Gynecologic Oncology Reports最新文献_第10页

Adverse events beyond the RUBY trial: reporting immunotherapy-associated myocarditis, myositis, and myasthenia gravis in a real-world endometrial cancer case RUBY试验之外的不良事件：报告真实世界子宫内膜癌病例中免疫治疗相关的心肌炎、肌炎和重症肌无力

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-09-08 DOI: 10.1016/j.gore.2025.101950

Yasmin Abozenah , Blair McNamara , Michelle Greenman , Emily Daigle , John Paul Mikhaiel , Daniel DiCapua , Jennifer Kwan , Masoud Azodi , Gary Altwerger

Objectives

To report a rare case of immune checkpoint inhibitor (ICI)-associated myocarditis, myositis, and myasthenia gravis (MMM syndrome) in a patient with advanced endometrial cancer treated with dostarlimab, highlighting the diagnostic and therapeutic challenges, in addition to the importance of biomarker-informed treatment selection.

Methods

We report the case of a 75-year-old woman with unresectable stage IIIC2 endometrial adenocarcinoma and mismatch repair (MMR) deficiency treated with carboplatin and paclitaxel, followed by dostarlimab. After initiation of dostarlimab, the patient presented with neuromuscular and cardiac symptoms, leading to the diagnosis of myocarditis, myositis, myasthenia gravis (MMM) syndrome requiring hospitalization. A multidisciplinary care including neurologic, cardiac, and critical care management was required.

Results

The patient developed MMM syndrome 81 days after starting dostarlimab, presenting with bilateral ptosis, dysphagia, diplopia and respiratory compromise. Evaluation revealed elevated troponins, elevated creatine kinase, and a positive acetylcholine receptor antibody. Cardiac MRI confirmed myocarditis. Management included high-dose steroids, mycophenolate, IVIG, abatacept, and tofacitinib, with initial stabilization.

Conclusions

MMM syndrome is a rare but life-threatening complication of ICI therapy. Early recognition and multidisciplinary management are crucial. This case underscores the importance of weighing the risks and benefits of initiating immunotherapy and utilizing biomarker-driven clinical decisions.

目的：报告一例罕见的免疫检查点抑制剂（ICI）相关心肌炎、肌炎和重症肌无力（MMM综合征）患者接受多斯塔利单抗治疗的晚期子宫内膜癌，突出诊断和治疗的挑战，以及生物标志物告知治疗选择的重要性。方法我们报告一名75岁的妇女，患有不可切除的IIIC2期子宫内膜腺癌和错配修复（MMR）缺陷，用卡铂和紫杉醇治疗，然后用多司他单抗治疗。开始使用多司他单抗后，患者出现神经肌肉和心脏症状，诊断为心肌炎、肌炎、重症肌无力（MMM）综合征，需要住院治疗。需要多学科的护理，包括神经、心脏和重症监护管理。结果患者在使用多司他单抗81天后出现MMM综合征，表现为双侧上睑下垂、吞咽困难、复视和呼吸衰竭。评估显示肌钙蛋白升高，肌酸激酶升高，乙酰胆碱受体抗体阳性。心脏MRI证实心肌炎。治疗包括大剂量类固醇、霉酚酸酯、IVIG、阿巴接受和托法替尼，初始稳定。结论smmm综合征是ICI治疗中一种罕见但危及生命的并发症。早期识别和多学科管理至关重要。该病例强调了权衡启动免疫治疗和利用生物标志物驱动的临床决策的风险和收益的重要性。

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引用次数: 0

Diagnosis and treatment of a mixed ovarian malignant germ cell tumor with glioblastoma transformation 卵巢恶性生殖细胞瘤合并胶质母细胞瘤的诊断与治疗

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-09-07 DOI: 10.1016/j.gore.2025.101945

M.A. Sylvester , D. Spinosa , A. Encarnacion , A. Berning , J. Alldredge

Objectives

Mixed malignant germ cell tumors of the ovary consist of two or more germ cell components, and are a rare but aggressive gynecologic malignancy which typically affect women in early reproductive years. Very few cases of mixed malignant germ cell tumors with glioblastoma component are reported in the literature, and little is known about the most appropriate chemotherapy regimen and long-term outcomes for these rare tumor presentations.

Methods

Presented here is the case of a 44-year-old female patient diagnosed with a stage III mixed malignant germ cell tumor of the ovary consisting of immature teratoma (95%) and yolk sac tumor (5%), with concurrent transformation of mature neural tissue to glioblastoma. The patient underwent primary staging surgery with evidence of gliomatosis peritonei on final pathology.

Results

In collaboration with neuro-oncology, the decision was made to not alter adjuvant treatment plan on account of the glioblastoma component of this case, so the patient underwent adjuvant chemotherapy with four cycles of bleomycin, etoposide, and cisplatin (BEP) and has been followed for 2.5 years from completion with no evidence of recurrence.

