Objective:To explore the value of multi-gene copy number variation (CNV) analysis in the clinical prognostic prediction of patients with multiple myeloma (MM).Methods:A retrospective case series study was conducted. The clinical data of 79 MM patients who were admitted to the Affiliated Cancer Hospital of Zhengzhou University from June 2016 to March 2023 were collected. The whole-genome CNV status was obtained by using whole-genome low depth sequencing (sWGS) of bone marrow blood cells. The outcomes of remission, minimal residual disease (MRD) turning negative, progression-free survival (PFS) and overall survival (OS) in patients with and without CNV were compared. The Cox proportional hazards model was used to analyze the influencing factors of PFS and OS.Results:Among the 79 patients with MM, 43 were males and 36 were females. The median age [ M ( Q1, Q3)] was 65 years old (55 years old, 71 years old). In the revised international staging system, there were 20, 51 and 8 cases in stage Ⅰ, Ⅱ and Ⅲ, respectively. The results of fluorescence in situ hybridization (FISH) were abnormal in 17 cases. CNV was detected in 55 patients (69.6%), and the abnormality of chromosome 1q (27 cases, 49.1%) was the most frequently detected, followed by the abnormality of chromosome 13 (26 cases, 47.3%), chromosome 6 (22 cases, 40.0%), chromosome 11 (19 cases, 34.5%), chromosome 8 (18 cases, 32.7%), chromosome 14 (14 cases, 25.5%), and chromosome 17 (11 cases, 20.0%). The ≥ very good partial remission rate in the detected CNV group was lower than that in the undetected CNV group [29.1% (16/55) vs. 45.8% (11/24)], but the difference was not statistically significant ( χ2 = 2.08, P = 0.149). The MRD negative conversion rate of detected CNV group was lower than that of undetected CNV group [21.8% (12/55) vs. 58.3% (14/24)], and the difference was statistically significant ( χ2 = 10.09, P = 0.001). Survival analysis showed that PFS in the detected CNV group was worse than in the undetected CNV group [median PFS time: 36.7 months (95% CI: 6.1-67.4 months) vs. not reached], and the difference between the two groups was statistically significant ( χ2 = 6.61, P = 0.010), while the difference in OS between the two groups was not statistically significant ( χ2 = 1.84, P = 0.175). There was no significant difference in PFS and OS between patients with 1 and ≥2 abnormal copy sequences (both P > 0.05). PFS of patients with CNV on chromosomes 1q, 17, 8, 11 and 13 was worse than that of patients without CNV at these sites (all P < 0.05), while there was no statistical difference in OS (all P > 0.05). Results of univariate analysis showed that lactate dehydrogenase (LDH) level was correlated with PFS and OS of patients (both P < 0.05), and CNV was correlated with PFS of patients (P = 0.010). Results of multivariate analysis showed that LDH > 250 U/L was an independent factor for poor PFS and OS of patients ( HR = 0.135, 95% CI: 0.019-0.983, P = 0.048; HR = 0.132, 95% CI: 0.018-0.951, P = 0.045). Conclusions:Multi-gene CNV analysis can assist in predicting the prognosis of MM patients, and it is more sensitive than traditional CNV detection methods such as FISH. Patients with CNV on chromosomes 1q, 17, 8, 11, and 13 have poor prognosis.

