Biomedical subjects

Shuang Qin

Publications and source records attributed to Shuang Qin.

11 recordsLinked to original sources

PubMed2026

Integrated multi-omics analysis and functional experiments reveals PPAP2C as a potential prognostic biomarker and therapeutic target in breast cancer.

BACKGROUND: This study aims to systematically elucidate the clinical significance and biological function of the phospholipid phosphatase (PLPP) family member (PPAP2C) phosphatidic acid phosphatase type 2C in breast cancer, and to evaluate its potential as a prognostic biomarker and therapeutic target. METHODS: Gene expression data from The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression (GTEx), and Cancer Cell Line Encyclopedia (CCLE) databases were integrated to characterize the expression profile of PLPP family members, focusing on PPAP2C in breast cancer. The prognostic value of PPAP2C, initially identified at the mRNA level (TCGA, (METABRIC) Molecular Taxonomy of Breast Cancer International Consortium, Gene Expression Omnibus (GEO)), was confirmed at the protein level by immunohistochemistry (IHC) on tissue microarrays (TMA). The oncogenic functions of PPAP2C were investigated in triple-negative breast cancer (TNBC) cells through CRISPR-Cas9-mediated knockout and ectopic overexpression, with assessment of key phenotypes including proliferation, colony formation, migration, and invasion. In vivo validation was subsequently performed using an MDA-MB-231 xenograft model. RESULTS: PPAP2C exhibits the most significant overexpression pattern across 33 cancer types (upregulated in 16 cancers, downregulated in only 3). Compared with normal tissues, PPAP2C showed specific overexpression in breast cancer tissues and was significantly associated with advanced clinical stages and aggressive subtypes (HER2+ and TNBC). Survival analysis demonstrated that high PPAP2C expression correlated with significantly shorter overall survival and disease-free survival, which was further validated in METABRIC and GEO cohorts. Tissue microarray analysis confirmed higher PPAP2C protein positivity in tumor tissues (94.7%) than in adjacent normal tissues (59.7%), with worse OS and RFS in high-expression groups. Multivariate analysis identified PPAP2C as an independent prognostic factor for OS. Functional experiments revealed that PPAP2C knockout (via 5-bp/1-bp frameshift mutations) suppressed TNBC cell proliferation, colony formation, migration, and invasion, while overexpression enhanced these phenotypes. In vivo studies further demonstrated complete tumor regression in MDA-MB-231 xenografts upon PPAP2C knockout. CONCLUSION: This study identifies PPAP2C as a key oncogenic driver and a robust independent prognostic biomarker in breast cancer. The findings provide compelling evidence that PPAP2C represents a promising therapeutic target, offering a new strategic avenue for precision therapy, particularly for aggressive breast cancer subtypes.

PLPP2↗

PubMed2006

[Application of dual-color fluorescence in situ hybridization in acute myeloid leukemia with t (8; 21)].

OBJECTIVE: To investigate the utilities of dual-color fluorescence in situ hybridization (FISH) in diagnosis and monitor of treatment in acute myeloid leukemia (AML) with t (8; 21). METHODS: Seventy patients having FISH results were divided into two groups: untreated and treated group. Comparative analysis was performed between the results of conventional cytogenetic analysis (CCA) and FISH analysis, and in some of them, between FISH and reverse transcriptase polymerase chain reaction (RT-PCR) results. A successive FISH following R-banding was carried out in those with cytogenetic undetermined cases. RESULTS: In untreated group, 30/42 cases of t (8; 21) AML were positive for AML1/ETO in FISH assay. Three cases were positive for AML/ETO by FISH although two of them lacked t (8; 21) by CCA and one negative for AML1/ETO by RT-PCR. Six cases with complex karyotype abnormalities were confirmed to be AML1/ETO positive by the successive R-banding and FISH assay, and the involved genes were clearly visualized in FISH image. In the treated group, there were 28 cases of t (8; 21) AML diagnosed. Three cases without t (8; 21) by CCA were positive by FISH. Two patients were detected relapse earlier by FISH. CONCLUSION: The dual-color FISH technique is a much more sensitive and accurate approach to the diagnosis of t (8; 21) AML and minimal residual disease (MRD) monitoring. It can also provide precise mapping of fusion signals in complex karyotype.

Adolescent↗

PubMed2006

[Clinical and laboratory study of a complex translocation t (6; 21; 8) (p22; q22; q22) in two patients with acute myeloid leukemia].

