Array Comparative Genomic Hybridization of Peripheral Blood Granulocytes of Patients With Myelodysplastic Syndrome Detects Karyotypic Abnormalities

作者：Vercauteren Suzanne M; Sung Sandy; Starczynowski Daniel T; Lam Wan L; Bruyere Helene; Horsman Douglas E; Tsang Peter; Leitch Heather; Karsan Aly^*

来源：American Journal of Clinical Pathology, 2010, 134(1): 119-126.

DOI：10.1309/AJCPH27ZIZEJLORF

• Myelodysplastic syndrome
• Array comparative genomic hybridization
• Neutrophils

The diagnosis of myelodysplastic syndromes (MDSs) relies largely on morphologic and karyotypic abnormalities, present in about 50% of patients with MDS. Array-based genomic platforms have identified copy number alterations in 50% to 70% of bone marrow samples of patients with MDS with a normal karyotype, suggesting a diagnostic role for these platforms. We investigated whether blood granulocytes harbor the same copy number alterations as the marrow of affected patients. Of 11 patients, 4 had cytogenetic abnormalities shown by conventional karyotyping involving chromosomes 5, 8, 11, 20, and X and these changes were seen in the granulocytes of all 4 patients by using array comparative genomic hybridization (aCGH). Cryptic alterations were identified at a significantly higher level in marrow CD34+ cells compared with granulocytes (P < .0001). These data suggest that aCGH analysis of circulating granulocytes may be useful in detecting gross katyotypic alterations in patients with MDS when marrow examination has failed or not been done.

• 出版日期2010-7