Abstract
Cytogenetics is essential in myeloid neoplasms (MN) and pre-analytical variables are important for karyotyping. We assessed the relationship between pre-analytical variables (time from collection to sample processing, material type, sample cellularity, and diagnosis) and failures of karyotyping. Bone marrow (BM, n=352) and peripheral blood (PB, n=69) samples were analyzed from acute myeloid leukemia (n=113), myelodysplastic syndromes (n=73), myelodysplastic syndromes/myeloproliferative neoplasms (n=17), myeloproliferative neoplasms (n=137), and other with conclusive diagnosis (n=6), and reactive disorders/no conclusive diagnosis (n=75). The rate of unsuccessful karyotyping was 18.5% and was associated with the use of PB and a low number of nucleated cells (≤7×103/µL) in the sample. High and low cellularity in BM and high and low cellularity in PB samples showed no metaphases in 3.9, 39.7, 41.9, and 84.6% of cases, respectively. Collecting a good BM sample is the key for the success of karyotyping in MN and avoids the use of expensive molecular techniques.
Highlights
Cytogenetic study is essential for disease classification, prognostic assessment, and treatment [1]
This study aimed to assess the relationship between pre-analytical variables and failures associated with karyotyping in myeloid neoplasms (MN)
From the 421 samples sent to the laboratory, 340 (80.8%) samples belonged to patients with acute or chronic myeloid neoplasms with the following confirmed diagnoses: 1) 137 (32.5%) myeloproliferative neoplasms (MPN); 2) 113 (26.8%) acute myeloid leukemias (AML); 3) 73 (17.3%) myelodysplastic syndromes (MDS); and 4) 17 (4.0%) myelodysplastic/myeloproliferative neoplasms (MDS/MPN)
Summary
Cytogenetic study is essential for disease classification, prognostic assessment, and treatment [1]. Karyotyping (obtained from conventional cytogenetics) remains an essential test for myeloid malignancies. It allows a comprehensive structural analysis of the complete set of chromosomes, though only anomalies comprising more than 5 MB can be detected. Chromosomes in metaphase are indispensable for karyotyping, and for this purpose, aspirated bone marrow or peripheral blood cells are cultured in vitro. Some pre-analytical variables such as the time from collection to processing, the sample type (bone marrow or peripheral blood), the volume, the nucleated cell number, and other conditions intrinsic to the processing methods (culture, harvesting, and banding) must be met for successful analysis [4]
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