Conclusions

The case presented here discusses the rare presentation of mixed malignant germ cell tumor of the ovary with concurrent glioblastoma transformation and gliomatosis peritonei. While long-term outcomes cannot be concluded based on this case, excellent treatment response has been seen at 2.5 years, suggesting that traditional BEP therapy regiment should be considered for similar cases.

目的卵巢混合性生殖细胞瘤由两种或两种以上的生殖细胞组成，是一种罕见但具有侵袭性的妇科恶性肿瘤，多发于育龄早期妇女。文献中很少报道混合恶性生殖细胞瘤伴胶质母细胞瘤成分的病例，对于这些罕见肿瘤的最合适的化疗方案和长期预后也知之甚少。方法报告一例44岁女性卵巢混合性生殖细胞瘤，包括未成熟畸胎瘤（95%）和卵黄囊瘤（5%），并发成熟神经组织向胶质母细胞瘤转化。患者接受了初步分期手术，最终病理显示腹膜胶质瘤病。结果在神经肿瘤学的合作下，考虑到该病例的胶质母细胞瘤成分，决定不改变辅助治疗计划，因此患者接受了四个周期的博来霉素、依托泊苷和顺铂（BEP）的辅助化疗，自完成后随访了2.5年，无复发迹象。结论本病例讨论了卵巢混合性恶性生殖细胞瘤并发胶质母细胞瘤转化和腹膜胶质瘤病的罕见表现。虽然不能根据本病例得出长期结果，但在2.5年的治疗效果很好，这表明对于类似病例应考虑传统的BEP治疗方案。

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引用次数: 0

Unusual metastatic pattern of endometrial carcinoma with distal foot involvement 不寻常的转移模式子宫内膜癌远端足部累及

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-09-05 DOI: 10.1016/j.gore.2025.101938

Tessel Speelman , Suzanne Otten , Meta Tjeenk Willink , Jasper Helthuis , Natascha M. de Lange , Harm H. de Haan , Arnold-Jan Kruse

Introduction

Endometrial carcinoma typically metastasizes to the lungs, liver, and bones of the axial skeleton. Metastatic spread to the bones of the foot is exceedingly rare and may present with nonspecific musculoskeletal symptoms, often mimicking infection. Recognizing such atypical metastatic patterns is essential for timely diagnosis and management, particularly in patients with high-risk disease.

Case report

A 62-year-old woman with FIGO stage IIIB endometrioid adenocarcinoma, previously treated with surgery and radiotherapy, presented with progressive pain and swelling of the right foot. Initial clinical evaluation suggested cellulitis, and empiric antibiotics were started. Symptoms persisted, prompting further investigation. MRI demonstrated diffuse marrow abnormalities and cortical disruption in multiple tarsal bones, raising suspicion for malignancy. Biopsy confirmed metastatic endometrioid adenocarcinoma. FDG PET-CT revealed intense uptake in the foot lesion, as well as additional FDG-avid lesions in the right femur, fibula, metatarsal, and a pulmonary nodule, consistent with widespread metastatic disease.

Conclusion

Metastases to the bones of the foot from endometrial carcinoma are rare and can mimic infection. This case highlights the importance of maintaining a high index of suspicion for unusual metastatic patterns in patients with persistent musculoskeletal symptoms and a history of high-risk endometrial cancer. Timely imaging and histologic confirmation are critical for accurate diagnosis and appropriate management, especially as such presentations often indicate advanced systemic disease.

子宫内膜癌通常转移到肺、肝和中轴骨骼。转移扩散到足部骨骼是非常罕见的，可能会出现非特异性肌肉骨骼症状，通常类似感染。认识到这种非典型转移模式对于及时诊断和管理至关重要，特别是在高风险疾病患者中。病例报告：一名62岁女性FIGO IIIB期子宫内膜样腺癌，既往接受手术和放疗，表现为进行性右脚疼痛和肿胀。最初的临床评估提示蜂窝织炎，并开始使用经验性抗生素。症状持续存在，需要进一步调查。MRI显示多发性跗骨弥漫性骨髓异常及皮质破坏，怀疑为恶性肿瘤。活检证实转移性子宫内膜样腺癌。FDG PET-CT显示足部病变强烈摄取，右侧股骨、腓骨、跖骨和肺结节也有FDG强烈病变，与广泛转移性疾病一致。结论子宫内膜癌向足部骨转移的病例很少，可模拟感染。本病例强调了对持续性肌肉骨骼症状和高危子宫内膜癌病史患者异常转移模式保持高度怀疑的重要性。及时的影像学和组织学确认对于准确诊断和适当治疗至关重要，特别是当这种表现通常表明晚期全身性疾病时。

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引用次数: 0

Peutz-Jeghers syndrome in gynecological cancers: bibliometric trends, clinical insights, and future directions 妇科癌症中的Peutz-Jeghers综合征：文献计量学趋势、临床见解和未来方向

