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Papillary thyroid carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma: When to suspect and how to diagnose 甲状腺乳头状癌合并纤维瘤病/筋膜炎样/硬纤维瘤样间质:何时怀疑及如何诊断
Q4 Medicine Pub Date : 2025-04-19 DOI: 10.1016/j.patol.2025.100819
Judith González-López, Luis Rubio-Martínez, Carlos Zac-Romero, Mireya Prieto-Rodríguez, Nuria Mancheño-Franch
Currently, it is known that more than 60% of adults have one or more thyroid nodules, of which less than 5% are malignant. Among them, papillary thyroid carcinoma (PTC) is the most common thyroid malignancy, accounting for 90% of all thyroid carcinomas. The World Health Organization (WHO) 5th edition endocrine tumours classification includes several PTC subtypes. Of these, PTC with fibromatosis/fasciitis-like/desmoid-type stroma stands out not only for being one of the least frequent subtypes but also for its characteristic histology (biphasic structure) and genetic pattern, which presents mutations in both BRAF and CTNNB1. Despite these distinctive features, it remains a challenging neoplasm to suspect and easy to misdiagnose, primarily due to its radiological imaging and cytological findings. In this study, we report a classic case, review the literature, discuss when suspicion should arise, and provide a practical diagnostic guide.
目前,已知超过60%的成年人有一个或多个甲状腺结节,其中不到5%是恶性的。其中,甲状腺乳头状癌(PTC)是最常见的甲状腺恶性肿瘤,占所有甲状腺癌的90%。世界卫生组织(WHO)第5版内分泌肿瘤分类包括几种PTC亚型。其中,伴有纤维瘤病/筋膜炎样/硬纤维瘤样间质的PTC不仅是最不常见的亚型之一,而且其特有的组织学(双相结构)和遗传模式也很突出,在BRAF和CTNNB1中都存在突变。尽管有这些独特的特征,它仍然是一种难以怀疑和容易误诊的肿瘤,主要是由于其放射学成像和细胞学发现。在本研究中,我们报告一个经典病例,回顾文献,讨论何时应该怀疑,并提供实用的诊断指南。
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引用次数: 0
Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back 多学科方法达到胎儿诊断沃克-沃堡综合征:从尸检到遗传学和背部
Q4 Medicine Pub Date : 2025-04-18 DOI: 10.1016/j.patol.2025.100827
Anna Sifre-Ruiz , Cristina Esquina-Rodriguez , Africa Manero-Azua , Iñigo Gorostiaga , Guiomar Perez de Nanclares
The diagnosis of central nervous system anomalies is a challenge for pathologists, especially in the context of stillbirth. A multidisciplinary approach including gestational data, ultrasound, and genetic tests not only increases diagnostic efficacy, but also enhances the quality of care provided to families. We report the case of a legal termination of pregnancy due to encephalic malformation in a couple with a previous history of multiple miscarriages. The initial foetal autopsy guided the genetic tests, leading to the identification of a pathogenic variant responsible for Walker-Warburg syndrome – an infrequent and relatively unknown syndromic complex. By using a reverse phenotyping strategy, it was possible not only to confirm the diagnosis suggested by the genetic tests in the foetus, but also to identify the same genetic alteration in a previous miscarriage. This provided an unidentified diagnosis and enabled the provision of genetic counselling to the couple.
中枢神经系统异常的诊断对病理学家来说是一个挑战,特别是在死产的背景下。包括妊娠数据、超声和基因检测在内的多学科方法不仅提高了诊断效率,而且提高了向家庭提供的护理质量。我们报告的情况下,合法终止妊娠由于脑畸形在一对夫妇与以往的多次流产的历史。最初的胎儿解剖指导了基因测试,最终确定了导致Walker-Warburg综合征(一种罕见且相对未知的综合征)的致病变异。通过使用反向表型策略,不仅可以确认胎儿基因测试提出的诊断,还可以在以前的流产中确定相同的遗传改变。这提供了一个未知的诊断,并为这对夫妇提供了遗传咨询。
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引用次数: 0
