The utility of hematopoietic stem cell karyotyping in the diagnosis of de novo myelodysplastic syndromes

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• 作者：Manoj S. Bandara ; Hemali W. W. Goonasekera…
• 关键词：Cytogenetic abnormality ; Myelodysplastic syndromes ; Hematopoietic stem cells ; Bone marrow ; FISH
• 刊名：Journal of Hematopathology
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：9
• 期：3
• 页码：121-128
• 全文大小：305 KB
• 刊物主题：Pathology; Hematology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1865-5785
• 卷排序：9

文摘

Myelodysplastic syndromes (MDS) are a clonal hematopoietic stem cell (HSC) disorders. Cytogenetics plays a vital role in pathogenesis, diagnosis, prognosis, and determining treatments in MDS. Cytogenetic studies on CD 34+ cells in Asian MDS patients are limited. The aim of conducting this study was to compare the karyotypic features of CD 34+ cells and their bone marrow (BM) karyotypes. BM samples of 20 primary MDS patients were collected. BM-CD 34+ cells were isolated by CD34 positive selection. Conventional karyotyping was performed on primary BM samples and isolated CD 34+ cells. Fluorescence in situ hybridization (FISH) was performed to confirm del(5q) by using XL 5q31/5q33 locus-specific probe. Chromosomal abnormalities were detected in 41 % (7/17) of BM and 40 % (8/20) of HSC karyotypes. BM and HSC karyotypes were similar (94 %) except in one (BM—normal; CD 34+ cells had del(5q)) where the patient showed characteristic del(5q) phenotype. The abnormalities found were del(5q)—10 % (2/20), del(11q)—5 % (1/20), del(12p)—5 % (1/20), 47,XY,+19—5 % (1/20), hypodiploidy—5 % (1/20), and random loss of chromosomes—10 % (2/20). The percentage of abnormal metaphases counted per case was higher for CD 34+ cell cultures than for BM cultures. Culture failure were less for CD 34+ cells when compared to BM. Sample limitation for BM does not apply for CD 34+ cells if cultures can be maintained. Although the abnormal karyotypes counted were greater using CD 34+ cells than BM, there was no statistically significant difference (p > 0.05). Detection of karyotypic abnormalities could be greater when using CD 34+ cells. All the karyotypic abnormalities reported in this study had been previously known in MDS. Further large scale studies are needed to verify our findings.