OBJECTIVE: To investigate the clinical and laboratory characteristics of a complex translocation t (6; 21; 8) (p22; q22; q22) in two patients with acute myeloid leukemia. METHODS: Bone marrow (BM) samples were collected at presentation, prepared by short-term (24 hours) unstimulated culture and R-binding, for conventional cytogenetic assay (CCA). The complex translocation was assayed by fluorescence in situ hybridization (FISH) with a dual-color AML1/ETO-specific probe. AML1/ETO chimeric transcript was detected by reverse transcription polymerase chain reaction (RT-PCR). RESULTS: In both cases CCA demonstrated a complex translocation, t (6; 8; 21) (p22; q22; q22), which was confirmed by interphase and metaphase FISH and AML1/ETO fusion transcript was detected by RT-PCR. Both the two patients were diagnosed as AML-M(2), but with different immunophenotype and therapeutic outcome. CONCLUSION: The t (6; 21; 8) (p22; q22; q22) is a rare variant of complex translocation of t (8; 21) (q22; q22). More such cases are needed for elucidating its clinical features and prognosis.

Acute Disease↗

PubMed2005

[Conventional cytogenetics and fluorescence in situ hybridization as methods for detecting MLL gene rearrangements in leukemia].

This study was aimed to compare the values of conventional cytogenetics (CC), interphase FISH and sequential R-banding and FISH analysis as methods for detecting MLL gene rearrangements. 37 acute leukemia patients were studied by CC and interphase FISH. The results showed that among them, 10 cases were 11q23(+)/MLL(+), 2 cases were 11q23(-)/MLL(+) (5.4%), 3 cases were 111q23(+)/MLL(-) (8.1%) and 22 cases were 11q23(-)/MLL(-). For some patients, different results were obtained by using CC and interphase FISH for detecting 11q23/MLL gene rearrangements. After sequential R-banding and FISH analysis for 6 patients, the chromosome related to MLL gene translocation was seen clearly in karyotypes and FISH image. It is concluded that for accurate diagnosis both CC and FISH are needed for detecting 11q23/MLL gene rearrangements, and evaluation is needed in combination of these two results. When necessary, it needs to do sequential R-banding and FISH or molecular analysis.

Adolescent↗

PubMed2004

IGH gene involvement in two cases of acute lymphoblastic leukemia with t(14;14)(q11;q32) identified by sequential R-banding and fluorescence in situ hybridization.

Translocation (14;14)(q11;q32) or inv(14)(q11q32) is a common cytogenetic aberration in T-cell leukemia associated with ataxia-telangiectasia (AT); however, rare reports have indicated that this abnormality also occurs in B-lineage acute lymphoblastic leukemia (ALL). We report here two cases with common-type ALL exhibiting the chromosomal aberration t(14;14)(q11;q32). The immunophenotype showed the blasts were positive for CD9, CD10, CD38, CD22, and CD15 in case 1 and positive for CD2, CD9, CD10, CD19, CD38, CD20, and CD22 in case 2, but negative for CD3, CD4, and CD8 expression in both cases. The cytogenetic analysis revealed del(6)(q22), and t(14;14)(q11;q32) in case 1 and t(14;14)(q11;q32),+mar in case 2. Fluorescence in situ hybridization (FISH) and sequential R-banding FISH assay with dual-color break-apart IGH probe confirmed that t(14;14)(q11;q32) involved the IGH gene in our cases. The results indicate that the t(14;14)(q11;q32) involving IGH at 14q32 in B-lineage ALL in our cases differ from those reported to involve the TCL1 gene on 14q32.1 in T-cell leukemia associated with AT. Sequential R-banding and FISH provide precise analysis of alterations of chromosomes and genes involved.

Adult↗

PubMed2004

[Study of the childhood acute lymphoblastic leukemia with t(12;21)].

OBJECTIVE: To explore the incidence, clinical characteristics and prognosis of childhood acute lymphoblastic leukemia (ALL) with t(12;21). METHODS: t(12;21)/TEL-AML1 fusion gene was examined in bone marrow or peripheral blood mononuclear cells from 51 newly diagnosed childhood ALL patients by conventional cytogenetic R-banding analysis (CCA), dual colour interphase fluorescence in situ hybridization (I-FISH), and nested reverse transcriptase-polymerase chain reaction (RT-PCR). RESULTS: t(12; 21)/TEL-AML1 fusion gene was found in 11 cases by FISH or PCR, accounting for 21.6% and 26.9% in childhood ALLs and in non-T lineage ALL cases, respectively. The median age at diagnosis was 6.8 (2.9 to 12) years. All of the t(12;21) patients expressed non-T lineage immunophenotype, and most of them were common-ALL. High myeloid antigen coexpression was not found. In 11 CCA cases, normal karyotype was found in 7, and a dubious t(12;21) in one. TEL allele deletion was found in 8 (72.7%) of t(12;21) positive cases by FISH. By comparison, no statistic difference was found in sex, anemia, hemorrhage, organ enlargement, and initial WBC count between the positive and negative non-T lineage ALLs, but the platelet count and the frequency of IgH gene rearrangement were much lower in positive cases (P = 0.008 and 0.007, respectively). Moreover, no difference was found in overall CR rate, CR rate within 4 weeks, CR duration and relapse rate between the two groups. CONCLUSION: t(12;21) was the most common chromosomal translocation in childhood ALL, but not all of them could be detected by CCA. t(12;21) cases showed non-T cell immunotypes, most of them were CD(10)(+) ALL. TEL allele deletion was common in these cases. There was no significant difference in clinical characteristics and short term outcome between the t(12;21) and the TEL-AML1 negative cases. In our data, Chinese t(12;21) ALL showed older in age, lower BPC, lower IgH rearrangement frequency and more of normal karyotype as compared with the reports abroad.