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-09-04 DOI: 10.1016/j.gore.2025.101941

Tianhui Niu, Jinghui Jia, Zhang Lei, Hongfang Wang, Guoqing Cai

Background

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder caused by germline mutations in the STK11 tumor suppressor gene. It is characterized by mucocutaneous pigmentation, gastrointestinal polyposis, and a significantly elevated risk of various malignancies. While the association between PJS and gastrointestinal cancers is well established, its relationship with gynecological malignancies, particularly gastric-type endocervical adenocarcinoma (G-EAC), remains poorly understood. The rarity and clinical heterogeneity of PJS have hindered the development of evidence-based guidelines, especially for gynecological tumors

Methods

We conducted a comprehensive bibliometric analysis of 96 English-language publications from 2010 to 2024 to map global research trends on PJS-related gynecological cancers, identifying key topics and tracing the evolution of knowledge in this field. This was complemented by a retrospective case series analysis of PJS patients diagnosed with G-EAC, integrating clinical, imaging, and pathological data to characterize their disease features.

Results

The bibliometric analysis revealed a growing research focus on STK11 molecular pathogenesis and improved surveillance strategies for PJS. Our case series of 10 PJS patients with G-EAC underscores the early onset and aggressive nature of this malignancy—all cases were HPV-negative. Clinical presentation often included watery vaginal discharge and pelvic pain, with imaging showing cervical masses and pelvic effusions. Pathological review confirmed G-EAC in six patients and atypical lobular endocervical glandular hyperplasia (aLEGH) in others, highlighting the need for heightened vigilance in monitoring PJS patients.

Conclusion

These findings emphasize the urgent need for individualized, multidisciplinary screening and management strategies for PJS-associated gynecological cancers. Improved awareness of PJS-related G-EAC is crucial for early detection. Integration of genetic counseling, advanced imaging, and molecular diagnostics into routine care for PJS patients will help optimize outcomes in this high-risk population

peutz - jeghers综合征（PJS）是一种常染色体显性遗传病，由STK11肿瘤抑制基因的种系突变引起。它的特点是皮肤粘膜色素沉着，胃肠道息肉病，各种恶性肿瘤的风险显著升高。虽然PJS与胃肠道癌症之间的关系已经确立，但其与妇科恶性肿瘤，特别是胃型宫颈内膜腺癌（G-EAC）的关系仍然知之甚少。PJS的罕见性和临床异质性阻碍了循证指南的发展，特别是对妇科肿瘤。方法对2010年至2024年96篇英文出版物进行了全面的文献计量分析，以绘制全球PJS相关妇科癌症的研究趋势，确定关键主题并追踪该领域知识的演变。通过对诊断为G-EAC的PJS患者的回顾性病例系列分析，结合临床、影像学和病理资料来描述其疾病特征。结果文献计量学分析显示，STK11分子发病机制的研究越来越多，PJS的监测策略也越来越完善。我们的10例PJS合并G-EAC的病例系列强调了这种恶性肿瘤的早发性和侵袭性——所有病例都是hpv阴性。临床表现常包括水样阴道分泌物和盆腔疼痛，影像学显示宫颈肿块和盆腔积液。病理检查证实6例患者为G-EAC，其余患者为非典型小叶颈内腺增生（aLEGH），强调需要提高对PJS患者的警惕。结论迫切需要针对pjs相关妇科肿瘤开展个体化、多学科筛查和治疗策略。提高对pjs相关G-EAC的认识对于早期发现至关重要。将遗传咨询、先进成像和分子诊断整合到PJS患者的常规护理中，将有助于优化这一高危人群的预后

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引用次数: 0

Embryonal rhabdomyosarcoma of the uterine corpus in a postmenopausal Woman: A case report and literature Review 绝经后妇女子宫体胚胎性横纹肌肉瘤1例报告及文献复习

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-09-04 DOI: 10.1016/j.gore.2025.101937

Misako Omuro , Yuichi Imai , Yuki Ogawara , Taichi Mizushima , Erika Muraoka , Shoji Yamanaka , Satoshi Fujii , Etsuko Miyagi

Background

Rhabdomyosarcoma (RMS) is a rare malignant mesenchymal tumor, primarily affecting children. Occurrence in the uterine corpus of adults, particularly postmenopausal women, is extremely uncommon.

Case Presentation

A 60-year-old postmenopausal nulligravid woman presented with abnormal genital bleeding for three months. Pelvic examination revealed a friable mass extending from the uterine corpus. Biopsy confirmed embryonal RMS. She underwent modified radical hysterectomy with bilateral salpingo-oophorectomy for complete surgical resection. One cycle of adjuvant VAC chemotherapy (vincristine, actinomycin D, and cyclophosphamide) was administered but discontinued at her request. No residual disease was observed postoperatively, and she remains disease-free 12 months after surgery.