Pathological insights into small cell osteosarcoma: A rare case report highlighting diagnostic approaches with a literature review 病理洞察小细胞骨肉瘤:一个罕见的病例报告强调诊断方法与文献回顾
Q4 Medicine Pub Date : 2025-04-18 DOI: 10.1016/j.patol.2025.100822
Bhaskar Narayan, Kuldeep Singh, Jeyaseelan Augustine, Aadithya B. Urs
Small cell osteosarcoma (SCOS) is an uncommon variant of osteosarcoma, typically affecting young adults. This case report presents an unusual case of a 35-year-old individual who presented with a growth in the mandible. Microscopically, the lesion was characterised by sheets and plexuses of atypical small round cells with minimal osteoid formation. PAS positivity in the tumour osteoid and SATB2 immunopositive tumour cells led to diagnosis of SCOS.
小细胞骨肉瘤(SCOS)是一种罕见的骨肉瘤,通常影响年轻人。本病例报告提出了一个不寻常的情况下,35岁的个人谁提出了一个增长在下颌骨。显微镜下,病变表现为片状和丛状的非典型小圆形细胞,伴有少量的类骨形成。肿瘤类骨细胞PAS阳性和SATB2免疫阳性可诊断为SCOS。
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引用次数: 0
Bilateral primary ovarian clear cell carcinoma in a multiparous perimenopausal woman 多产围绝经期妇女双侧原发性卵巢透明细胞癌1例
Q4 Medicine Pub Date : 2025-04-18 DOI: 10.1016/j.patol.2025.100823
Adil Aziz Khan, Neeti Nagar, Charanjeet Ahluwalia, Sana Ahuja
Primary ovarian clear cell carcinoma (OCCC) is a rare subtype of epithelial ovarian carcinoma (EOC), accounting for 5–10% of EOCs in the U.S., with a higher prevalence in East Asia. It is characterized by clear cells forming solid, tubular, or papillary patterns, and presents diagnostic challenges due to its resemblance to renal clear cell carcinomas. Typically affecting nulliparous postmenopausal women, OCCC is associated with high recurrence rates and low sensitivity to platinum-based chemotherapy. We report a case of bilateral primary OCCC in a 45-year-old multiparous woman with no history of endometriosis. She presented with lower abdominal pain and swelling persisting for 7–8 months. Imaging revealed a large, heterogeneous abdominopelvic mass. Surgery included total abdominal hysterectomy with bilateral salpingo-oophorectomy. Histopathological and immunohistochemical analyses confirmed bilateral OCCC, with positive staining for AMACR, Napsin A, and PAX8, and negative results for WT1, ER, and PR. This case highlights the importance of thorough diagnostic evaluation in atypical presentations. The postoperative course was uneventful, and she subsequently received adjuvant therapy.
原发性卵巢透明细胞癌(OCCC)是一种罕见的上皮性卵巢癌(EOC)亚型,在美国占EOC的5-10%,在东亚发病率较高。它的特征是透明细胞形成实状、管状或乳头状模式,由于其与肾透明细胞癌相似,因此具有诊断挑战性。OCCC通常影响未生育的绝经后妇女,与高复发率和对铂类化疗的低敏感性相关。我们报告一例双侧原发性OCCC在一个45岁的多胎妇女没有子宫内膜异位症的历史。患者表现为下腹疼痛和肿胀,持续7-8个月。影像学显示一个大的、不均匀的腹部骨盆肿块。手术包括全腹子宫切除术和双侧输卵管卵巢切除术。组织病理学和免疫组织化学分析证实双侧OCCC, AMACR、Napsin A和PAX8染色阳性,WT1、ER和PR阴性。该病例强调了对非典型表现进行彻底诊断评估的重要性。术后过程顺利,她随后接受了辅助治疗。
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引用次数: 0
External quality assessment for EGFR exon 20 mutation testing in patients with non-small cell lung cancer in Spain 西班牙非小细胞肺癌患者EGFR外显子20突变检测的外部质量评估
Q4 Medicine Pub Date : 2025-04-17 DOI: 10.1016/j.patol.2025.100824
Michele Biscuola , Ana Belén Enguita , Yolanda Ruano , Lourdes Gómez , Teresa Hernández-Iglesias , Antonio Martínez , Santiago Ramón y Cajal , José Luis Rodríguez Peralto

