Annals of Diagnostic Pathology最新文献

Clinicopathological analysis of osteofibrous dysplasia and adamantinoma: A single institution experience 骨纤维结构不良和精钢瘤的临床病理分析：单一机构经验。

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-01-30 DOI: 10.1016/j.anndiagpath.2026.152618

Radhika Jayan , Bharat Rekhi , Mukta Ramadwar , Poonam Panjwani

Osteofibrous dysplasia (OFD) and adamantinoma are rare primary bone tumors. The present study is a clinico-pathological analysis of OFDs and adamantinomas, highlighting the value of distinguishing these tumors from their mimics and evaluating their proximity. OFDs, adamantinomas, fibrous dysplasias (FDs), and intraosseous synovial sarcomas (SS) of the tibia and fibula, diagnosed from 2012 to 2024 (12 years) were retrieved. Fifty-eight tumors were reviewed, and finally, 19 OFDs and 28 adamantinomas were analyzed. After a review, the diagnosis was modified in 12/58 (20.7%) tumors; with 4 OFDs revised to FDs; 2 FDs to OFDs; 2 intra-osseous SSs to classic adamantinomas; 3 OFD-like adamantinomas to classic adamantinomas, and a single de-differentiated adamantinoma to classic adamantinoma. The median age for OFD (10 years) was lower than that of adamantinoma (25 years). The radiological impression concurred with the histopathological diagnosis in 40% of OFDs and 60% of adamantinomas. Among 28 adamantinomas, there was a single OFD-like adamantinoma, 25 classic adamantinomas, and 2 dedifferentiated adamantinomas. Pan keratin (AE1/AE3) was positive in 18/19 (94.7%) OFDs and 19/20 (95%) adamantinomas. P40 (5/5, 100%) and p63 (6/8, 75%) were useful in the diagnosis of adamantinoma. Most adamantinomas were treated with surgery. None of the OFDs progressed to an adamantinoma during a median follow-up of 51.15 months(range = 4.36 to 97.94 months). Five out of 28 (17.9%) patients with an adamantinoma developed recurrences and 5 (17.9) developed metastases. The most commonly associated patterns with recurrences and metastasis in a classic adamantinoma were spindle and basaloid. The present study constitutes the first and the largest series of OFDs and adamantinomas from our subcontinent. OFD, OFD-like adamantinoma and adamantinoma may display overlapping clinico-radio-pathological profiles, and as such are potentially associated with diagnostic errors. Although there is a morphological continuum between OFD and adamantinoma, we did not observe a disease progression during the limited follow-up. It is crucial to distinguish an OFD and an adamantinoma from their various mimics, given treatment-associated implications. A long-term follow-up is suggested, as recurrences and metastases can occur late during the disease course.

骨纤维结构不良（OFD）和硬质瘤是罕见的原发性骨肿瘤。本研究是OFDs和金刚烷瘤的临床病理分析，强调区分这些肿瘤和它们的模拟物以及评估它们的接近性的价值。检索2012年至2024年（12年）诊断的胫骨和腓骨OFDs、adamtinoma、纤维结构不良（FDs）和骨内滑膜肉瘤（SS）。本文回顾了58例肿瘤，最后分析了19例OFDs和28例金刚烷瘤。复查后，12/58（20.7%）肿瘤的诊断被修改；将4个外管局修订为外管局；2 fd到ofd；2例骨内SSs与典型金刚烷瘤；3例ofd样精质瘤转化为典型精质瘤，1例去分化精质瘤转化为典型精质瘤。OFD的中位年龄（10岁）低于adamtinoma的中位年龄（25岁）。40%的OFDs和60%的金刚素瘤的影像学表现与组织病理学诊断一致。28例精质瘤中，ofd样精质瘤1例，典型精质瘤25例，去分化精质瘤2例。泛角蛋白（AE1/AE3）在18/19（94.7%）的OFDs和19/20（95%）的adamtinoma中呈阳性。P40（5/ 5,100 %）和p63（6/ 8,75 %）在金刚素瘤的诊断中有用。大多数金刚烷瘤采用手术治疗。在51.15个月（4.36 ~ 97.94个月）的中位随访期间，所有ofd均未发展为硬瘤。28例金刚瘤患者中有5例（17.9%）发生复发，5例（17.9%）发生转移。在典型的金刚素瘤中，与复发和转移最常见的相关类型是梭形和基底样。本研究构成了我们次大陆第一个也是最大的OFDs和金刚素瘤系列。OFD、OFD样金刚烷瘤和金刚烷瘤可能表现出重叠的临床、放射和病理特征，因此可能与诊断错误有关。虽然在OFD和金刚素瘤之间存在形态上的连续性，但在有限的随访中，我们没有观察到疾病进展。考虑到与治疗相关的影响，区分OFD和金刚素瘤与它们的各种模拟是至关重要的。建议长期随访，因为复发和转移可发生在病程晚期。