Child↗

PubMed2004

[Clinical and cytogenetic features of 29 cases of myelodysplastic syndrome associated with del(20q)].

OBJECTIVE: To analyze the clinical and cytogenetic features of myelodysplastic syndrome(MDS) associated with del(20q). METHODS: The cytogenetic profiles, clinical manifestations, laboratory data, and transformation in course of disease were analyzed. RESULTS: (1) Of 29 MDS patients with del(20q), eleven (37.9%) had normal karyotype in addition to del(20q) aberration. Among them, nine patients were categorized into refractory anemia(RA)/RA with ringed sideroblasts(RAS) group and two into RA with excess Hasts(RAEB)/RAEB in transformation(RAEB-T) group. The breakpoint in 20q11 was commonly seen in patients with RA/RAS(63.2%), while del(20q12) was predominant in patients with RAEB/RAEB-T(accounting for 70% in all RAEB/RAEB-T patients). It was observed that RAEB/RAEB-T patients had higher frequencies of extra chromosomal aberrations(50%) and complex karyotype(30%) than did the RA/RAS patients (26.3%, 5.3% respectively); (2) Almost all patients revealed prominent pancytopenia, dyserythropoiesis and dysgranulopoiesis and 58.6% patients showed dysmegakaryopoiesis; positive periodic acid schiff staining of nucleated erythrocytes or reduction of neutrophils were found in 62.5% of patients; 81.8% of patients expressed lymphoid antigens; (3) Two cases transformed to acute myeloid leukemia. CONCLUSION: Del(20q) may be an early and primary cytogenetic event in the development of hematologic malignancies. Pancytopenia and dysplasia of bone marrow cells are prominent in patients with MDS associated with del(20q); lymphoid antigen expression is a common occurrence; more additional chromosomal abnormalities and complex karyotypes appear when the disease becomes worse.

Adolescent↗

PubMed2004

[Analysis and identification of variant Ph chromosome translocation in patients with chronic myelogenous leukemia by conventional cytogenetics and fluorescence in situ hybridization].

The objective of this study was to explore the cytogenetic profiles of variant Ph chromosome translocations (VT) in patients with chronic myelogenous leukemia (CML) and to assess the applications of fluorescence in situ hybridization (FISH) technique for analysis of CML patients with variant translocation by using dual color-single fusion signal (DC-SF) and dual color-dual fusion signal (DC-DF) probe. 42 CML patients with VT were studied by conventional cytogenetic analysis (CCA). Among them, nine and eleven cases were analyzed by DC-SF-FISH and DC-DF-FISH, respectively. The results showed that 42 out of 643 (6.5%) CML cases received CCA were found to have VT, which were composed of 18 cases of simple VT, 23 of complex VT and one of masked VT. The VT involved all over the chromosomes but No. 4 and 6. Four patterns of them appeared recurrent because each occurred in at least two cases. VT with additional chromosomal aberrations were shown in 35.7% of patients with VT (15/42). 19 of 20 patients who received FISH detection were positive for bcr/abl fusion. DC-DF-FISH analysis revealed absence of abl/bcr fusion signal in all patients but one (8.8%) with abl/bcr positive cells. However, it was not an implication of gene loss but the translocation led to part of bcr retaining on der (9q34) and other part of bcr translocating to involve another chromosome. It was unable to observe variant signal features by DC-SF-FISH analysis. In conclusion, variant Ph translocations in CML involved almost all chromosomes in a varying frequencies and ways except chromosomes 9 and 22, and some of them showed recurrent aberrations. FISH provides accurate molecular diagnosis for CML with VT, while DC-DF-FISH facilitates the assessment of variant signals.

Adult↗

PubMed2004

[The application of fluorescence in situ hybridization to diagnosis of acute promyelocytic leukemia].