Introduction and aim

Non-small cell lung cancer (NSCLC) can arise from insertions in exon 20 of the EGFR gene, among other alterations. We carried out an external quality assessment (EQA) to evaluate the accuracy of laboratory methods and to highlight the importance of detecting and identifying genetic alterations, such as EGFR exon 20 insertion, in patients with NSCLC.

Materials and methods

The 2021 EGRF exon 20 EQA program consisted of two rounds, in which four formalin-fixed paraffin-embedded specimens (round 1: two positive for EGFR exon 20 insertions/duplications, one positive for a common EGFR alteration, and one wild-type; round 2: three positive for EGFR exon 20 insertions/duplications and one wild-type) obtained from patients with NSCLC were tested.

Results

Approximately 80% of the invited laboratories participated in each round. The most common DNA isolation techniques used were the cobas® DNA Sample Preparation Kit (46.7%) in round 1 and QIAamp (37.1%) in round 2. The most frequently used genotyping method in both rounds was the cobas® EGFR Mutation Test (round 1: 53.3%; round 2: 37.1%). In both rounds, 71.1% and 73.6% of the tests, respectively, reported the expected result. The lowest success rate was observed in the H773delinsRY Exon 20 determination (round 1: 17.8%; round 2: 31.4%). This alteration was correctly determined only by next-generation sequencing.

Conclusions

The variability in the genotyping methods and the success rate obtained in our study highlight the importance of EQA in Spain to ensure high performance.
非小细胞肺癌(NSCLC)可由EGFR基因外显子20的插入和其他改变引起。我们进行了一项外部质量评估(EQA)来评估实验室方法的准确性,并强调检测和识别遗传改变的重要性,如EGFR外显子20插入,在NSCLC患者中。材料和方法2021年EGRF外显子20 EQA项目由两轮组成,其中四个福尔马林固定石蜡包埋标本(第一轮:两个为EGFR外显子20插入/重复阳性,一个为普通EGFR改变阳性,一个为野生型;第2轮:检测了从NSCLC患者中获得的3个EGFR外显子20阳性插入/重复和1个野生型。结果每轮约有80%的受邀实验室参与。最常用的DNA分离技术是cobas®DNA样品制备试剂盒(46.7%)和QIAamp(37.1%)。两轮中最常用的基因分型方法是cobas®EGFR突变试验(第1轮:53.3%;第二轮:37.1%)。在这两轮测试中,分别有71.1%和73.6%的测试报告了预期结果。H773delinsRY外显子20检测的成功率最低(第1轮:17.8%;第二轮:31.4%)。这种改变只有通过下一代测序才能正确确定。结论本研究中基因分型方法和成功率的差异突出了EQA在西班牙确保高效的重要性。
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引用次数: 0
Synchronous adenocarcinoma of the endometrium and colon in a woman with Lynch syndrome associated with a mutation of the MSH6 gene Lynch综合征女性与MSH6基因突变相关的子宫内膜和结肠同步腺癌
Q4 Medicine Pub Date : 2025-04-10 DOI: 10.1016/j.patol.2025.100826
Andrés Felipe Valencia Cardona , Jhoan Sebastián Cruz Barbosa , Armando Cortés Buelvas

Introduction

Lynch syndrome (LS) is an autosomal dominant genetic condition, accounting for an estimated prevalence of 2–3% of the causes of hereditary colorectal carcinoma. In addition, it increases the risk of endometrial and ovarian cancer, among others.

Case report

A 56-year-old woman with a 6-month history of pelvic pain, dyspareunia and hypermenorrhoea. Family history: her mother died of endometrial cancer at the age of 71, and her younger brother died of gastric cancer at the age of 61. A transvaginal ultrasound revealed a 20 mm thickening of the endometrium, and the biopsy showed a FIGO 2 endometrioid carcinoma. Abdominal MRI demonstrated diffuse thickening of the rectum, while colonoscopy revealed an infiltrative, ulcerated tumour lesion in the sigmoid colon and a lesion in the rectum, consistent with invasive adenocarcinoma of the colon and adenoma with high-grade dysplasia in the rectal biopsy. Simultaneous surgical resection was indicated. A molecular panel confirmed a mutation in the MSH6 gene, confirming Lynch syndrome.

