Detection of the Cytogenetic Aberrations in Multiple Myeloma by Using Microrray Comparative Genomic Hybridization / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To detect the molecular cytogenetic abnormalities of multiple myeloma (MM) by using microrray-based comparative genomic hybridization (array-CGH) technology and to investigate its value of application in MM.</p><p><b>METHODS</b>The whole-genoine copy number variants (CNV) of bone marrow samples acquired from 20 cases of newly diagnosed MM patients were detected by genome-wide hybridization and scanning by CytoScan 750K Array (Affymetrix). At the same time, the chromosome abnormalities of bone marrow cells were detected by karyotype analysis and FISH using 9 specific probes: D13S319, RB1, p53, 1q21, IgH, IgH/CCND1, IgH/FGFR3, IgH/MAF, IgH/MAFB.</p><p><b>RESULTS</b>Among the 20 MM patients, the incidence of chromosome abnormalities detected by karyotype analysis, FISH and array-CGH were 15%, 65% and 90%, respectively. The types of CNV detected by array-CGH included the gain (106), loss (156) or UPD (23). There were many different CNVs in every chromosomes except chromosome 5, 9, 18, 21 and Y. Comparison of chromosome abnormalities detected by FISH and array-CGH showed that, the positive ratio of del (13q) was 35% and 40% respectively; the positive ratio of amp (1q) was 40% and 50% respectively; the positive ratio of del (17p) was both 15%. FISH detection showed 8 cases with IgH rearrangement, meansahile the array-CGH detection showed that 4 cases had amp (11q13) (CCND1 gene), 3 cases had amp (16q23) (MAF gene), 1 case had amp (4p16) (FGFR3 gene) and 2 cases had amp (20q12) (MAFB gene). Besides, many other new chromosome abnormalities were found.</p><p><b>CONCLUSION</b>More than half of MM patients have cytogenetic changes, and most of them are complex chromosomal abnormalities. By using array-CGH, more chromosome abnormalities can be detected and more cytogenetic information can be provided for clinician.</p>

Detection of Molecular Cytogenetic Aberrations by Fluorescence in Situ Hybridization in Different Bone Marrow Samples of Multiple Myeloma / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To detect the molecular cytogenetic abnormalities in different bone marrow samples of multiple myeloma by using fluorescence in situ hybridization (FISH) technology. The bone marrow cells from 48 cases of MM were taken for sorting the plasma cells using CD138 magnetic beads, and the biopsy tissue from 10 cases of MM was taken and embedded in parafin, then the 2 kinds of samples were detected by using FISH. D13s319/RB1, 1q21/P53, IgH, IgH/FGFR3, IgH/MAF probes were detected in 58 patients with new diagnosed multiple myeloma (MM) by FISH technology.</p><p><b>RESULTS</b>Fluorescent signals were both seen in 2 different types of bone marrow samples and cytogenetic aberrations were detected in 30/58 (51.7%) patients, 29.3% (17 out of 58) cases had both D13S319 and RB1 deletion. The positive rates of P53 deletion, 1q21 amplification and IgH rearrangement were 12%, 27.6% and 20.7%, respectively. Only 7 cases (23.3%) had one cytogenetic abnormality, other 23 (76.7%) cases all had 2 to 5 kinds of different abnormalities.</p><p><b>CONCLUSION</b>More than half of MM patients have cytogenetic change, and most of them are complex chromosomal abnormality. The different kinds of samples can expand the useful extension of FISH technology and acquire more cytogenetic information for clinician.</p>

Detecting the abnormal expression of PDGFRA gene in eosinophilia by FISH / 中国实验血液学杂志

This study was aimed to investigate the abnormal expression of PDGFRA gene in eosinophilia by FISH. Translocations of PDGFRA gene in 13 patients with eosinophilia were detected by using 4q12 three-color probe and FISH technology. Fifteen people were used as control to establish the normal cut-off value of fluorescence signal of PDGFRA. The results indicated that 1 out of 13 patients with eosinophilia was corrected and was diagnosed as CML. The fusion gene of FIP1L1-PDGFRA (F/P) was found in 2 patients and the positive rate of F/P fusion gene detected by probe 4q12 was 17% in the 12 patients with eosinophilia. Other translocation forms involving PDGFRA gene were not found. It is concluded that a variety of translocation forms of PDGFRA gene can be detected in patients with eosinophilia by using 4q12 three-color probe and FISH technology, which can provide important information for assessing diagnosis and treatment.