Three-way Complex Variant Translocation Involving Long Arm of Chromosome 1 in a Chronic Myeloid Leukemia Patient

Clinical presentation of chronic myeloid leukemia (CML) with classic translocation is similar to those with variant translocations. However, the disease course, outcome and prognosis differsto a large extent. Therefore, it is important to identify and report variant cytogenetic findings. The case is being reported to improve awareness regarding such cases. Case Presentation: Herein we present a case study of 55-year-old male who presented with abdominal pain and fever. The initial complete blood count showed hyperleukocytosis with features suggestive of chronic myeloproliferative leukemia (CML). Bone marrow biopsy and cytogenetic studies were performed for confirmation. Cytogenetic analysis showed presence of complex, three-way (1;9;22)(q12;q34;q11.2) translocation involving chromosomes 1, 9 and 22. The Fluorescencein situhybridization (FISH) studies further confirmed BCR-ABL fusion gene and its atypical pattern was in concordance with aberrations observed in karyotype. The variant translocation we reported herein is unique and rarely reported in literature Discussion:We presented a complex variant case of three-way translocation with characteristic hematological and immunophenotypic findings of CML in chronic phase. To the best of our knowledge, only few cases have been documented so far involving such complex translocation. The initial response to cytoreduction was encouraging while imatinib response has to be followed in present case.Conclusion: It is important to highlight the variant translocations since such findings may influence the disease course hence play a significant role to predict outcome.

Influence of long non-coding RNA plasmacytoma variant translocation 1 in cell proliferation, invasion and glucose transporter 3 expression in glioma / 中华神经医学杂志

Objective:To study the influence of long non-coding RNA (LncRNA) plasmacytoma variant translocation 1 (PVT1) in glucose transporter 3 (GLUT3) expression, and cell proliferation and invasion in glioma.Methods:(1) The correlation between PVT1 and GLUT3 gene expressions and their influences in overall survival (OS) were analyzed using data from 222 cases of primary gliomas from Chinese Glioma Genome Atlas mRNAseq_325 data set. (2) Fifteen glioma specimens, including 8 from patients with low-grade glioma (LGG group) and 7 from patients with glioblastoma (GBM group), were collected in our hospital from January 2019 to December 2019; the PVT1 expression was detected by fluorescence in situ hybridization (FISH); the GLUT3 protein expression was detected by immunohistochemistry. (3) Normal human astrocyte (NHA) and glioblastoma cell lines U87, LN229 and U251 (NHA group, U87 group, ln229 group and U251 group) were cultured in vitro; real-time fluorescent quantitative PCR (RT-qPCR) was used to detect the PVT1 and GLUT3 mRNA expressions; Western blotting was used to detect the GLUT3 protein expression; U87 and LN229 cells were divided into PVT1 overexpression plasmid group and blank plasmid group, PVT1 short hairpin RNA (shRNA) group and negative control shRNA group; the GLUT3 mRNA and protein expressions were detected by RT-qPCR and Western blotting. (4) In U87 and LN229 cells of negative control shRNA group and PVT1 shRNA group, CCK-8 assay and colony formation assay were used to detect the cell proliferation and Transwell assay was used to detect the cell invasion. (5) Ten female BALB/c-nu nude mice were randomly divided into experimental group and control group ( n=5); the U87 cells from PVT1 shRNA group and negative control shRNA group were transplanted into the mice to establish subcutaneously transplanted tumor models. The animals were sacrificed and the tumors were weighed and measured 4 weeks after transplantation; the Ki-67 and GLUT3 protein expressions were detected by immunohistochemistry. Results:(1) The gene expressions of PVT1 and GLUT3 were positively correlated in the 222 cases of primary glioma from mRNAseq_325 data set ( r=0.514, P=0.000); the OS of patients in the PVT1 high-expression group or GLUT3 high-expression group was significantly shorter as compared with that in the PVT1 low-expression group or GLUT3 low-expression group, respectively ( P<0.05). (2) As compared with the low-grade glioma group, the glioblastoma group had significantly increased PVT1 and GLUT3 protein expressions ( P<0.05). (3) As compared with NHA cells, the U87, LN229 and U251 cells had significantly increased PVT1 and GLUT3 mRNA and protein expressions ( P<0.05). As compared with those in the blank plasmid group, the GLUT3 mRNA and protein expressions were significantly increased in the U87 and LN229 cells of PVT1 overexpression plasmid group ( P<0.05); as compared with those in the negative control shRNA group, the GLUT3 mRNA and protein expressions were significantly decreased in the U87 and Ln229 cells of PVT1 shRNA group ( P<0.05). (4) As compared with negative control shRNA group, PVT1 shRNA group had significantly reduced optical density value, significantly smaller numbers of clone formation and invasive cells in U87 and LN229 cells ( P<0.05). (5) As compared with those in the control group, the subcutaneous transplanted tumor volume was significantly smaller, the subcutaneous transplanted tumor mass and Ki-67 and GLUT3 protein expressions were significantly lower in the experimental group ( P<0.05). Conclusion:Down-regulation of PVT1 can decrease the GLUT3 expression, therefore, inhibit the proliferation and invasion of glioma cells.