Conclusion

Adult-onset uterine corpus embryonal RMS is rare, and standardized treatment protocols are lacking. Early diagnosis, complete surgical resection, and individualized therapy are essential. A literature review highlights clinical characteristics, treatment strategies, and prognostic considerations.

背景：habdomyosarcoma （RMS）是一种罕见的恶性间质肿瘤，主要影响儿童。发生在成人子宫体，特别是绝经后妇女，是非常罕见的。病例介绍一名60岁绝经后无妊娠妇女，表现为生殖器异常出血3个月。盆腔检查发现一个易碎的肿块从子宫体延伸出来。活检证实胚胎性RMS。她接受改良根治性子宫切除术和双侧输卵管卵巢切除术以完成手术切除。给予一个周期的辅助VAC化疗（长春新碱、放线菌素D和环磷酰胺），但在她的要求下停止。术后未见残留病变，术后12个月无病变。结论成人发病的子宫体胚胎性RMS较为罕见，缺乏规范的治疗方案。早期诊断，完全手术切除和个体化治疗是必不可少的。文献回顾强调临床特点，治疗策略和预后考虑。

{"title":"Embryonal rhabdomyosarcoma of the uterine corpus in a postmenopausal Woman: A case report and literature Review","authors":"Misako Omuro , Yuichi Imai , Yuki Ogawara , Taichi Mizushima , Erika Muraoka , Shoji Yamanaka , Satoshi Fujii , Etsuko Miyagi","doi":"10.1016/j.gore.2025.101937","DOIUrl":"10.1016/j.gore.2025.101937","url":null,"abstract":"<div><h3>Background</h3><div>Rhabdomyosarcoma (RMS) is a rare malignant mesenchymal tumor, primarily affecting children. Occurrence in the uterine corpus of adults, particularly postmenopausal women, is extremely uncommon.</div></div><div><h3>Case Presentation</h3><div>A 60-year-old postmenopausal nulligravid woman presented with abnormal genital bleeding for three months. Pelvic examination revealed a friable mass extending from the uterine corpus. Biopsy confirmed embryonal RMS. She underwent modified radical hysterectomy with bilateral salpingo-oophorectomy for complete surgical resection. One cycle of adjuvant VAC chemotherapy (vincristine, actinomycin D, and cyclophosphamide) was administered but discontinued at her request. No residual disease was observed postoperatively, and she remains disease-free 12 months after surgery.</div></div><div><h3>Conclusion</h3><div>Adult-onset uterine corpus embryonal RMS is rare, and standardized treatment protocols are lacking. Early diagnosis, complete surgical resection, and individualized therapy are essential. A literature review highlights clinical characteristics, treatment strategies, and prognostic considerations.</div></div>","PeriodicalId":12873,"journal":{"name":"Gynecologic Oncology Reports","volume":"61 ","pages":"Article 101937"},"PeriodicalIF":1.3,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145044961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Management of significant pleural effusion at ovarian cancer diagnosis: Outcomes of triage to neoadjuvant chemotherapy without thoracic assessment 卵巢癌诊断时明显胸腔积液的处理：未经胸部评估的新辅助化疗的分诊结果

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-09-03 DOI: 10.1016/j.gore.2025.101944

Stuart A. Ostby , Chiara Ainio , Conway Xu , Kelly H. Bruce , Matthew S. Block , William A. Cliby , Amanika Kumar , Carrie L. Langstraat

Objectives

Management of epithelial ovarian cancer presenting with moderate to large pleural effusion at first diagnosis is a clinical challenge. Several options are utilized with limited evidence including initial thoracoscopic evaluation, neoadjuvant chemotherapy (NACT) or some combination. We sought to evaluate the disease course and patterns of recurrence after triage to NACT.

Methods

We included all clinical Stage IVA patients having moderate to large pleural effusions without radiologic evidence of a Stage IVB metastasis presenting to our institution between 2016 and 2021. Clinical outcomes and patterns of recurrence were evaluated using descriptive statistics and Kaplan-Meier curves.

Results

There were 31 patients (7.5 % of new ovarian cancer cases) who met inclusion criteria with median age 68.0 years. Most had high grade serous histology (29; 93.5 %) and 3/27 (11.1 %) were BRCA positive. Factors influencing triage to NACT were effusion alone in 3 (9.7 %) patients whereas 14/31 (45.2 %) had ≥2 factors. Resolution of the effusion occurred after NACT alone in 23 (74.2 %). Eight patients never proceeded to surgery. Complete gross resection (CGR) of abdominal disease at interval debulking surgery (IDS) was achieved in 14/23 (60.9 %), residual disease (RD) ≤1 cm in 8/23 (34.8 %) and >1 cm in 1/23 (4.3 %). Chemotherapy response scores were available for 19/23 cases and did not correlate with survival. After IDS, all patients received adjuvant platinum-based chemotherapy for a median of 3 cycles and 4 patients received maintenance therapy (PARP inhibitor in 4, bevacizumab in 1). Median OS for the whole cohort was 30.5 months: 3-year OS was 0 % if no surgery (8 patients), 27.8 % if any visible disease after IDS (9 patients), and 71.4 % if CGR (5-year OS 64.3 %). Recurrence or progression occurred in 30/31 distributed as follows: abdomen alone (16/30, 53.3 %) versus abdomen and thorax (13/30, 41.9 %). Only 1 patient recurred in the thorax alone.