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引用次数: 0

Evaluation of the diagnostic utility of an immunohistochemical panel (MYB, MYBL1, β-catenin, and LEF1) in basaloid tumors of the salivary glands 免疫组化检测（MYB, MYBL1, β-catenin，和LEF1）对唾液腺基底细胞瘤的诊断价值评估

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-01-20 DOI: 10.1016/j.anndiagpath.2026.152616

Wenmin Yang , Chaoshan Wang , Dan Zhang , Lei Zhang , Ling Nie

Salivary gland tumors, including adenoid cystic carcinoma (ACC), pleomorphic adenoma (PA), basal cell adenoma (BCA), and basal cell adenocarcinoma (BCAC), share histologic features, making differential diagnosis difficult. However, these tumors differ in biological behavior, treatment strategy, and prognosis, so accurate pathological diagnosis is of great significance. In this study, we used a panel of immunohistochemical antibodies (MYB, MYBL1, β-catenin, and LEF1) to distinguish the abovementioned salivary basaloid tumors. For ACC, 80% (16/20) of cases were MYB-positive, and β-catenin was essentially negative. The BCAs and BCACs were characterized by frequent nuclear β-catenin and LEF1 expression, with positive rates 55% (16/29) and 76% (22/29), respectively. PAs were almost negative for the makers, except for a few cases with LEF1 (3/20) and MYB (1/20) positivity. MYB demonstrated a sensitivity of 80% and a specificity of 94% for ACCs. MYBL1 was negative in all included tumors. LEF1 exhibited a sensitivity of 76% and a specificity of 90% for BCAs and BCACs. β-catenin showed a low sensitivity (55%) but a high specificity (100%) for these tumors. Combined use of LEF1 and β-catenin improved sensitivity (90%) but resulted in a medium specificity (93%). In conclusion, the proposed immunohistochemical panel can improve diagnostic accuracy in basaloid tumors of the salivary glands.

涎腺肿瘤包括腺样囊性癌（ACC）、多形性腺瘤（PA）、基底细胞腺瘤（BCA）和基底细胞腺癌（BCAC），它们具有共同的组织学特征，使鉴别诊断变得困难。然而，这些肿瘤在生物学行为、治疗策略和预后方面存在差异，因此准确的病理诊断具有重要意义。在本研究中，我们使用免疫组化抗体（MYB、MYBL1、β-catenin和LEF1）来区分上述唾液基底样肿瘤。对于ACC， 80%（16/20）的病例myb阳性，β-catenin基本阴性。bca和BCACs的特点是核β-catenin和LEF1频繁表达，阳性率分别为55%（16/29）和76%（22/29）。除少数LEF1（3/20）和MYB（1/20）阳性外，制造者的PAs几乎为阴性。MYB对acc的敏感性为80%，特异性为94%。所有纳入的肿瘤MYBL1均为阴性。LEF1对BCAs和BCACs的敏感性为76%，特异性为90%。β-catenin对这些肿瘤的敏感性低（55%），但特异性高（100%）。联合使用LEF1和β-catenin提高了灵敏度（90%），但导致中等特异性（93%）。综上所述，免疫组化技术可提高唾液腺基底细胞瘤的诊断准确性。