The mechanism and clinical significance of long non-coding RNA plasmacytoma variant translocation gene 1 in regulating the differentiation, proliferation, invasion and metastasis of breast cancer cells through target genes / 中国医师进修杂志

Objective:To analyze the mechanism and significance of long non-coding RNA (LncRNA) plasmacytoma variant translocation gene 1 (PVT1) in regulating the proliferation, differentiation, invasion and metastasis of breast cancer cells through the target gene.Methods:From January 2018 to December 2019, the expression levels of LncRNA PVT1 and microRNA (miR)-1207-5p in breast cancer cell line MCF-7 and normal breast epithelial cell line MCF-10A were detected by real-time fluorescence quantitative polymerase chain reaction (qRT-PCR). The human breast cancer cell line MCF-7 was transfected with PVT1 overexpression vector plasmid, PVT1 silencing lentivirus plasmid and negative control plasmid, and the expression levels of PVT1 and miR-1207-5p after transfection were detected. The activities of proliferation differentiation, metastasis and invasion in transfected breast cancer cells were detected by CCK-8 method, cell scratch test and Transwell invasion experiment. The expression levels of signal transducer and activator of transcription 6 (STAT6) and P21 mRNA/protein after transfection miR-1207-5p were detected by qRT-PCR and Western blotting method.Results:The expression levels of PVT1 and miR-1207-5p in breast cancer cells were significantly higher than those in normal breast epithelial cells (1.271 ± 0.305 vs. 0.023 ± 0.006 and 1.679 ± 0.347 vs. 0.031 ± 0.009), and there were statistical differences ( P<0.01). The expression levels of PVT1 and miR-1207-5p in breast cancer cells after transfection PVT1 overexpression vector plasmid were significantly higher than those in breast cancer cells after transfection negative control plasmid and PVT1 silencing lentivirus plasmid (2.357 ± 0.271 vs. 1.000 ± 0.000 and 0.103 ± 0.021, 3.265±0.375 vs. 1.000 ± 0.000 and 0.265 ± 0.024), the indexes in breast cancer cells after transfection negative control plasmid were significantly higher than those in breast cancer cells after transfection PVT1 silencing lentivirus plasmid, and there were statistical differences ( P<0.05). The proliferation activity in breast cancer cells 48, 72, 96 and 168 h after transfected with PVT1 overexpression vector plasmid was significantly higher than that in breast cancer cells transfected with negative control plasmid and PVT1 silencing lentivirus plasmid, proliferation activity in breast cancer cells transfected with negative control plasmid was significantly higher than that in breast cancer cells transfected with PVT1 silencing lentivirus plasmid, and there were statistical differences ( P<0.05). The metastasis activity and invasion activity in breast cancer cells 24 h after transfected with PVT1 overexpression vector plasmid were significantly higher than those in breast cancer cells transfected with negative control plasmid and PVT1 silencing lentivirus plasmid, the metastasis activity in breast cancer cells transfected negative control plasmid was significantly higher than that in breast cancer cells transfected PVT1 silencing lentivirus plasmid, and there were statistical differences ( P<0.05). The STAT6 and P21 mRNA in transfection miR-1207-5p overexpression group were significantly lower than those in transfection mimic group (0.476 ± 0.102 vs. 1.000 ± 0.000 and 0.429 ± 0.097 vs. 1.132 ± 0.236), and there were statistical differences ( P<0.01); the STAT6 and P21 protein in miR-1207-5p overexpression group was significantly lower than that in mimic group (0.396 ± 0.104 vs. 1.062 ± 0.002 and 0.434 ± 0.067 vs. 1.141 ± 0.218), and there were statistical differences ( P<0.01). Conclusions:LncRNA PVT1 may be a regulated host gene of miR-1207-5p, which synergistically affects the proliferation, differentiation, invasion and metastasis of breast cancer cells through the regulation of target gene STAT6. Inhibiting the transcription of this gene may be a new research direction for breast cancer treatment.