Conclusions

Limited evidence directs the best management for patients presenting with clinical Stage IVA disease. Our data represent a particularly high-risk subgroup which may be characteristic of patients with large pleural effusions and adds important information showing that approximately half of these patients have ≥2 indications to favor NACT, signifying their high-risk status. Despite this, when CGR in the abdomen was achieved at IDS, median OS was greater than 5 years.

目的上皮性卵巢癌首次诊断时表现为中度至大量胸腔积液的处理是一项临床挑战。在证据有限的情况下，使用了几种选择，包括最初的胸腔镜评估，新辅助化疗（NACT）或一些组合。我们试图评估NACT治疗后的病程和复发模式。方法：我们纳入了2016年至2021年期间在我院就诊的所有临床IVA期患者，均有中度至大量胸腔积液，且无IVB期转移的影像学证据。使用描述性统计和Kaplan-Meier曲线评估临床结果和复发模式。结果31例（占新发卵巢癌病例的7.5%）符合纳入标准，中位年龄68.0岁。大多数患者的浆液组织学为高分级（29例，93.5%），3/27 (11.1%)BRCA阳性。3例（9.7%）患者仅为积液，而14/31例（45.2%）患者的因素≥2个。23例（74.2%）仅行NACT治疗后积液得以消除。8名患者没有进行手术。间歇减容手术（IDS）中，14/23（60.9%）实现了腹部疾病的完全切除（CGR）， 8/23（34.8%）和1/23（4.3%）中残余病变(RD)≤1 cm。化疗反应评分为19/23例，与生存率无关。IDS后，所有患者接受辅助铂类化疗，中位数为3个周期，4例患者接受维持治疗（PARP抑制剂4例，贝伐单抗1例）。整个队列的中位OS为30.5个月：如果没有手术（8例），3年OS为0%，如果IDS后有任何可见疾病（9例），3年OS为27.8%，CGR为71.4%（5年OS为64.3%）。30/31的复发或进展分布如下：单独腹部（16/30,53.3%）与腹部和胸部（13/30,41.9%）。仅1例患者在胸部复发。结论有限的证据指导临床IVA期患者的最佳治疗。我们的数据代表了一个特别高风险的亚组，这可能是大量胸腔积液患者的特征，并增加了重要的信息，表明大约一半的患者有≥2个适应症，有利于NACT，这表明他们的高风险状态。尽管如此，当IDS在腹部实现CGR时，中位OS大于5年。

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引用次数: 0

Landscape of genomic alterations and clinical outcomes in low-grade serous ovarian cancer in Korea 韩国低级别浆液性卵巢癌的基因组改变和临床结果

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-09-01 DOI: 10.1016/j.gore.2025.101934

Yu-Seon Shim , Ji Hyun Kim , Sang-soo Seo , Sokbom Kang , Sang-Yoon Park , Myong Cheol Lim

Introduction

To investigate the clinical characteristics, molecular findings, and survival outcomes of patients with low-grade serous ovarian cancer in Korea, with a focus on addressing the limited data on genetic profiling and targeted therapies in Asian populations.

Methods

This study is a retrospective review of patients with pathologically confirmed LGSOC treated at the National Cancer Center Korea between 2010 and 2023. Patients underwent cytoreductive surgery and/or systemic or hormonal therapy. Molecular profiling included next-generation sequencing (NGS) of formalin-fixed, paraffin-embedded tumor samples and homologous recombination deficiency (HRD) testing. Survival outcomes were assessed using Kaplan–Meier analysis.

Results

A total of 62 patients were included, with a median age of 41 years; 61.3 % presented with advanced-stage disease. BRCA mutations were detected in 6.4 % (BRCA1: 4.8 %, BRCA2: 1.6 %). MAPK pathway alterations were identified in KRAS (11.3 %), BRAF (9.7 %), NF1 (3.7 %), and NRAS (1.2 %). Among BRAF mutations, 66.7 % were V600E, while KRAS mutations predominantly involved codon 12. ER and PR were positive in 88.7 % and 66.1 % of cases, respectively. With a median follow-up of 47.5 months, the median progression-free survival (PFS) was 169.3 months (95 % CI: 60.6–NA).

Conclusion

This study identifies frequent MAPK pathway mutations, including KRAS and BRAF, and a prevalence of BRCA1/2 mutations in low-grade serous ovarian cancer. Compared to Western cohorts, KRAS and BRAF mutations were observed at relatively lower frequencies, highlighting potential regional differences in the molecular landscape of low-grade serous ovarian cancer.