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引用次数: 0

Comparative accuracy of telecytology and in-person rapid on-site evaluation by specimen source: A multi-campus analysis 远程细胞学的比较准确性和亲自现场快速评估的标本来源：一个多校园分析

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-01-08 DOI: 10.1016/j.anndiagpath.2026.152605

Agnes I. Udoh, Taylor Strange, Cecilia G. Clement

Rapid on-site evaluation (ROSE) of fine-needle aspiration (FNA) specimens improves specimen adequacy, diagnostic accuracy, and patient management. Telecytology (TC) has emerged as a potential alternative to in-person ROSE, particularly in multi-campus healthcare systems where cytopathologist coverage is limited; however, its comparative accuracy across different specimen sources remains uncertain. In this retrospective study, all FNAs with ROSE preliminary diagnoses performed across three campuses in our health system from 2022 to 2023 were reviewed. ROSE interpretations rendered via in-person evaluation or TC were compared with final diagnoses. Major discrepancies were defined as benign-to-malignant or malignant-to-benign discordance. Diagnostic accuracy was analyzed by specimen source, and chi-square tests were used to assess statistical significance. Of 2836 FNAs performed, 1697 underwent ROSE, including 1459 in-person and 238 TC cases. Major discrepancies occurred in 3% of in-person ROSE cases and 5% of TC cases, with no statistically significant difference (p = 0.2429). TC demonstrated numerically higher concordance than in-person ROSE for several visceral sites, including liver, kidney/adrenal, pancreatobiliary, and upper gastrointestinal FNAs, though none reached statistical significance. In contrast, in-person ROSE showed significantly higher accuracy for lymph node, head and neck, and bone/soft tissue FNAs. Overall, TC demonstrated accuracy comparable to in-person ROSE, with performance varying by specimen source. These findings support the feasibility of TC while underscoring the importance of specimen-specific evaluation, ongoing quality assurance, and prospective validation in multi-campus cytopathology practices.

细针抽吸（FNA）标本的快速现场评估（ROSE）提高了标本的充分性、诊断准确性和患者管理。远程细胞学（TC）已成为面对面ROSE的潜在替代方案，特别是在细胞病理学家覆盖范围有限的多校区医疗保健系统中；然而，其相对准确性在不同的标本来源仍然不确定。在这项回顾性研究中，我们回顾了从2022年到2023年在我们的卫生系统中三个校区进行的所有初步诊断为ROSE的FNAs。通过面对面评估或TC给出的ROSE解释比较最终诊断。主要差异被定义为良性到恶性或恶性到良性不一致。通过标本来源分析诊断准确性，采用卡方检验评估统计学意义。在进行的2836例FNAs中，1697例接受了ROSE，其中1459例为真人，238例为TC。面对面ROSE病例的3%和TC病例的5%存在较大差异，差异无统计学意义（p = 0.2429）。TC在数个内脏部位（包括肝脏、肾脏/肾上腺、胰胆管和上胃肠道FNAs）的一致性在数值上高于现场ROSE，但均未达到统计学意义。相比之下，面对面的ROSE在淋巴结、头颈和骨/软组织FNAs方面显示出更高的准确性。总体而言，TC显示出与现场ROSE相当的准确性，其性能因样品来源而异。这些发现支持了TC的可行性，同时强调了在多校区细胞病理学实践中标本特异性评估、持续质量保证和前瞻性验证的重要性。

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引用次数: 0

Histology of amiodarone-induced liver injury revisited: A retrospective morphologic analysis 胺碘酮所致肝损伤的组织学研究：回顾性形态学分析。

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-02-08 DOI: 10.1016/j.anndiagpath.2026.152623

