytopenia (1), and multiple myeloma (1). Excluding 14 patients with AML or MPD/CMML (since they may represent natural progression of disease), diagnosis other than MDS was established in 15% (18/98) of patients. Conclusions: Upon review, diagnosis other than MDS is made in a significant percentage of patients referred with a diagnosis of MDS. As such, repeat blood and marrow workup and evaluation by more than one hematopathologist increases the accuracy of diagnosis in MDS and should be mandatory for clinical trials in MDS. No significant financial relationships to disclose.