研究韩国低级别浆液性卵巢癌患者的临床特征、分子发现和生存结果，重点解决亚洲人群遗传谱和靶向治疗方面的有限数据。方法：本研究是对2010年至2023年在韩国国立癌症中心治疗的病理证实的LGSOC患者的回顾性研究。患者接受细胞减少手术和/或全身或激素治疗。分子分析包括福尔马林固定、石蜡包埋肿瘤样本的下一代测序（NGS）和同源重组缺陷（HRD）检测。使用Kaplan-Meier分析评估生存结果。结果共纳入62例患者，中位年龄41岁；61.3%为晚期疾病。BRCA突变占6.4% （BRCA1: 4.8%, BRCA2: 1.6%）。MAPK通路改变在KRAS（11.3%）、BRAF（9.7%）、NF1（3.7%）和NRAS（1.2%）中被发现。BRAF突变中V600E占66.7%，KRAS突变主要涉及密码子12。ER和PR阳性率分别为88.7%和66.1%。中位随访47.5个月，中位无进展生存期（PFS）为169.3个月（95% CI: 60.6-NA）。本研究确定了MAPK通路的频繁突变，包括KRAS和BRAF，以及BRCA1/2突变在低级别浆液性卵巢癌中的患病率。与西方队列相比，KRAS和BRAF突变的频率相对较低，突出了低级别浆液性卵巢癌分子格局的潜在区域差异。

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引用次数: 0

Severe hemorrhage in choriocarcinoma: three scenarios and treatment strategies 绒毛膜癌严重出血：三种情况及治疗策略

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-09-01 DOI: 10.1016/j.gore.2025.101930

J. Altmann, D. Dimitrova, J. Sehouli

Introduction

Massive hemorrhage originating from the primary tumor site or metastases is a feared complication of choriocarcinoma. We present three cases of severe hemorrhage in patients with gestational choriocarcinoma and their clinical management.

Case series

The first case is a 27-year old woman, who presented with acute hepatic hemorrhage due to metastases of choriocarcinoma 5 months after the birth of her first child. After abdominal packing via laparotomy and transfer of the patient in stable condition to our intensive care unit embolization of several hepatic arteries was performed by interventional angiography. The second case, a 28-year old primipara, presented with hemoperitoneum as a result of uterus perforation by choriocarcinoma. Surgical sutures of the perforated lesion were applied via laparotomy, preserving the uterus. The third case is a 28-year old primigravida with massive vaginal hemorrhage of a choriocarcinoma with pulmonary metastases. Stabilization of the bleeding was achieved by embolization of uterine arteries.

All patients were classified as high-risk (FIGO classification) gestational choriocarcinoma and received EMA/CO chemotherapy until ßHCG reached normal levels as well as up to three additional cycles as consolidation. To date, all patients are in remission.

Conclusion

In case of severe hemorrhage in patients with choriocarcinoma a skilled interdisciplinary team is needed. In case of acute hemorrhage in choriocarcinoma embolization of arteries should be preferred since these are safe and effective measures. In the vast majority of cases fertility-preserving strategies can safely be applied. Hysterectomy is not recommended as first-line treatment.

起源于原发肿瘤部位或转移的大出血是绒毛膜癌的一种可怕的并发症。我们报告三例妊娠期绒毛膜癌患者严重出血及其临床处理。病例系列第一个病例是一名27岁的妇女，她在生下第一个孩子5个月后出现绒毛膜癌转移引起的急性肝出血。经剖腹填塞并将病情稳定的患者转至重症监护室后，通过介入血管造影对几条肝动脉进行栓塞。第二个病例，28岁初产妇，由于绒毛膜癌导致子宫穿孔而出现腹膜出血。经剖腹手术缝合穿孔病变，保留子宫。第三例患者为28岁原发女性，绒毛膜癌并发大量阴道出血，并有肺转移。出血稳定是通过栓塞子宫动脉。所有患者均被归类为高危妊娠绒毛膜癌（FIGO分类），并接受EMA/CO化疗，直到hcg达到正常水平，并再进行最多3个周期的巩固治疗。到目前为止，所有患者的病情都得到了缓解。结论绒毛膜癌合并大出血患者需要一支熟练的跨学科团队。在绒毛膜癌急性出血的情况下，首选动脉栓塞，因为这是安全有效的措施。在绝大多数情况下，可以安全地采用保持生育能力的策略。子宫切除术不建议作为一线治疗。

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引用次数: 0

Malignant Brenner tumor with extensive clear cell features: A valuable diagnostic lesson learned from molecular tumor profiling and AI-based tumor differential tool 具有广泛透明细胞特征的恶性勃勒纳瘤：从分子肿瘤谱和基于人工智能的肿瘤鉴别工具中获得的宝贵诊断经验

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-08-29 DOI: 10.1016/j.gore.2025.101939

John A Steinharter , Corinne Jansen , Hassan Ghani , Apsra Nasir , Marzia Capelletti , Ashley Stuckey , M.Ruhul Quddus , Yun-An Tseng

Background

Malignant Brenner tumor (MBT) with extensive clear cell features mimicking an ovarian clear cell carcinoma (CCC) is exceedingly rare. This case report discusses the diagnostic challenges associated with this unusual histologic finding and highlights the value of molecular tumor profiling and artificial intelligence (AI)-based tools in tumor diagnostics.

