1.Whole exome sequencing identified new candidate genes for prostate cancer
Youjie GONG ; Na YU ; Qing CHEN ; Xinyan YANG ; Sizheng TAO ; Jing SHEN ; Yan HUANG ; Zhihou MA ; Jie GAO ; Haoming HUA ; Hongqun WANG
Chinese Journal of Clinical and Experimental Pathology 2025;41(10):1345-1351
Purpose Discover new prostate cancer-related single nucleotide variants.Methods Tissue wax blocks from 21 prostate cancer patients who underwent radical surgery and had relatively complete clinical data were collected for somatic mutation detection to analyze new mutated genes associated with prostate cancer.The levels of cor-responding proteins in the urine of prostate cancer patients were tested according to the results of the selected genes.Results All 21 prostate cancer patients showed obvious somatic mutations,and the mutation types were dominated by C>T and G>A.The number of somatic mutations was 521,of which 27 genes had high mutation proportions(≥2 ca-ses),including ZSWIM6(5/21),FOXA1(4/21),SPTA1(2/21),FAM47C(2/21),FLG2(2/21),PRSS3(2/21),TP53(2/21),FLG(2/21),UBR4(2/21),and the mutations occurring in ZSWIM6 were all deletion muta-tions,and the mutations occurring in FOXA1 were missense mutations,deletion mutations,and deletion insertion mu-tations.The urinary levels of UPF1,SPTA1,and IDH1 proteins of the 10 prostate cancer patients were significantly different than those of the healthy controls.Correlation analysis showed that FOXA1 was positively correlated with UBR4(r=0.669,P=0.001),SPTA1 was positively correlated with FLG2(r=1.000,P<0.001),FAM47C was positively correlated with PRSS3(r=1.000,P<0.001),and there was a significant positive correlation between TP53 and FLG(r=1.000,P<0.001).ZSWIM6 and FOXA1 were not correlated with biochemical recurrence.SP-TA1 mutation affected progression-free survival(PFS)[(66.0±0)months vs(30.0±7.8)months,P=0.008].FAM47C was positively correlated with PFS[(66.0±0)months vs(19.0±0)months,P<0.001].ZNF676 was correlated with PFS[(66.0±0)months vs(26.0±5.0)months,P=0.008].FLG2 was correlated with PFS[(66.0±0)months vs(30.0±7.8)months,P=0.008].PRSS3 was correlated with PFS[(66.0±0)months vs(19.0±0)months,P<0.001].Conclusion All 21 prostate cancer patients harbored somatic mutations,including ZSWIM6(5/21)and FOXA1(4/21)mutations.SPTA1,FAM47C,ZNF676,FLG2,and PRSS3 may be associated with prognosis.
2.Clinicopathologic characteristics and prognostic analysis of follicular thyroid carci-nomas
Hongqun WANG ; Xin SONG ; Peng LIU ; Youjie GONG ; Ying LI ; Huaiyin SHI
Chinese Journal of Clinical and Experimental Pathology 2025;41(1):51-59
Purpose To investigate the clinicopathologic characteristics and prognostic factors of follicular thyroid carcinomas(FTC).Methods The clinical and pathological data of 205 FTC patients were collected,and the clinico-pathologic characteristics of FTC and its impact on prognosis were analyzed.Results The most common site of metas-tasis of FTC was bone(25.4%),which were mainly vertebrae and pelvis,followed by lung(15.6%).The factors that affecting distant metastasis(DM)were as follows:≥2 tumor foci,stage(Ⅲ-Ⅳ),patients'age(≥55 years,ex-tensive invasive type,recurrent FTC,postoperative/post-treatment recurrence and metastasis,and patients with com-plete tumor resection had less DM(P<0.05,respectively).The factors that affecting the number of tumor foci includ-ed age,stage(Ⅲ-Ⅳ),extensive invasive type,recurrent FTC,distant metastasis and history of hypertension,more recurrence and metastasis after surgery/treatment(P<0.05,respectively).Univariate survival analysis showed that factors affecting the overall survival(OS)and cancer-specific survival(CSS)of FTC were as follows:the number of tumor foci,stage,patients'age,surgical mode,extensive invasive type,DM,smoking,and postoperative/post-treat-ment recurrence.Cox multivariate regression analysis showed that stage,smoking and distant metastasis affected OS and/or CSS,and stage,extensive invasive type and recurrent FTC affected relapse-free survival(RFS).Compared with the group of FTC without undifferentiated carcinoma(UTC),the group of FTC with UTC had later stage(Ⅲ-Ⅳ,100.0%vs 32.0%),older age(≥ 60 years old,87.5%vs 37.6%),bigger size(>4 cm,100.0%vs 44.2%),higher proportion of extensive infiltration type(100.0%vs 33.3%),shorter survival time[CSS(4.429±1.152)months vs(120.415±5.765)months,P<0.001].Conclusion The most common site of distant metastasis of FTC is bone.Older patients,extensively invasive type and recurrent cancer are prone to multifocal and distant me-tastases.There were many prognostic factors affecting of FTC.The group of FTC with UTC has worse prognosis.
