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The Cytogenetic Abnormalities of Multiple Myeloma and Their Significance Detecting by Fluorescence in Situ Hybridization

Author: WangFengYun
Tutor: XiaRuiXiang
School: Anhui Medical University,
Course: Internal Medicine
Keywords: Multiple myeloma In situ fluorescence / hybrid Chromosomal abnormalities
CLC: R733.3
Type: Master's thesis
Year: 2010
Downloads: 32
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Abstract

The purpose of application of fluorescence in situ hybridization (FISH, flurorescence in situ hybridization) detection of multiple myeloma (MM, multiple myeloma) common cytogenetic abnormalities and to analyze its clinical significance. Method combines 1q21/RB1 D13S319/P53 IGH a group of DNA-specific probes and fluorescence in situ hybridization (FISH, flurorescence in situ hybridization) to detect chromosomal abnormalities in 33 patients with MM, at the same time and conventional cytogenetic detection methods ( R-banding) compare and analyze the clinical significance of the common chromosomal abnormalities. Results (1) R-banding were found in eight cases of abnormal karyotypes, the overall detection rate of 26.4%. Fluorescence in situ hybridization were detected in 69.6 (# / 33) of patients with cytogenetic abnormalities the the 1q21 amplification of the overall detection rate of 48.4%, the RB-1 deletion rate was 18.1%, a D13S319 deletion rate was 33.3%, IgH rearrangement detection rate of 27.2%, the P53 deletion rate was 15.1%. (2) R-banding and FISH techniques are two ways to del (13q14) detection rates were 6% and 33.3%, IgH rearrangement detection rates were 6% and 27.2%, respectively 1q21 amplification detection rate 3% and 48.4%, respectively. Detection rate were compared FISH can significantly improve the the chromosomal abnormalities detection rate of two groups of abnormal rate by χ2 test differences were statistically significant (P = 0.00, P = 0.02 and P = 0.00). (3) FISH detection found that the absence of RB-1 and D13S319 two sites closely related (P = 0.00), RB-1 gene deletion detected in 6 patients were accompanied by D13S319 locus deletion; RB-1, the D13S319 two bits point missing is closely related with the P53 gene deletion (P = 0.00), 5 cases of P53 gene deletion in three cases accompanied by RB-1, deletion of the D13S319 two sites; 2 cases with D13S319 gene deletion. 1q21 RB-1, D13S319, P53 gene deletion IgH gene rearrangement was no significant correlation between sex (P gt; 0.05). (4) 16 cases of 1q21 amplification in patients, 11 patients with stage Ⅲ Ⅱ period of five cases; including 9 patients with IgG type, 5 patients with IgA type the two cases are not secreted. The missing six cases of RB-1 in stage Ⅲ; including four cases of IgG type 1 patients with IgA type 1 cases not secreted. The 11 cases D13S319 missing patients, 9 patients with stage Ⅲ, two cases of stage Ⅱ; including 9 patients with IgG type 1 patients with IgA type, patients do not secrete type. 5 cases of P53 gene deletion patients, 4 patients with stage Ⅲ patients with stage Ⅱ; five cases are IgG type. Nine cases IgH gene rearrangement in patients, 7 patients with stage Ⅲ, two cases of stage Ⅱ; including five cases of IgG type, three cases of IgA type, patients do not secrete type. Take χ2 test the 5 abnormal karyotype typing, staging between no significant correlation ((P gt; 0.05) (5) del (13q14) patients β2-MG and the ratio of the number of bone marrow plasma cells are significantly higher in missing patients (P lt; 0.05) IgH gene rearrangement in the bone marrow of patients were significantly higher than the ratio of the number of plasma cells no rearrangement of the patients (P = 0.00), up to a statistically significant difference. conclusions of multiple myeloma cell genetic learn complex deformity, more than at the same time involving the structure and the number of abnormal RB-1 gene locus deletions and D13S319 missing two anomalies coexist, del (13q14) and 17p13 deletion has close ties. According to the study data concluded that: RB- 1, D13S319 and P53 gene deletion IgG type and mainly in stage Ⅲ. chromosome 13 deletions and IgH gene rearrangements in patients with β2-MG, and the ratio of the number of bone marrow plasma cells were significantly increased, suggesting the two abnormalities associated with poor prognosis. less formal treatment of patients in this study, no meaningful statistical tests cytogenetic changes and survival time. need to further expand the sample size to detect. routine need for the newly diagnosed and in the course of the disease in patients with MM chromosome, and FISH check, assess its prognosis of patients with abnormal karyotype and poor prognosis, especially del (13q14), and 17p13 missing patients.

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