Case Summary

A 55-year-old woman presented with a 17.7 cm complex left ovarian mass, which was initially diagnosed as ovarian clear cell carcinoma on the frozen and permanent H&E sections. The subsequent next-generation sequencing (NGS) and an AI-based tumor differential tool predicted an 88 % match of urothelial origin for the ovarian tumor driven by strong expression of GATA3, uroplakin 2, and AMACR, while assigning 0 % match to ovarian CCC. The molecular and histologic discordance prompted pathologic re-evaluation. On the additional sections submitted from the ovarian tumor, a small component of benign Brenner tumor was identified adjacent to the tumor with extensive clear cell features. In addition, both the tumor cells exhibiting clear cell features and the benign Brenner tumor showed positive expression of urothelial markers by immunohistochemistry. The diagnosis was amended to MBT with extensive clear cell features. The NGS data was reviewed and showed the ovarian tumor harbored CDKN2A/B loss and a molecular triple phenotype (MDM2 amplification/TP53 wild-type/TERT wild-type), supporting the diagnosis of MBT and disfavoring metastatic urothelial carcinoma.

Conclusion

MBT should be considered in the differential diagnosis of ovarian neoplasms with clear cell features. Extensive tumor sampling combined with careful evaluation of the histologic and immunohistochemical features and molecular analysis is the key to accurate diagnosis. AI-based tumor differential tools are valuable adjuncts to tumor diagnostics when investigated with other pathological and clinical findings.

恶性勃勒纳瘤（MBT）具有广泛的类似卵巢透明细胞癌（CCC）的透明细胞特征是非常罕见的。本病例报告讨论了与这种不寻常的组织学发现相关的诊断挑战，并强调了分子肿瘤分析和基于人工智能（AI）的肿瘤诊断工具的价值。病例总结：一名55岁女性，左侧卵巢出现17.7 cm复杂肿块，经冷冻和永久H&；E切片初步诊断为卵巢透明细胞癌。随后的下一代测序（NGS）和基于人工智能的肿瘤鉴别工具预测，由GATA3、uroplakin 2和AMACR的强表达驱动的卵巢肿瘤的尿路上皮起源匹配率为88%，而卵巢CCC的匹配率为0%。分子和组织学上的不一致促使病理重新评估。在提交的卵巢肿瘤的附加切片上，发现良性勃勒纳瘤的一小部分与肿瘤相邻，具有广泛的透明细胞特征。此外，具有清晰细胞特征的肿瘤细胞和良性勃勒纳瘤的免疫组化均显示尿路上皮标志物的阳性表达。诊断修改为MBT，具有广泛的透明细胞特征。回顾NGS数据，发现卵巢肿瘤具有CDKN2A/B缺失和分子三重表型（MDM2扩增/TP53野生型/TERT野生型），支持MBT的诊断，不利于转移性尿路上皮癌。结论对具有透明细胞特征的卵巢肿瘤应考虑mbt的鉴别诊断。广泛的肿瘤取样结合仔细的组织学和免疫组织化学特征评估和分子分析是准确诊断的关键。当与其他病理和临床结果一起调查时，基于人工智能的肿瘤鉴别工具是肿瘤诊断的有价值的辅助工具。