OBJECTIVES: To explore whether PML/RAR alpha fusion gene presented in patients with typical clinical characteristics of acute promyelocytic leukemia (APL) but normal karyotype or atypical translocation of chromosomes 15 and 17 by conventional cytogenetic analysis (CCA), and to assess the application of fluorescence in situ hybridization (FISH) to diagnosis of APL. METHODS: 193 newly diagnosed APL patients received CCA in our hospital, 32 cases of whom were carried out FISH analysis, and some of the patients received reverse transcriptase polymerase chain reaction (RT-PCR) detection. RESULTS: 132 of 193 (68.4%) cases were identified to have t(15;17) (q22;q12) by CCA. The selected 32 patients were divided into three groups according to CAA results: group 1 included 14 cases with typical t(15;17), group 2 included 13 cases without t(15;17), and group 3 included five cases with complex karyotype involving chromosomes 15 and 17. As expected, all cases in group 1 were detected PML/RAR alpha fusion by FISH. In group 2, all patients presented the same molecular abnormality by FISH in spite of absence of t(15;17), and in group 3, FISH not only detected PML/RAR alpha fusion but also identified the fusion signals located on chromosomes, other than chromosome 15q. CONCLUSION: All the APL with typical clinical characteristics can be detected PML/RAR alpha fusion by FISH or RT-PCR regardless of classical t(15;17). FISH is more sensitive for molecularly diagnosis of APL, and can identify the precise location of the fusion signals in complex karyotype. It is necessary in clinically APL patients with no or atypical chromosomal abnormalities to perform FISH analysis.

Adolescent↗

PubMed2003

[Molecular cytogenetic analysis of -7/7q- abnormalities in patients with myeloid malignancies].

OBJECTIVE: To accurately evaluate the incidence of -7/7q- abnormality in acute myeloblastic leukemia (AML) and myelodysplastic syndrome (MDS) patients and investigate the value of fluorescence in situ hybridization (FISH) technique in the detection and identification of -7 and 7q abnormality. METHODS: A FISH assay was performed to analyze 70 AML/MDS patients who had received conventional cytogenetic analysis (CCA). The dual color probes CEP 7 labeled by SpectrumGreen and D7S486 (locus at 7q31) labeled by SpectrumOrange were used. RESULTS: The incidence of -7/7q- in AML and MDS patients was 4.51% (31 out of 687 cases) and 5.71% (28 out of 490 cases), respectively, and was 5.68% and 10.29% in these patients with abnormal karyotype, respectively. The common deletion region of 7q- was 7q21a222 (ten cases) and 7q31-35(ten cases). FISH assay confirmed the -7/7q- aberration in those with clonal -7/7q- abnormalities, but failed in those with random -7/7q- and normal karyotype. In 7q- group, FISH revealed seven of eleven cases with monosomy 7 clone detected in the same specimen, but the numbers of 7q- interphases cells were much greater than those of monosomy 7 cells (average 42.5% vs 8.4%, P=0.025). FISH also provided precise refinement for three chromosomal structural abnormalities associated with 7q seen in CAA, one case with del(7)(q22) being refined as chromosomal translocation, one case with 7q+ being confirmed as dup(7q), and one case with complex translocation involving 7q being also proved to be true. CONCLUSION: FISH is a powerful tool to identify or refine chromosomal structural aberrations involving 7q, and it provides accurate evaluation of -7/7q- in all the patients. -7 and 7q- clone frequently coexist in the same specimen, and the significantly increasing percentage of 7q- cells implies that -7 clone secondary to 7q- clone is a result from loss of 7q-.

Adult↗

PubMed2002

[Comparison of detection of trisomy 8 with fluorescence in situ hybridization and conventional karyotype analysis in myelodysplastic syndrome].

The purpose of this study was to compare the detection of trisomy 8 in myelodysplastic syndrome (MDS) patients with interphase fluorescence in situ hybridization (FISH) and cytogenetic karyotype analysis. Using Spectrum Green labeled chromosome 8 centromere probe, interphase FISH was established. The trisomy 8 clones were simultaneously detected in 48 MDS cases with FISH and conventional cytogenetic analysis (CCA). Results showed that the CCA revealed no significant difference of constitutional proportion between MDS-RA and MDS-RAEB with karyotypes of whole +8, partial +8 and one +8. With FISH, detectable rates were 66.1% for whole +8. Partial +8 and sole +8 were significantly higher than one +8 and complex +8, respectively. The percentages of trisomy 8 were similar in MDS-RA and MDS-RAEB. Trisomy 8 was detected in 1 of 15 specimens with normal or abnormal karyotype without trisomy 8 by FISH. There was linear correlation between the percentages of partial +8 detected by FISH and CCA. Two patients received CCA and FISH examination at diagnosis and during treatment, the percentage of trisomy 8 was increased with progress of disease. In conclusion, our results showed that FISH is a sensitive and accurate technique to detect trisomy 8 in MDS patients. It can provide contribute to diagnosis, assessment of curative effect and predicting progress of disease in MDS. Clone size of trisomy 8 does not related to classification of MDS, but sole +8 is seems to see in MDS-RA frequently.

Chromosomes, Human, Pair 8↗