Objective:To explore the value of multi-gene copy number variation (CNV) analysis in the clinical prognostic prediction of patients with multiple myeloma (MM).Methods:A retrospective case series study was conducted. The clinical data of 79 MM patients who were admitted to the Affiliated Cancer Hospital of Zhengzhou University from June 2016 to March 2023 were collected. The whole-genome CNV status was obtained by using whole-genome low depth sequencing (sWGS) of bone marrow blood cells. The outcomes of remission, minimal residual disease (MRD) turning negative, progression-free survival (PFS) and overall survival (OS) in patients with and without CNV were compared. The Cox proportional hazards model was used to analyze the influencing factors of PFS and OS.Results:Among the 79 patients with MM, 43 were males and 36 were females. The median age [ M ( Q1, Q3)] was 65 years old (55 years old, 71 years old). In the revised international staging system, there were 20, 51 and 8 cases in stage Ⅰ, Ⅱ and Ⅲ, respectively. The results of fluorescence in situ hybridization (FISH) were abnormal in 17 cases. CNV was detected in 55 patients (69.6%), and the abnormality of chromosome 1q (27 cases, 49.1%) was the most frequently detected, followed by the abnormality of chromosome 13 (26 cases, 47.3%), chromosome 6 (22 cases, 40.0%), chromosome 11 (19 cases, 34.5%), chromosome 8 (18 cases, 32.7%), chromosome 14 (14 cases, 25.5%), and chromosome 17 (11 cases, 20.0%). The ≥ very good partial remission rate in the detected CNV group was lower than that in the undetected CNV group [29.1% (16/55) vs. 45.8% (11/24)], but the difference was not statistically significant ( χ2 = 2.08, P = 0.149). The MRD negative conversion rate of detected CNV group was lower than that of undetected CNV group [21.8% (12/55) vs. 58.3% (14/24)], and the difference was statistically significant ( χ2 = 10.09, P = 0.001). Survival analysis showed that PFS in the detected CNV group was worse than in the undetected CNV group [median PFS time: 36.7 months (95% CI: 6.1-67.4 months) vs. not reached], and the difference between the two groups was statistically significant ( χ2 = 6.61, P = 0.010), while the difference in OS between the two groups was not statistically significant ( χ2 = 1.84, P = 0.175). There was no significant difference in PFS and OS between patients with 1 and ≥2 abnormal copy sequences (both P > 0.05). PFS of patients with CNV on chromosomes 1q, 17, 8, 11 and 13 was worse than that of patients without CNV at these sites (all P < 0.05), while there was no statistical difference in OS (all P > 0.05). Results of univariate analysis showed that lactate dehydrogenase (LDH) level was correlated with PFS and OS of patients (both P < 0.05), and CNV was correlated with PFS of patients (P = 0.010). Results of multivariate analysis showed that LDH > 250 U/L was an independent factor for poor PFS and OS of patients ( HR = 0.135, 95% CI: 0.019-0.983, P = 0.048; HR = 0.132, 95% CI: 0.018-0.951, P = 0.045). Conclusions:Multi-gene CNV analysis can assist in predicting the prognosis of MM patients, and it is more sensitive than traditional CNV detection methods such as FISH. Patients with CNV on chromosomes 1q, 17, 8, 11, and 13 have poor prognosis.

Objective To analyze non -small cell lung cancer patients with platinum -based chemotherapy excision repair cross -complementing 1 (ERCC1)and breast cancer susceptibility gene 1 (BRCA1 )gene polymor-phism,to examine the correlation of ERCC1 and BRCA1 gene polymorphism and non -small cell lung cancer platinum chemotherapy drugs sensitivity and chemotherapy prognosis.Methods 140 cases of non -small cell lung cancer were selected as subjects of this study.All patients were given platnum -based chemotherapy,peripheral blood ERCC1 and BRCA1 genes polymorphism were determined.The distribution of ERCC1 Asn118Asn genotype and BRCA1 Ser1613Gly genotype was observed.The relationship between different genotypes and the effect of chemotherapy and survival time after chemotherapy was compared.Results The proportions of ERCC1 Asn118Asn TT genotype,CT genotype and CC genotype were 5.7%,30.7% and 63.6%.The proportions of BRCA1 Ser1613Gly GG genotype,AG genotype and AA genotype were 8.6%,52.9% and 38.6%.In 140 patients,completely cured,partial response,stable disease and progressive disease patients were 0 case,33 cases,61 cases and 46 cases,the proportions were 0.0%, 23.6%,43.6% and 32.9%,the chemotherapy effective rate was 33.8%.ERCC1 Asn118Asn genotype was signifi-cantly correlated with the effect of non -small cell lung cancer chemotherapy (χ2 =4.416,P <0.05 ).BRCA1 Ser1613Gly genotype was significantly correlated with the effect of non -small cell lung cancer chemotherapy (χ2 =13.256,P <0.05).By Cox regression analysis and Log -rank test analysis,the average survival time of BRCA1 Ser1613Gly gene CC genotype non -small cell lung cancer after chemotherapy was longer than the CT +TT genotype (OR =2.946,χ2 =5.136,P <0.05).The average survival time of BRCA1 Ser1613Gly gene AA genotype non -small cell lung cancer after chemotherapy was shorter than the AG +GG genotype (OR =3.124,χ2 =5.136,P <0.05).Conclusion ERCC1 Asn118Asn genotype and BRCA1 Ser1613Gly genotype was significantly correlated with non -small cell lung cancer platinum -based chemosensitivity and chemotherapy prognosis.