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Impact of mismatch repair genes deficiency on survival outcomes and establishment of a novel prognostic prediction model for stage I-II endometrial carcinoma 错配修复基因缺失对I-II期子宫内膜癌生存结果的影响及新型预后预测模型的建立
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1016/j.tjog.2025.08.004
Wenhui Wang , Zihan Yan , Yuanyuan Chen , Kang Ren , Xiaorong Hou , Ke Hu , Fuquan Zhang

Objective

Pathological characteristics and MMR status can be determined from microscopic indicators and immunohistochemical (IHC) staining of surgical specimens, and these approaches are more cost-effective and convenient than genome profiling tests. We aimed to evaluate the impact of MMR deficiency on survival outcomes and build a new prognostic model for early-stage endometrial carcinoma (EC) patients.

Materials and methods

Patients with stage I to II EC who underwent hysterectomy followed by adjuvant radiotherapy from Oct. 2017 to Dec. 2020 at our institution were retrospectively reviewed. Tumor MMR status was routinely tested by IHC. According to MMR status, they were classified into intact MMR (MMRp) group and defective MMR (MMRd) group.

Results

Patients were classified into MMRp group (n = 207) and MMRd group (n = 69). Compared with those in the MMRp group, patients in the MMRd group were more likely to have high-grade disease, LVSI, and high-intermediate risk (HIR)-to-high risk (HR) classifications. The 3-year CSS, DFS, and DMFS rates were significantly lower in the MMRd group. When patients were stratified by risk group, DFS and DMFS were significantly worse among MMRd patients in the HIR-to-HR group. Regarding failure patterns, MMRd patients were more likely to experience distant failure. Among 276 patients, multivariate Cox analysis revealed that ER or PR status, myometrial invasion (MI), MMR status, and LVSI were independent prognostic factors for DFS, whereas ER or PR status, MMR status, and MI were significant predictors of DMFS. A prediction model combining the MMR status and the significant prognostic predictors mentioned above in the multivariate analysis was built through nomogram models.

Conclusion

Among early-stage EC patients, MMRd group had poorer survivals. Combination of MMR status and other clinicopathological factors could establish a new prognostic model. Prospective studies with full molecular sequencing to determine the prognostic significance of MMR status are needed.
目的通过手术标本的显微指标和免疫组化（IHC）染色来确定病理特征和MMR状态，这些方法比基因组谱检测更经济、更方便。我们旨在评估MMR缺乏对早期子宫内膜癌（EC）患者生存结果的影响，并建立一个新的预后模型。材料与方法回顾性分析我院2017年10月至2020年12月行子宫切除术后辅助放疗的I ~ II期EC患者。常规免疫组化检测肿瘤MMR状态。根据MMR状态分为完整MMR （MMRp）组和缺陷MMR （MMRd）组。结果患者分为MMRp组（207例）和MMRd组（69例）。与MMRp组相比，MMRd组患者更有可能出现高级别疾病、LVSI和高-中危(HIR)-高危（HR）分类。MMRd组的3年CSS、DFS和DMFS率显著降低。当患者按风险组分层时，hir - hr组MMRd患者的DFS和DMFS明显更差。关于失败模式，MMRd患者更有可能经历远端失败。在276例患者中，多因素Cox分析显示，ER或PR状态、肌层浸润（MI）、MMR状态和LVSI是DFS的独立预后因素，而ER或PR状态、MMR状态和MI是DMFS的重要预测因素。通过nomogram模型，将多变量分析中MMR状态与上述显著预后预测因子相结合，建立预测模型。结论在早期EC患者中，MMRd组生存率较低。MMR状态与其他临床病理因素的结合可建立新的预后模型。需要进行全分子测序的前瞻性研究，以确定MMR状态的预后意义。
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引用次数: 0
Prenatal diagnosis of a 2.61-Mb de novo 22q11.21 microduplication encompassing TBX1 in a pregnancy associated with no apparently phenotypic abnormality in the fetus 产前诊断胎儿中包含TBX1的2.61 mb新生22q11.21微重复，胎儿无明显表型异常
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1016/j.tjog.2025.11.007
Chih-Ping Chen
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引用次数: 0
Mosaic 17q24.3q25.3 duplication at amniocentesis in a pregnancy associated with a favorable fetal outcome in a male fetus 妊娠期羊膜穿刺术中嵌合17q24.3q25.3重复与男性胎儿的良好胎儿结局相关
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1016/j.tjog.2025.11.018
Chih-Ping Chen
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引用次数: 0
A case of Hirschsprung disease of total intestinal aganglionosis with intestinal dilatation and peristalsis on prenatal ultrasound 全肠神经节病伴肠扩张蠕动的先天性巨结肠病1例
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1016/j.tjog.2025.08.006
Yumi Shimizu, Yuri Hamada, Takeshi Murakoshi

Objective

To present a case of total intestinal aganglionosis (TIA), which is the rarest form of Hirschsprung disease (HD) and is difficult to diagnose prenatally owing to nonspecific prenatal ultrasound findings.