The clinical application of plasmacytoma variant translocation gene 1 in the diagnosis of rheumatoid arthritis / 中华风湿病学杂志

Objective:To explore the clinical application and diagnosis of the long non-coding RNA plasmacytoma variant translocation gene 1 (PVT1) in plasma for rheumatoid arthritis (RA).Methods:One hundred and nineteen healthy individuals were designed as healthy control (HC), 158 patients with RA, 50 patients with systemic lupus erythematosus (SLE) and 50 patients with primary Sj?gren′s syndrome (pSS) were collected from Xuzhou Central Hospital. The plasma PVT1 of HC, RA, SLE and pSS patients and were determined by real time polymerase chain reaction (qRT-PCR). The t test of two independent-samples and One-Way analysis of variance (ANOVA) were used to compare the levels of plasma PVT1 in HC, RA, SLE and pSS patients. The correlation between PVT1 and RF, IL-6 and anti-CCP of RA patients were analyzed by Spearman's rank correlation test. Receiver operating characteristic (ROC) curves were used to identify the diagnostic performance of plasma PVT1 for RA. Results:Compared to HC [(1.32±1.22)], SLE [(1.15±0.83)] and pSS patients [(1.46±0.88)], the plasma PVT1 relative expression [(3.71±2.68)] were significantly increased in RA patients ( t=8.36, P<0.01; t=6.83, P<0.01; t=5.98, P<0.01). The PVT1 had a strong positive correlation with RF, IL-6 and anti-CCP( r=0.41, P<0.01; r=0.38, P<0.01; r=0.40, P<0.01). The area under curve (AUC) of plasma of PVT1 of RA was 0.79[95% CI(0.72, 0.85); P<0.01]. At the optimal cut-off of 1.97, the diagnostic sensitivity and specificity were 68.27% and 86.45%, and in this point provided better diagnostic accuracy. When combination PVT1 with RF, the AUC was 0.88[95% CI(0.83, 0.93); P<0.01], the sensitivity and specificity were 80.22% and 82.73%. Conclusion:Plasma PVT1 has potential diagnostic value for RA, which may become a new biomarker for the diagnosis for RA patients.

Expression of cyclic RNA plasmacytoma variant translocation 1 in senescence of nucleus pulposus cells and its regulation mechanism / 中国组织工程研究

BACKGROUND: Cyclic RNA plasmacytoma variant translocation 1 (circPVT1) is involved in the senescence of fibroblasts, but the relationship of circPVT1 with nucleus pulposus senescence and its mechanism are still unclear. OBJECTIVE: To investigate the expression of circPVT1 in nucleus pulposus cell senescence and to explore its possible mechanism. METHODS: Human nucleus pulposus cells were cultured in vitro, and the senescence of nucleus pulposus cells was induced by ionizing radiation (5 Gy, 6 days). The expression of circPVT1 and let-7 mRNA was detected by real-time quantitative polymerase chain reaction (qRT-PCR). CircPVT1 siRNA and anti-let-7 were transfected into normal nucleus pulposus cells, which were divided into control group, si-NC+anti-NC group, si-circPVT1+anti-NC group, si-NC+anti-let-7 group, and si-circPVT1+anti-let-7 group. The expressions of circPVT1 and let-7 mRNA were detected by qRT-PCR. Cell counting kit-8 assay was used to detect the inhibition of cell proliferation. Plate cell clone formation assay was used to detect colony formation. Cell senescence was detected by SA-β-gal staining. The expressions of p21, p27, let-7 target high mobility group protein A2 (HMGA2) and KRAS were detected by western blot assay. Double luciferase activity assay was used to verify the relationship between let-7 and target regulation of HMGA2 and KRAS. RESULTS AND CONCLUSION: (1) Compared with normal nucleus pulposus cells, the expression of circPVT1 was decreased, while let-7 expression and the positive rate of SA-β-gal staining were increased in the irradiated cells (P < 0.05). (2) Compared with the control group and si-NC+anti-NC group, the si-circPVT1+anti-NC group appeared to have decreased expression of circPVT1 mRNA, HMGA2 and KRAS proteins and number of clones formed as well as increased let-7 mRNA expression, p21, p27 protein expression, cell inhibition rate and positive rate of SA-β-gal staining (P < 0.05). However, opposite changes were found in the si-NC+anti-let-7 group in relative to the control group (P < 0.05). (3) The expression of circPVT1 mRNA, clone formation, and expressions of HMGA2 and KRAS proteins in the si-circPVT1+anti-let-7 group were higher than those in the si-circPVT1+anti-NC group, and lower than those in the si-NC+anti-let-7 group. Let-7 mRNA expression, cell inhibition rate, positive rate of SA-β-gal staining, and expressions of p21 and p27 proteins in the si-circPVT1+anti-let-7 group were lower than those in the si-circPVT1+anti-NC group, and higher than those in the si-NC+anti-let-7 group (P < 0.05). Double luciferase activity assay showed that HMGA2 and KRAS were the targets of let-7. These findings indicate that inhibition of circPVT1 can inhibit the aging of nucleus pulposus cells. The mechanism may be through binding let-7 to inhibit the targeting of HMGA2 and KRAS proteins.