3.Whole exome sequencing identified new candidate genes for prostate cancer
Youjie GONG ; Na YU ; Qing CHEN ; Xinyan YANG ; Sizheng TAO ; Jing SHEN ; Yan HUANG ; Zhihou MA ; Jie GAO ; Haoming HUA ; Hongqun WANG
Chinese Journal of Clinical and Experimental Pathology 2025;41(10):1345-1351
Purpose Discover new prostate cancer-related single nucleotide variants.Methods Tissue wax blocks from 21 prostate cancer patients who underwent radical surgery and had relatively complete clinical data were collected for somatic mutation detection to analyze new mutated genes associated with prostate cancer.The levels of cor-responding proteins in the urine of prostate cancer patients were tested according to the results of the selected genes.Results All 21 prostate cancer patients showed obvious somatic mutations,and the mutation types were dominated by C>T and G>A.The number of somatic mutations was 521,of which 27 genes had high mutation proportions(≥2 ca-ses),including ZSWIM6(5/21),FOXA1(4/21),SPTA1(2/21),FAM47C(2/21),FLG2(2/21),PRSS3(2/21),TP53(2/21),FLG(2/21),UBR4(2/21),and the mutations occurring in ZSWIM6 were all deletion muta-tions,and the mutations occurring in FOXA1 were missense mutations,deletion mutations,and deletion insertion mu-tations.The urinary levels of UPF1,SPTA1,and IDH1 proteins of the 10 prostate cancer patients were significantly different than those of the healthy controls.Correlation analysis showed that FOXA1 was positively correlated with UBR4(r=0.669,P=0.001),SPTA1 was positively correlated with FLG2(r=1.000,P<0.001),FAM47C was positively correlated with PRSS3(r=1.000,P<0.001),and there was a significant positive correlation between TP53 and FLG(r=1.000,P<0.001).ZSWIM6 and FOXA1 were not correlated with biochemical recurrence.SP-TA1 mutation affected progression-free survival(PFS)[(66.0±0)months vs(30.0±7.8)months,P=0.008].FAM47C was positively correlated with PFS[(66.0±0)months vs(19.0±0)months,P<0.001].ZNF676 was correlated with PFS[(66.0±0)months vs(26.0±5.0)months,P=0.008].FLG2 was correlated with PFS[(66.0±0)months vs(30.0±7.8)months,P=0.008].PRSS3 was correlated with PFS[(66.0±0)months vs(19.0±0)months,P<0.001].Conclusion All 21 prostate cancer patients harbored somatic mutations,including ZSWIM6(5/21)and FOXA1(4/21)mutations.SPTA1,FAM47C,ZNF676,FLG2,and PRSS3 may be associated with prognosis.
4.Clinicopathologic characteristics and prognostic analysis of follicular thyroid carci-nomas
Hongqun WANG ; Xin SONG ; Peng LIU ; Youjie GONG ; Ying LI ; Huaiyin SHI
Chinese Journal of Clinical and Experimental Pathology 2025;41(1):51-59
Purpose To investigate the clinicopathologic characteristics and prognostic factors of follicular thyroid carcinomas(FTC).Methods The clinical and pathological data of 205 FTC patients were collected,and the clinico-pathologic characteristics of FTC and its impact on prognosis were analyzed.Results The most common site of metas-tasis of FTC was bone(25.4%),which were mainly vertebrae and pelvis,followed by lung(15.6%).The factors that affecting distant metastasis(DM)were as follows:≥2 tumor foci,stage(Ⅲ-Ⅳ),patients'age(≥55 years,ex-tensive invasive type,recurrent FTC,postoperative/post-treatment recurrence and metastasis,and patients with com-plete tumor resection had less DM(P<0.05,respectively).The factors that affecting the number of tumor foci includ-ed age,stage(Ⅲ-Ⅳ),extensive invasive type,recurrent FTC,distant metastasis and history of hypertension,more recurrence and metastasis after surgery/treatment(P<0.05,respectively).Univariate survival analysis showed that factors affecting the overall survival(OS)and cancer-specific survival(CSS)of FTC were as follows:the number of tumor foci,stage,patients'age,surgical mode,extensive invasive type,DM,smoking,and postoperative/post-treat-ment recurrence.Cox multivariate regression analysis showed that stage,smoking and distant metastasis affected OS and/or CSS,and stage,extensive invasive type and recurrent FTC affected relapse-free survival(RFS).Compared with the group of FTC without undifferentiated carcinoma(UTC),the group of FTC with UTC had later stage(Ⅲ-Ⅳ,100.0%vs 32.0%),older age(≥ 60 years old,87.5%vs 37.6%),bigger size(>4 cm,100.0%vs 44.2%),higher proportion of extensive infiltration type(100.0%vs 33.3%),shorter survival time[CSS(4.429±1.152)months vs(120.415±5.765)months,P<0.001].Conclusion The most common site of distant metastasis of FTC is bone.Older patients,extensively invasive type and recurrent cancer are prone to multifocal and distant me-tastases.There were many prognostic factors affecting of FTC.The group of FTC with UTC has worse prognosis.

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