Beena U. Ahsan , Maria Westerhoff , Lindsey Yassan , Rong Xia , John Hart

Amiodarone-induced liver injury (AILI) is a known risk of amiodarone therapy, with presentations ranging from asymptomatic aminotransferase elevations to severe or fatal hepatitis and cirrhosis. Due to limited understanding of its histopathologic features, we conducted a retrospective cross-sectional re-analysis of liver biopsy samples from patients on amiodarone from two centers. Of the 48 liver biopsy samples, 42 (87%) exhibited histologic evidence of AILI. All patients showed minimal or mild macrovesicular steatosis. Ballooned hepatocytes were observed in 36 cases (86%), with 25 (69%) displaying a periportal distribution, 8 (22%) centrilobular, and 3 (8%) panacinar in distribution. Mallory-Denk bodies were found in 36 samples (76%)—18 (50%) were numerous and 18 (50%) multiple. Cholestasis was present in 10 patients, 7 (70%) of whom died. In contrast, 10 (31%) of the 32 patients without cholestasis died. This represents a significantly increased mortality risk for patients with AILI and cholestasis (p = 0.03).

While AILI shares features with the more generally known metabolic dysfunction-associated steatotic liver disease, our findings indicate that a prominence of periportal distribution of ballooned hepatocytes and Mallory-Denk bodies despite a minimum of macrovesicular steatosis are characteristic of AILI. Furthermore, cholestasis in biopsy samples may suggest a poorer prognosis in patients on amiodarone.

胺碘酮诱导的肝损伤（AILI）是已知的胺碘酮治疗的风险，其表现从无症状的转氨酶升高到严重或致命的肝炎和肝硬化。由于对其组织病理学特征的了解有限，我们对来自两个中心的胺碘酮患者的肝活检样本进行了回顾性横断面重新分析。在48例肝活检样本中，42例（87%）表现出AILI的组织学证据。所有患者均表现为轻微或轻度的大泡性脂肪变性。36例（86%）肝细胞呈球状，其中25例（69%）呈门静脉周围分布，8例（22%）呈小叶中心分布，3例（8%）呈panacinar分布。在36例（76%）样本中发现Mallory-Denk尸体，其中18例（50%）为多例，18例（50%）为多例。10例患者出现胆汁淤积，其中7例（70%）死亡。相比之下，32例无胆汁淤积的患者中有10例（31%）死亡。这表明aii和胆汁淤积患者的死亡风险显著增加（p = 0.03）。虽然AILI与更广为人知的代谢功能障碍相关的脂肪变性肝病具有相同的特征，但我们的研究结果表明，尽管有少量的大泡性脂肪变性，但肝细胞球囊和Mallory-Denk小体在门静脉周围的显著分布是AILI的特征。此外，活检样本中的胆汁淤积可能提示胺碘酮患者预后较差。

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引用次数: 0

H3-3A gene mutation analysis in giant cell tumor of bone and its histologic mimics: A single institutional study from India 骨巨细胞瘤及其组织模拟物的H3-3A基因突变分析：来自印度的单一机构研究

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-01-08 DOI: 10.1016/j.anndiagpath.2026.152606

Shantveer G. Uppin , Monalisa Hui , Derin Mary Thomas , Megha S. Uppin , Vinay Nalla , K. Nageshwara Rao , Rajeev Reddy , Himakanth Lingala