Effects of Long Non-coding RNA Plasmacytoma Variant Translocation 1 Gene on Inflammatory Response and Cell Migration in Infected Gastric Epithelial Cell Line / 中国医学科学院学报

To investigate the mechanism of long non-coding RNA plasmacytoma variant translocation 1 (PVT1) in gastric cancer caused by (HP) infection. The expression of PVT1 was detected by quantitative real-time polymerase chain reaction in HP-infected normal gastric epithelial cells GES-1. Gastric cancer cell line SGC-7901 was transfected with PVT1 small interfering RNA and co-cultured with HP,and then the inflammatory cytokines such as tumor necrosis factor-α (TNF-α),interleukin (IL) -1β,IL-6 and IL-8 were detected. After PVT1 was knocked down,the effects of PVT1 on the proliferation and migration of gastric cancer cells were examined by cell scratch assay. RNA-pulldown combined with mass spectrometry was used to detect the protein binding to PVT1,and the result of mass spectrometry was verified by RNA-pulldown combined with Western blot. In HP-infected normal gastric epithelial cells GES-1,quantitative real-time polymerase chain reaction showed that PVT1 was significantly up-regulated (=7.160,=0.019). PVT1 was knocked down in gastric cancer cells,and then infected with HP. The expressions of inflammatory factors including TNF-α (=3.899,=0.011),IL-1β (=14.610,=0.000),and IL-8 (=6.557,=0.001) were significantly inhibited. Although PVT1 knockdown had no significant effect on the proliferation ability of gastric cancer cells,it inhibited the migration of cells. PVT1 might interact with RPS8 protein. PVT1 may act as a pro-inflammatory factor and regulate gastric cancer caused by HP infection.

Expression of lncRNA PVT1 in colorectal cancer tissues and cells and its effect on chemo-sensitivity to cisplatin and the possible mechanisms / 中国肿瘤生物治疗杂志