Conclusions

A rare case of Lynch syndrome associated with an MSH6 gene mutation, diagnosed with synchronous endometrial carcinoma and adenocarcinoma of the sigmoid colon.
lynch综合征(LS)是一种常染色体显性遗传病,估计占遗传性结直肠癌病因的2-3%。此外,它还会增加患子宫内膜癌和卵巢癌等疾病的风险。病例报告一名56岁女性,骨盆疼痛、性交困难和痛经6个月。家族史:母亲71岁死于子宫内膜癌,弟弟61岁死于胃癌。经阴道超声显示子宫内膜增厚20mm,活检显示FIGO 2子宫内膜样癌。腹部MRI显示直肠弥漫性增厚,结肠镜检查显示乙状结肠浸润性溃疡性肿瘤病变和直肠病变,与直肠活检中结肠浸润性腺癌和高级别不典型增生腺瘤一致。同时手术切除。一个分子小组证实了MSH6基因的突变,证实了林奇综合征。结论一例罕见的Lynch综合征合并MSH6基因突变,诊断为乙状结肠同步子宫内膜癌和腺癌。
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引用次数: 0
Multicystic peritoneal mesothelioma with floret-like multinucleated giant cells: A case report 腹膜多囊间皮瘤伴小花样多核巨细胞1例
Q4 Medicine Pub Date : 2025-04-10 DOI: 10.1016/j.patol.2025.100828
Robert Ricardo Rodríguez Carpio, Carlos Hörndler Argarate, Sandra Vicente Arregui, María Francisca Perulero Martín, Leticia Ollero Domenche
Multicystic peritoneal mesothelioma is an uncommon neoplasm characterized by multiple cysts adhering to the abdominal cavity. The symptoms are nonspecific, and their severity appears to be related to the size and location of the cysts.
We report the case of a 55-year-old man with morbid obesity in whom a multiloculated mesenteric mass was incidentally discovered on abdominal ultrasound. Complementary imaging studies revealed a multicystic peritoneal tumour with a maximum diameter of 32 cm, located in the pelvis and extending to the right hemiabdomen. Histologically, multiple cysts lined by mesothelial cells without atypia were observed, along with loose fibrous stroma containing numerous multinucleated floret-like giant cells. Based on the histopathological findings, the final diagnosis was multicystic peritoneal mesothelioma.
摘要腹膜多囊间皮瘤是一种罕见的肿瘤,其特征是腹腔内有多个囊肿。这些症状无特异性,其严重程度似乎与囊肿的大小和位置有关。我们报告的情况下,55岁的男子与病态肥胖,其中多室肠系膜肿块偶然发现腹部超声。补充影像学检查显示腹膜多囊肿瘤,最大直径32厘米,位于骨盆并延伸至右半腹部。组织学上,无异型性观察到由间皮细胞排列的多个囊肿,以及含有大量多核小花样巨细胞的疏松纤维间质。根据组织病理学结果,最终诊断为腹膜多囊间皮瘤。
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引用次数: 0
Systematic review and meta-analysis of the Papanicolaou Society of Cytopathology (PSC) system in diagnosing pancreatic lesions: Evaluating diagnostic accuracy Papanicolaou细胞病理学学会(PSC)系统诊断胰腺病变的系统回顾和荟萃分析:评估诊断准确性
Q4 Medicine Pub Date : 2025-04-09 DOI: 10.1016/j.patol.2025.100820
Sana Ahuja , Marzieh Fattahi-Darghlou , Sufian Zaheer

Introduction

The Papanicolaou system plays a vital role in cytological evaluation, particularly in the diagnosis of pancreatic lesions. However, there is a lack of comprehensive evaluation regarding its diagnostic accuracy in pancreatic fine needle aspirations (FNAs). This study seeks to address this gap by conducting a systematic review and meta-analysis to assess the diagnostic accuracy of the Papanicolaou Society of Cytopathology (PSC) system in diagnosing pancreatic lesions.

Methods

A systematic search of PubMed and EMBASE databases was conducted up to March 20, 2024, using predefined search terms related to pancreas, fine needle aspiration biopsy (FNAB), and diagnostic accuracy. The selected articles were assessed for risk of bias using the QUADAS-2 tool. A meta-analysis for sensitivity and specificity for each cut-off – namely, “Atypical considered positive”, “Neoplastic considered positive”, “Suspicious of Malignancy considered positive,” and “Malignant considered positive” – was performed after excluding inadequate samples in each study. To assess diagnostic accuracy, summary receiver operating characteristic (sROC) curves were constructed, and the diagnostic odds ratio (DOR) was pooled.

Results

Twelve studies met the inclusion criteria, comprising a total of 3604 cases. Sensitivity and specificity varied across the PSC categories, with the “Malignant” category showing the highest sensitivity (70%) and specificity (99%). The “Suspicious for malignancy and higher risk categories” demonstrated high sensitivity (81%) and specificity (97%).