Though the diagnostic utility of H3.3G34W immunohistochemistry (IHC) for giant cell tumor of bone (GCTB) is well established, it is limited by a proportion of cases with variant H3-3A mutations [H3-3A: c.104G>T p. Gly35Val (G34V), H3-3A: c.103G>A p. Gly35Arg (G34R), H3-3A: c.103_104delinsCT p. Gly35Leu (G34L)], wild-type genotype and H3-3A:c.103G>T p. Gly35Trp (G34W) mutation identified by sequencing but not by IHC. In this study, the H3-3A gene mutation by Sanger sequencing was analyzed in a large cohort of GCTB and its histological mimics. Sequencing of the H3-3A gene was performed to detect mutations in 148 GCTBs and 57 histologic mimics. The other osteoclast giant cell containing lesions histologically mimicking GCTB included were chondroblastoma (22), aneurysmal bone cyst (11), chondromyxoid fibroma (6), telangiectatic osteosarcoma (6), brown tumor of hyperparathyroidism (4), clear cell chondrosarcoma (3), osteoid osteoma (2), osteoblastoma (2) and giant cell reparative granuloma (1). Of the 148 GCTBs tested, 129 showed H3-3A gene mutations by Sanger sequencing and remaining 19 were wild type. The different H3-3A mutations detected included 126 H3-3A:c.103G>T p. Gly35Trp (G34W), one each of H3-3A: c.103G>A p. Gly35Arg (G34R), H3-3A: c.104G>T p. Gly35Val (G34V) and H3-3A: c.103_104delinsCT p. Gly35Leu (G34L). The results of H3-3A gene sequencing were in concordance with the immunohistochemical expression for H3.3G34W/R/V in 129 tumors. All the 57 osteoclast giant cell-containing lesions, other than GCTB, except one (1) case of chondroblastoma, did not show any mutations in the H3-3A gene. The latter case showed H3-3A: c.110A>T p. Lys37Met (K36M) mutation. The H3-3A gene sequencing assay demonstrated a sensitivity of 87.16% and an absolute specificity of 100% among the cases analyzed in the study. Determination of the H3-3A gene mutation by sequencing is a highly sensitive and absolutely specific diagnostic tool for the diagnosis of GCTB and differentiation from its histologic mimics.

虽然H3.3G34W免疫组织化学（IHC）对骨巨细胞瘤（GCTB）的诊断作用已经得到了很好的建立，但它受到一定比例的H3-3A变异突变病例的限制[H3-3A: c.104G>T p. Gly35Val (G34V), H3-3A:c.103G> a p. Gly35Arg (G34R), H3-3A: c.103_104delinsCT p. Gly35Leu (G34L)]，野生型基因型和H3-3A:c.103G>T p. Gly35Trp （G34W）突变通过测序而非IHC鉴定。在本研究中，通过Sanger测序分析了H3-3A基因突变在一个大队列的GCTB及其组织学模拟。对H3-3A基因进行测序，检测148个GCTBs和57个组织学模拟物的突变。其他组织学上类似GCTB的破骨细胞巨细胞病变包括成软骨细胞瘤（22例）、动脉瘤性骨囊肿（11例）、软骨粘液样纤维瘤（6例）、毛细血管扩张性骨肉瘤（6例）、甲状旁腺功能亢进棕色肿瘤（4例）、透明细胞软骨肉瘤（3例）、类骨骨瘤（2例）、成骨细胞瘤（2例）和巨细胞修复性肉芽肿（1例）。148个GCTBs中，Sanger测序显示H3-3A基因突变129个，其余19个为野生型。检测到的不同H3-3A突变包括126个H3-3A:c.103G>T . Gly35Trp (G34W), H3-3A:c.103G> A p. Gly35Arg (G34R), H3-3A: c.104G>T . Gly35Val （G34V）和H3-3A: c.103_104delinsCT p. Gly35Leu （G34L）。H3-3A基因测序结果与129例肿瘤中H3.3G34W/R/V的免疫组化表达一致。除1例成软骨细胞瘤外，其余57例含破骨细胞巨细胞病变均未见H3-3A基因突变。后者表现为H3-3A: c.110A>T . p. Lys37Met （K36M）突变。H3-3A基因测序法在本研究分析的病例中灵敏度为87.16%，绝对特异性为100%。通过测序检测H3-3A基因突变是一种高度敏感和绝对特异性的诊断工具，可用于GCTB的诊断和与组织学模拟物的区分。

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引用次数: 0

Polyarteritis nodosa with isolated organ involvement requiring resection in the genitourinary system 泌尿生殖系统淋巴结性多动脉炎伴孤立脏器受累需切除