@#Objective: To study the regulatory effects and possible mechanism of long non-coding RNA plasmacytoma variant translocation 1 (lncRNA PVT1) on chemotherapy sensitivity to cisplatin (DDP) of colorectal cancer (CRC)．Methods: A total of 112 pairs of matched cancer and adjacent non-cancerous tissues were obtained from the CRC patients who underwent surgical resection in the First Affiliated Hospital of Xinxiang Medical University betweenApril 2006 and March 2011.All specimens were confirmed by pathological examinations. Tumor tissues and corresponding adjacent non-cancerous tissues from 30 cisplatin-sensitive CRC patients and 30 cisplatin-resistant patients were selected. Human CRC cell lines (HT29, SW480, HCT116, RKO and LoVo) and normal colonic epithelial cell line NCM460 were also collected for this study; and DDP-resistant RKO/DDP and LoVo/DDP cell lines were constructed. siPVT1, siNC, LV-PVT1 and LV-NC were transfected into LoVo and RKO cells or LoVo/DDP and RKO/DDP cells using lipofectamineTM2000. The expression of lncRNA PVT1 in CRC tissues and cells was tested by Real-time qPCR. CCK-8 assay, flow cytometry and WB were performed to test the effect of PTV1 knockout or enforcement on cell proliferation, apoptosis and expressions of apoptosis-related proteins, respectively. The CRC subcutaneous transplanted xenograft model was established on athymic nude mice to study the effect of PVT1 over-expression on tumor growth and DDP resistance. Results: PVT1 was highly expressed in the cancer tissues and CRC cells, and its expression was positively associated with cisplatin resistance of CRC. After knockdown of PVT1, the proliferation of cisplatinresistant CRC cells was significantly suppressed, while the apoptosis was significantly enhanced (P<0.05 or P<0.01); Mechanically, the levels of drug resistance-associated molecules, including MDR1 and MRP1, as well as the expression of anti-apoptotic Bcl-2 were significantly downregulated whereas the levels of pro-apoptotic Bax and cleaved caspase-3 were increased in PVT1-silenced DDP-resistant CRC cells. Over-expression of PVT1 reversely increased proliferation and decreased apoptosis of CRC cells (P<0.05 or P<0.01). In addition, PVT1 over-expression in CRC cells significantly promoted DDP-resistance in vivo (P<0.05). Conclusion: Collectively, knockdown of PVT1 expression can significantly suppress cell proliferation and promote apoptosis of DDP-resistant CRC cells. Overexpression of PVT1 can significantly promote the growth of CRC cells in vitro and transplanted xenograft in vivo. PVT1 regulates endogenous apoptosis pathways and further promotes the sensitivity of CRC cells to cisplatin chemotherapy via inhibiting the expressions of MDR1 and MRP1.

The molecular-cytogenetic characterization and tyrosine kinase inhibitors efficacy in newly diagnosed chronic phase CML patients with variant Philadelphia chromosomes / 中华血液学杂志

Objective@#To investigate the molecular-cytogenetic characterization and impact on tyrosine kinase inhibitors (TKIs) therapy in chronic phase of chronic myeloid leukemia (CML-CP) patients with variant Ph chromosome (vPh).@*Methods@#The clinical data of 32 patients with vPh chromosomes were collected and compared with 703 patients with typical Ph chromosome in newly diagnosed CML-CP who were on first-line imatinib (IM) and with BCR-ABL transcript of P210.@*Results@#There was no significant difference in demographic and hematological characteristics between vPh and classic Ph patients. 3(9.4%) of the 32 vPh cases were simple variant translocations. Among the remaining 29 cases with complex variant translocations, 28 cases (87.5%) involved 3 chromosomes, and only 1 (3.1%) involved 4 chromosomes. Except for 8, 15, 18, X, and Y chromosomes, the other chromosomes were involved. The frequency of chromosome 12q(15.5%) and 1p (12.1%) were higher involved. The most common FISH signal pattern was 2G2R1Y (74.1%), followed by 1G1R2F (14.8%), 2G1R1Y (3.7%), 1G2R1Y (3.7%), 1G1R1Y (3.7%). The comparison of complete cytogenetic response (CCyR) (P=0.269), major molecular response (MMR) (P=0.391) were carried out between simple and complex mechanisms, without difference. Compared with the classic Ph, the patients with vPh had higher IM primary resistance rate (χ2=3.978, P=0.046), especially primary hematological resistance (χ2=7.870, P=0.005), but the difference of CCyR (χ2=0.192, P=0.661), MMR (χ2=0.822, P=0.365), EFS (χ2=0.509, P=0.476), OS (χ2=3.485, P=0.062) were not statistically significant, and multivariate analysis showed that the presence of vPh did not affect OS (RR=0.692, 95%CI 0.393-1.765, P=0.658)、EFS (RR=0.893, 95%CI 0.347-2.132, P=0.126) and PFS (RR=1.176, 95%CI 0.643-2.682, P=0.703).@*Conclusion@#CML-CP patients with vPh and classic Ph had similar demographic and hematological characteristics. Except for 22q11, 9q34, the frequency of chromosome 12q and 1p were higher involved. The most common FISH signal pattern was 2G2R1Y, and different mechanisms had no impact on TKIs therapy. Compared with cases with classic Ph chromosomes, the patients with vPh chromosomes had higher risk of IM primary resistance, especially primary hematological resistance, which can obtain deeper molecular response quickly after changing to second-generation TKIs and didn’t affect long-term outcomes and OS.

