Pre-analytical parameters associated with unsuccessful karyotyping in myeloid neoplasm: a study of 421 samples

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 (≤7×10 3 /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.

Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients

“…4 . These results are consistent with the study of Wang [ 16 ]. All those suggest that MLPA has the potential to alter the risk stratification in MDS patients with normal or cases without result after banding cytogenetics.…”

“…As we all know, chromosome banding analysis is very important for MDS. Unfortunately, a variety of issues hamper cytogenetic evaluation in cases because chromosome banding studies may be hindered by several factors, including low proliferative rate in tissue culture, insufficient number of metaphase cells, reduced cell viability or hypo cellularity upon arrival to the reference laboratory, poor chromosome morphology, or complexity of the karyotype[ 15 , 16 ]. So the outcomes of these patients were poorly understood.…”

Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients

“…The impact of cytogenetic aberrations detected by MLPA on OS of different IPSS-R patients were also showed in Fig.4. These results are consistent with the study of Wang [16]. All those suggest that MPLA has the potential to alter the risk strati cation in MDS patients with normal or cases without result after banding cytogenetics.…”

Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients

“…4. These results are consistent with the study of Wang [16]. All those suggest that MPLA result has the potential to alter the risk strati cation in MDS patients with normal or cases without result after banding cytogenetics.…”

“…As we all know, chromosome banding analysis is very important for MDS. Unfortunately, a variety of issues hamper cytogenetic evaluation in cases because chromosome banding studies may be hindered by several factors, including low proliferative rate in tissue culture, insu cient number of metaphase cells, reduced cell viability or hypocellularity upon arrival to the reference laboratory, poor chromosomeorphology or complexity of the karyotype [15,16]. So the outcomes of these patients were poorly understood.…”