Conclusion

This meta-analysis underscores the accuracy of the PSC system in reporting pancreatic aspirates. It highlights the significance of the “Suspicious” and “Malignant” categories in diagnosing malignancy, as well as the “Benign” and “Atypical” categories in ruling out malignancy.
Papanicolaou系统在细胞学评估中起着至关重要的作用,特别是在胰腺病变的诊断中。然而,缺乏对其在胰腺细针穿刺(FNAs)诊断准确性的全面评估。本研究旨在通过进行系统回顾和荟萃分析来评估Papanicolaou细胞病理学会(PSC)系统在诊断胰腺病变方面的诊断准确性,从而解决这一差距。方法系统检索PubMed和EMBASE数据库,检索时间截止到2024年3月20日,检索词为胰腺、细针穿刺活检(fine needle biopsy, FNAB)和诊断准确性。使用QUADAS-2工具评估入选文章的偏倚风险。在排除每项研究中不足的样本后,对每个截止点的敏感性和特异性进行荟萃分析,即“非典型认为阳性”、“肿瘤认为阳性”、“可疑恶性肿瘤认为阳性”和“恶性肿瘤认为阳性”。为了评估诊断的准确性,我们构建了总受试者工作特征(sROC)曲线,并汇总了诊断优势比(DOR)。结果12项研究符合纳入标准,共计3604例。不同PSC类别的敏感性和特异性各不相同,其中“恶性”类别的敏感性(70%)和特异性(99%)最高。“怀疑为恶性及高危类别”表现出较高的敏感性(81%)和特异性(97%)。结论:本荟萃分析强调了PSC系统报告胰腺抽吸的准确性。强调了“可疑”和“恶性”分类在诊断恶性肿瘤中的意义,以及“良性”和“非典型”分类在排除恶性肿瘤中的意义。
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引用次数: 0
Pulmonary angiostrongyliasis: Two cases of atypical manifestations of Angiostrongylus costaricensis in Guatemala 肺管圆线虫病:两例非典型表现的管圆线虫在危地马拉
Q4 Medicine Pub Date : 2025-04-08 DOI: 10.1016/j.patol.2025.100821
Juan Carlos Santis-Mejía, Roberto Orozco, Victor Argueta
Angiostrongyliasis, an infection caused by nematodes of the genus Angiostrongylus spp., includes nine species in the Americas. Angiostrongylus costaricensis induces eosinophilic enteritis in humans and has been documented in Guatemala. Humans are considered accidental or final hosts of A. costaricensis, as they do not release eggs or larvae in their faeces.
Most reported cases present with abdominal angiostrongyliasis (AA). Parasitic structures are difficult to identify in inflammatory lesions and larvae can occasionally migrate to extraintestinal organs. The gold standard for diagnosing A. costaricensis is histopathological analysis, confirmed by the identification of eggs, larvae in tissues, and/or adult worms in the vascular lumen.
In our department, two cases of A. costaricensis affecting pulmonary vessels were diagnosed histopathologically. Given the rarity of pulmonary involvement, the cases were consulted with Dr. Carlos Graeff-Teixeira.
管圆线虫病是由管圆线虫属线虫引起的一种感染,在美洲包括9种。同星管圆线虫引起人类嗜酸性肠炎,并在危地马拉有记录。人类被认为是costaricensis的偶然或最终宿主,因为它们不会在粪便中释放卵或幼虫。大多数报告的病例表现为腹部血管圆线虫病(AA)。寄生结构在炎性病变中很难识别,幼虫偶尔会迁移到肠外器官。诊断costaricensis的金标准是组织病理学分析,通过鉴定卵、组织中的幼虫和/或血管腔中的成虫来证实。在我科,我们对2例影响肺血管的costaricensis进行了病理诊断。鉴于肺部受累的罕见性,这些病例都咨询了Carlos graef - teixeira医生。
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引用次数: 0
Many thanks to everyone!! Let's keep pushing forward!! 非常感谢大家!让我们继续前进!!
Q4 Medicine Pub Date : 2025-04-01 DOI: 10.1016/j.patol.2025.100829
Santiago Ramón, Cajal Agüeras, Empar Mayordomo, Francesc Tresserra
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引用次数: 0
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Revista Espanola de Patologia
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