The molecular-cytogenetic characterization and tyrosine kinase inhibitors efficacy in newly diagnosed chronic phase CML patients with variant Philadelphia chromosomes / 中华血液学杂志

Objective: To investigate the molecular-cytogenetic characterization and impact on tyrosine kinase inhibitors (TKIs) therapy in chronic phase of chronic myeloid leukemia (CML-CP) patients with variant Ph chromosome (vPh). Methods: The clinical data of 32 patients with vPh chromosomes were collected and compared with 703 patients with typical Ph chromosome in newly diagnosed CML-CP who were on first-line imatinib (IM) and with BCR-ABL transcript of P210. Results: There was no significant difference in demographic and hematological characteristics between vPh and classic Ph patients. 3(9.4%) of the 32 vPh cases were simple variant translocations. Among the remaining 29 cases with complex variant translocations, 28 cases (87.5%) involved 3 chromosomes, and only 1 (3.1%) involved 4 chromosomes. Except for 8, 15, 18, X, and Y chromosomes, the other chromosomes were involved. The frequency of chromosome 12q(15.5%) and 1p (12.1%) were higher involved. The most common FISH signal pattern was 2G2R1Y (74.1%), followed by 1G1R2F (14.8%), 2G1R1Y (3.7%), 1G2R1Y (3.7%), 1G1R1Y (3.7%). The comparison of complete cytogenetic response (CCyR) (P=0.269), major molecular response (MMR) (P=0.391) were carried out between simple and complex mechanisms, without difference. Compared with the classic Ph, the patients with vPh had higher IM primary resistance rate (χ2=3.978, P=0.046), especially primary hematological resistance (χ2=7.870, P=0.005), but the difference of CCyR (χ2=0.192, P=0.661), MMR (χ2=0.822, P=0.365), EFS (χ2=0.509, P=0.476), OS (χ2=3.485, P=0.062) were not statistically significant, and multivariate analysis showed that the presence of vPh did not affect OS (RR=0.692, 95%CI 0.393-1.765, P=0.658)、EFS (RR=0.893, 95%CI 0.347-2.132, P=0.126) and PFS (RR=1.176, 95%CI 0.643-2.682, P=0.703). Conclusion: CML-CP patients with vPh and classic Ph had similar demographic and hematological characteristics. Except for 22q11, 9q34, the frequency of chromosome 12q and 1p were higher involved. The most common FISH signal pattern was 2G2R1Y, and different mechanisms had no impact on TKIs therapy. Compared with cases with classic Ph chromosomes, the patients with vPh chromosomes had higher risk of IM primary resistance, especially primary hematological resistance, which can obtain deeper molecular response quickly after changing to second-generation TKIs and didn't affect long-term outcomes and OS.

Expression of plasma-cytoma variant translocation gene 1 in ovarian cancer and its malignant biologic behavior / 中国肿瘤生物治疗杂志

@#[Abstract] Objective: To investigate the effects of plasma-cytoma variant translocation gene 1 (PVT1) on proliferation, migration and invasion of ovarian cancer SKOV3 cells. Methods: Quantitative reverse transcription PCR (qRT-PCR) was used to detect the expression of PVT1 in 32 pairs of ovarian cancer tissues and corresponding para-carcinoma tissues. The effects of PVT1 on proliferation, migration and invasion of ovarian cancer cells were studied by CCK-8, scratch wound healing assay and Transwell assay. Results: The expression level of PVT1 in SKOV3 cells and ovarian cancer tissues was significantly increased (all P<0.01). The expression level of PVT1 was correlated with histological grade, FIGO stage and lymph node metastasis in patients with ovarian cancer (P<0.05 or P< 0.01).After transfection with PVT1 siRNAfor 36, 48 h, expression of PVT1 was significantly decreased in SKOV3 cells; and the inhibition of PVT1 expression could decrease the proliferation ability and inhibit the migration and invasion of SKOV3 cells (P<0.05 or 0.01). Conclusion: LncRNA PVT1 was highly expressed in ovarian cancer. Down-regulation of PVT1 could inhibit the proliferation, migration and invasion of ovarian cancer SKOV3 cells.