Case report

In a 34-year-old primipara with a history of HD (total colonic aganglionosis), intestinal dilatation with intestinal movement like peristalsis was observed in the fetus starting at 36 weeks of gestation. By 38 weeks of gestation, the fetal abdominal circumference had increased, prompting cesarean section delivery. Prenatal ultrasound and postnatal barium enema findings suggested small intestinal obstruction, and the infant underwent laparotomy. However, HD was suspected based on the small intestinal dilatation associated with caliber changes. A full-layer biopsy from the dilated small intestine to the stomach revealed no ganglion cells, leading to a diagnosis of TIA.

Conclusion

Prenatal ultrasonography may reveal fetal intestinal dilatation with intestinal movement like peristalsis in HD, even in the aganglionic portion.
目的报告1例全肠神经节病（TIA），这是先天性巨结肠疾病（HD）中最罕见的一种，由于产前超声检查结果不明确，故难以诊断。病例报告：34岁有全结肠神经节病（HD）病史的初产妇，从妊娠36周开始，观察到胎儿肠扩张伴肠蠕动。妊娠38周时，胎儿腹围增大，促使剖宫产。产前超声和产后钡灌肠结果提示小肠梗阻，婴儿接受剖腹手术。然而，根据与口径变化相关的小肠扩张，怀疑HD。从扩张的小肠到胃的全层活检显示没有神经节细胞，导致TIA的诊断。结论产前超声检查可显示胎儿肠扩张，肠蠕动类似于HD，甚至在神经节部分。
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引用次数: 0
Mosaic distal 11q deletion or 46,XY,del(11)(q23)/46, XY at amniocentesis and cordocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome 妊娠中羊膜穿刺术和脐带穿刺术中46，XY,del(11)(q23)/46， XY的嵌合远端11q缺失与围产期非整倍体细胞系的进行性减少和良好的胎儿结局相关
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1016/j.tjog.2025.11.005
Chih-Ping Chen
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引用次数: 0
Mosaicism for 47,XXX or 47,XXX/46,XX at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the 47,XXX cell line 47，XXX或47，XXX/46，XX在妊娠羊膜穿刺术中嵌合，结果良好，围产期47，XXX细胞系无明显减少
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1016/j.tjog.2025.11.006
Chih-Ping Chen
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引用次数: 0
Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome detected by amniocentesis and derived from the acrocentric chromosome 14/22 羊膜穿刺术检测到一条源自14/22外中心染色体的新生小多余标记染色体的分子细胞遗传学特征
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1016/j.tjog.2025.11.009
Chih-Ping Chen , Ming Chen , Gwo-Chin Ma , Shun-Ping Chang , Wayseen Wang
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引用次数: 0
The role of secondary cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for treating recurrent ovarian cancer 二次细胞减少术和腹腔热化疗治疗复发性卵巢癌的作用
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2026-01-01 Epub Date: 2026-01-28 DOI: 10.1016/j.tjog.2025.10.001
Peng-Hui Wang , Brahmana Askandar Tjokroprawiro , Jae-Weon Kim
{"title":"The role of secondary cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for treating recurrent ovarian cancer","authors":"Peng-Hui Wang ,&nbsp;Brahmana Askandar Tjokroprawiro ,&nbsp;Jae-Weon Kim","doi":"10.1016/j.tjog.2025.10.001","DOIUrl":"10.1016/j.tjog.2025.10.001","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 1","pages":"Pages 1-3"},"PeriodicalIF":2.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146057426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
High-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, a positive non-invasive prenatal testing for trisomy 9, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line, a heterozygous missense mutation of the PIEZO2 gene and an adverse fetal outcome 妊娠期羊膜穿刺术中高水平镶嵌9三体与宫内生长受限、9三体无创产前检测阳性、培养羊膜细胞与未培养羊膜细胞的细胞遗传学差异、围产期9三体细胞系进行性减少、PIEZO2基因杂合错义突变和不良胎儿结局相关
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2025-11-01 Epub Date: 2025-11-08 DOI: 10.1016/j.tjog.2025.09.011
Chih-Ping Chen , Shin-Yu Lin , Fang-Tzu Wu , Yen-Ting Pan , Wayseen Wang
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引用次数: 0
Ascites after assistance reproductive technology 辅助生殖技术后腹水
IF 2.2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Taiwanese Journal of Obstetrics & Gynecology
Pub Date : 2025-11-01 Epub Date: 2025-11-08 DOI: 10.1016/j.tjog.2025.09.020
Szu-Ting Yang, Wen-Hsun Chang, Peng-Hui Wang
{"title":"Ascites after assistance reproductive technology","authors":"Szu-Ting Yang,&nbsp;Wen-Hsun Chang,&nbsp;Peng-Hui Wang","doi":"10.1016/j.tjog.2025.09.020","DOIUrl":"10.1016/j.tjog.2025.09.020","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 6","pages":"Pages 944-946"},"PeriodicalIF":2.2,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145475764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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