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-01-20 DOI: 10.1016/j.anndiagpath.2026.152615

Busra Yaprak Bayrak , Selva Kabul , Suheda Zeynep Seday , Sule Ozsoy , Hazal Taş Solak , Kutsal Yorukoglu , Kemal Kosemehmetoglu , Mahmut Akgul

Polyarteritis nodosa (PAN) is a necrotizing vasculitis of medium-sized arteries that is classically described as a multisystem disease. However, PAN may rarely present with isolated organ involvement, occasionally leading to irreversible organ loss before a definitive diagnosis is established. Data on such presentations remain limited and are largely confined to isolated case reports. We retrospectively evaluated eight patients diagnosed with PAN from multiple centers, focusing on clinical presentation, imaging findings, serological results, histopathological features, treatment approaches, and outcomes. The cohort included six women and two men, with ages ranging from 25 to 76 years. Clinical presentation was highly heterogeneous and frequently dominated by life-threatening genitourinary events, including massive renal hemorrhage, retroperitoneal hematoma, renovascular disease with aneurysm formation and infarction, and acute testicular pain and swelling. Five of the eight patients were classified as having isolated, single-organ PAN, predominantly involving the kidney and, less frequently, the testis. In these patients, organ loss was often the event that led to definitive diagnosis. Imaging findings supported vascular patterns consistent with PAN, including hematoma, arterial stenosis, aneurysmal changes, and ischemic sequelae. Serological evaluation was largely nondiagnostic, with predominant ANCA negativity. Histopathological examination consistently demonstrated necrotizing arteritis of medium-sized arteries with fibrinoid necrosis, thrombosis, and transmural inflammation, without glomerular or granulomatous involvement. Multisystem disease was identified in three patients, including one fatal presentation diagnosed at autopsy. This multicenter case series highlights isolated-organ PAN as a rare but clinically significant presentation, frequently recognized only after catastrophic vascular complications result in resection. Our findings emphasize the pivotal role of surgical pathology and clinicopathological correlation in establishing the diagnosis and underscore the need to consider PAN in unexplained renal or testicular vascular catastrophes, even in the absence of classic systemic features.

结节性多动脉炎（PAN）是一种中等动脉坏死性血管炎，通常被描述为一种多系统疾病。然而，PAN可能很少表现为孤立的器官受累，偶尔在明确诊断之前导致不可逆的器官丧失。关于此类报告的数据仍然有限，而且主要局限于孤立的病例报告。我们回顾性评估了来自多个中心诊断为PAN的8例患者，重点关注临床表现、影像学表现、血清学结果、组织病理学特征、治疗方法和结果。研究对象包括6名女性和2名男性，年龄从25岁到76岁不等。临床表现高度异质性，经常以危及生命的泌尿生殖系统事件为主，包括大量肾出血、腹膜后血肿、肾血管疾病伴动脉瘤形成和梗死、急性睾丸疼痛和肿胀。8例患者中有5例被归类为孤立的单器官PAN，主要累及肾脏，较少累及睾丸。在这些患者中，器官丧失往往是导致最终诊断的事件。影像学结果支持与PAN一致的血管模式，包括血肿、动脉狭窄、动脉瘤样改变和缺血性后遗症。血清学评价主要是非诊断性的，主要是ANCA阴性。组织病理学检查一致显示中等动脉坏死性动脉炎伴纤维蛋白样坏死、血栓形成和跨壁炎症，无肾小球或肉芽肿累及。在3例患者中发现了多系统疾病，其中包括尸检诊断出的致命症状。这个多中心的病例系列强调了孤立器官PAN是一种罕见但具有临床意义的表现，通常只有在灾难性血管并发症导致切除后才会被发现。我们的研究结果强调了外科病理和临床病理相关性在确定诊断中的关键作用，并强调了在不明原因的肾脏或睾丸血管灾难中考虑PAN的必要性，即使没有经典的全身特征。