The correlation of plasmacytomas variant translocation gene polymorphisms and diabetes nephropathy / 国际检验医学杂志

Objective To research the correlation of single nucleotide polymorphisms(SNPs) of Plasmacytomas Variant Translocation Gene(PVT1) and diabetes nephropathy.Methods To assay PVT1 SNPs (rs10808565,rs13447075,rs2648862,rs2720709,rs2648875) in two groups individuals with diabetes nephropathy and diabetes by MassARRAY system.Then analysis the results by statistical methods to evaluate the relationship between PVT1 SNPs and diabetes nephropathy.Results The distributions of SNPs of PVT1 (rs10808565,rs13447075,rs2648862,rs2720709,rs2648875) were all under the Hard-Weinberg equilibrium in two groups.Difference in PVT1 rs2648875 between two groups was statistically significant(P<0.05);and there were no significant differences in the others SNPs (rs10808565,rs13447075,rs2648862,rs2720709) between two groups.Conclusion PVT1 rs2648875 may contribute to the susceptibility of DN in chinese people and the others PVT1 SNPs (rs10808565,rs13447075,rs2648862,rs2720709) may not be Chinese susceptibility gene in DN.

Plasmacytoma variant translocation 1 in cancer / 国际肿瘤学杂志

Plasmacytoma variant translocation1 (PVT1) is a very important long nocoding RNA,which located at chromosome 8q24.21 in human beings.Aberrant expression and polymorphism of PVT1 was closely associated with various kinds of cancers such as malignant lymphoma,breast cancer,colorectal cancer,pancreatic cancer,and affected survival and prognosis of cancer patients.This mainly attribute to its interactin with myc,miRNAs and other proteins,and also gene polymorphism.Further study of PVT1 is expected to provide a new target for the diagnosis and treatment of cancer.

Analysis of chromosome karyotype characteristics in patients with chronic myeloid leukemia / 白血病·淋巴瘤

Objective To explore the characteristics of chromosome karyotypes in patients with chronic myeloid leukemia (CML),and to provide help to individualized treatment.Methods The date of chromosome karyotypes of 313 patients and FISH of 45 of these patients with CML excluding Ph chromosome negative (Ph-) after treatment were collected from January 2014 to June 2015.Karyotypes were detected by R-banding.Results In the 313 cases,307 cases (98.08 ％) were Ph chromosome positive (Ph+) and 6 cases (1.92 ％) were Ph-.In the Ph+ patients,288 cases (93.81％) were classical Ph+,and 19 cases (6.19 ％) were variant rearrangements.There were 48 cases (15.34 ％) with additional chromosome changes in all patients,including 41 cases (13.10 ％) with classical Ph+ and 7 cases (2.24 ％) with variant rearrangements.The most common additional chromosome changes were in the following order:+der(22) Ph (35.42 ％),+8 (33.33 ％) and +21 (12.50 ％).The most frequent pattern of combination was +der(22) combined with +8 (16.67 ％),followed by +8 combined with +21 (10.42 ％).The proportion of pure Ph+ patients in chronic phase was higher than that of advanced phase,but proportion of classical Ph+ patients with additional chromosome changes in chronic phase was lower than that in advanced phase (x2 =1 11.55,P ＜ 0.01).The proportions of chronic phase and advanced phase patients with simple variant rearrangements were not different from those with complex variant rearrangements (P =0.582).The results of FISH in 45 cases were all positive,including 5 cases with 2 GIR1Y.Conclusion Karyotype analysis can reveal the instability of genetic and the characteristics of disease progression by identifying the evolution of Ph,which provides the basis for clinical doctors to choose suitable treatment.

Two Concurrent Chromosomal Aberrations Involving Three-way t(3;21;8)(p21;q22;q22) and Two-way t(2;11)(q31;p15) Translocations in a Case of de novo Acute Myeloid Leukemia

One of the most frequent structural chromosomal anomaly is t(8;21)(q22;q22) that occurs in approximately 5-15% of all acute myeloid leukemia (AML). However, t(3;21)(p21;q22) and t(2;11)(q31;p15) translocations are rarely reported in AML. Here, we report a unique case of AML with two translocations, t(3;21;8)(p21;q22;q22) and t(2;11)(q31;p15). Using multiplex reverse transcription polymerase chain reaction, we identified a RUNX1-RUNX1T1 fusion gene. Following a second relapse, the patient did not respond to therapy and died 55 months following the first diagnosis. We believe that this is the first case describing concurrent chromosomal aberrations involving three-way t(3;21;8) and two-way t(2;11) translocations in de novo acute myeloid leukemia.