{"title":"Malignant Brenner tumor with extensive clear cell features: A valuable diagnostic lesson learned from molecular tumor profiling and AI-based tumor differential tool","authors":"John A Steinharter , Corinne Jansen , Hassan Ghani , Apsra Nasir , Marzia Capelletti , Ashley Stuckey , M.Ruhul Quddus , Yun-An Tseng","doi":"10.1016/j.gore.2025.101939","DOIUrl":"10.1016/j.gore.2025.101939","url":null,"abstract":"<div><h3>Background</h3><div>Malignant Brenner tumor (MBT) with extensive clear cell features mimicking an ovarian clear cell carcinoma (CCC) is exceedingly rare. This case report discusses the diagnostic challenges associated with this unusual histologic finding and highlights the value of molecular tumor profiling and artificial intelligence (AI)-based tools in tumor diagnostics.</div></div><div><h3>Case Summary</h3><div>A 55-year-old woman presented with a 17.7 cm complex left ovarian mass, which was initially diagnosed as ovarian clear cell carcinoma on the frozen and permanent H&E sections. The subsequent next-generation sequencing (NGS) and an AI-based tumor differential tool predicted an 88 % match of urothelial origin for the ovarian tumor driven by strong expression of GATA3, uroplakin 2, and AMACR, while assigning 0 % match to ovarian CCC. The molecular and histologic discordance prompted pathologic re-evaluation. On the additional sections submitted from the ovarian tumor, a small component of benign Brenner tumor was identified adjacent to the tumor with extensive clear cell features. In addition, both the tumor cells exhibiting clear cell features and the benign Brenner tumor showed positive expression of urothelial markers by immunohistochemistry. The diagnosis was amended to MBT with extensive clear cell features. The NGS data was reviewed and showed the ovarian tumor harbored CDKN2A/B loss and a molecular triple phenotype (MDM2 amplification/TP53 wild-type/TERT wild-type), supporting the diagnosis of MBT and disfavoring metastatic urothelial carcinoma.</div></div><div><h3>Conclusion</h3><div>MBT should be considered in the differential diagnosis of ovarian neoplasms with clear cell features. Extensive tumor sampling combined with careful evaluation of the histologic and immunohistochemical features and molecular analysis is the key to accurate diagnosis. AI-based tumor differential tools are valuable adjuncts to tumor diagnostics when investigated with other pathological and clinical findings.</div></div>","PeriodicalId":12873,"journal":{"name":"Gynecologic Oncology Reports","volume":"61 ","pages":"Article 101939"},"PeriodicalIF":1.3,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144996724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Implementation of a stepwise process for somatic testing in patients with a new diagnosis of germline negative epithelial ovarian cancer 对新诊断为种系阴性上皮性卵巢癌的患者实施分步体细胞检测

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports

Pub Date : 2025-08-28 DOI: 10.1016/j.gore.2025.101935

Casey L. Lawler , Sara M. Klennert , Kristin C. Cole , Karen S. Schaepe , Laura J. Ongie , Megan E. Grudem , Carolyn M. Klampe , Myra J. Wick , Vonda M. Wall , Sanjna Rajput , Clarissa L. Polen-De , Amanika Kumar

Objective

We sought to establish a process for increasing somatic tumor testing for patients with germline BRCA negative advanced stage epithelial ovarian cancer (EOC) and to gain insight into patients’ comprehension of their genetic testing.

Methods

A multidisciplinary team utilized quality improvement framework to address clinical needs. After implementation of a new somatic testing process, we compared the rates of genetic testing referral, germline testing and somatic testing recommendations between a historic cohort (January 1, 2019-June 20, 2019) and implementation cohort (October 1, 2020 – March 31, 2021). Patients diagnosed with stage III-IV EOC who underwent surgery were included for analysis. To explore patients’ comprehension of their genetic testing results, twenty-three patients in the historic cohort participated in semi-structured interviews.

Results

Patients with advanced stage EOC without a germline BRCA mutation received recommendations for somatic testing 53.5 % (23/43) of the time in the historic cohort. An improvement in the rate of somatic testing recommendations was seen in patients without a germline mutation in the implementation cohort (84.6 % [22/26], P = 0.010). There was no decrease in germline testing after implementation (90 % [63/70] and 96.3 % [52/54,] P = 0.30). Most patients (21/23) in the historic cohort were not aware that both germline and somatic testing were completed for their oncology care.

Conclusion

We successfully increased somatic testing recommendations in germline BRCA negative patients prior to completing upfront EOC treatment allowing for a timely, individualized discussion of maintenance PARP inhibitor use. Qualitative assessment of patients’ comprehension of genetic testing for EOC shows a deficit in patient knowledge.

目的：我们试图建立一个增加生殖系BRCA阴性晚期上皮性卵巢癌（EOC）患者体细胞肿瘤检测的过程，并深入了解患者对其基因检测的理解。方法多学科团队运用质量改进框架解决临床需求。在实施新的体细胞检测流程后，我们比较了历史队列（2019年1月1日- 2019年6月20日）和实施队列（2020年10月1日- 2021年3月31日）之间的基因检测转诊率、种系检测和体细胞检测推荐率。诊断为III-IV期EOC并接受手术的患者纳入分析。为了探索患者对其基因检测结果的理解，历史队列中的23名患者参加了半结构化访谈。在历史队列中，无种系BRCA突变的晚期EOC患者推荐进行体细胞检测的比例为53.5%（23/43）。在实施队列中，无种系突变的患者推荐进行体细胞检测的比率有所提高（84.6% [22/26],P = 0.010）。实施后生殖系检测未见下降（分别为90%[63/70]和96.3% [52/54],P = 0.30）。历史队列中的大多数患者（21/23）不知道在他们的肿瘤治疗中完成了种系和体细胞检测。结论：我们成功地增加了生殖系BRCA阴性患者在完成前期EOC治疗之前的体细胞检测建议，从而及时、个性化地讨论维持PARP抑制剂的使用。对患者对EOC基因检测理解程度的定性评估显示患者知识不足。

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引用次数: 0