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引用次数: 0

Diagnostic and prognostic inferences of Tricho-rhino-phalangeal Syndrome 1 (TRPS1) protein immunohistochemical expression in primary epithelial ovarian cancers 原发性上皮性卵巢癌中TRPS1蛋白免疫组化表达的诊断和预后推断

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-01-08 DOI: 10.1016/j.anndiagpath.2026.152608

Rokia Masoud , Amal Abd El hafez , Eman E. Saad , Amr Hossam , Amany Hassan

Tricho-rhino-phalangeal Syndrome 1 (TRPS1) protein is a transcription factor that is altered in multiple cancers. Its role in epithelial ovarian cancers (EOCs) is still unexplored. This cross-sectional study investigates the immunohistochemical (IHC) expression of TRPS1 in EOCs exploring its diagnostic, prognostic and therapeutic inferences in a total of 127 EOC patients diagnosed at Oncology Center, Mansoura University. Tissue microarray sections were stained with anti-TRPS1. Based on quantitative scoring, TRPS1 was expressed in 74% of EOCs: 26% low-positive and 48% high-positive expression. TRPS1 was expressed in endometrioid, clear cell, high-grade serous, mucinous, and low-grade serous carcinomas (92.9, 78.6, 73.8, 71.4, and 50%, respectively), with a high-positive expression in endometrioid (71.5%), followed by mucinous (57.1%), then high-grade serous (50%) carcinomas. There were no statistically significant associations with most of the analyzed variables or survival outcomes, though the TRPS1-positive group had slightly better overall and disease-free survival early on, but this advantage diminished over time. In conclusion, TRPS1 is substantially expressed in EOCs and across different histological subtypes. It may be used in diagnosis of EOC; however, it is not a reliable prognostic marker. Alongside breast carcinoma, EOC should be considered in differential diagnosis it TRPS1 -positive metastatic lesions of unknown primary.

Tricho-rhino-phalangeal Syndrome 1 （TRPS1）蛋白是在多种癌症中发生改变的转录因子。其在上皮性卵巢癌（EOCs）中的作用尚不清楚。本横断面研究探讨了在曼苏拉大学肿瘤中心诊断的127例EOC患者中TRPS1在EOC中的免疫组织化学（IHC）表达，探讨其诊断、预后和治疗的相关性。组织芯片切片用抗trps1染色。定量评分显示，TRPS1在74%的EOCs中表达，其中低阳性表达26%，高阳性表达48%。TRPS1在子宫内膜样癌、透明细胞癌、高级别浆液性癌、粘液性癌和低级别浆液性癌中表达（分别为92.9、78.6、73.8、71.4和50%），其中子宫内膜样癌高阳性表达（71.5%），其次是黏液性癌（57.1%），然后是高级别浆液性癌（50%）。虽然trps1阳性组在早期的总生存率和无病生存率稍好，但这种优势随着时间的推移而减弱，但与大多数分析变量或生存结果没有统计学上的显著关联。综上所述，TRPS1在EOCs中大量表达，并跨越不同的组织学亚型。可用于EOC的诊断；然而，它并不是一个可靠的预后指标。与乳腺癌一样，对于原发不明的TRPS1阳性转移性病变，EOC应作为鉴别诊断的考虑因素。

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引用次数: 0

Macroscopic and microscopic features indicating serosal invasion of colonic adenocarcinoma 大肠腺癌可见浆膜浸润。

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-02-01 DOI: 10.1016/j.anndiagpath.2026.152619

Chalisa Wongcharoen , Saowalak Hunnangkul , Ananya Pongpaibul , Napat Angkathunyakul

Objectives

Colonic adenocarcinoma poses a significant global health burden. Accurate detection of serosal invasion (pT4) is crucial for prognosis, yet inconsistent grossing protocols create diagnostic challenges. We aimed to evaluate macroscopic predictors of serosal invasion, determine the minimum tumor blocks required for accurate staging, and assess pT4 frequency at Siriraj Hospital.

Materials and methods

We performed a retrospective review of a cohort comprising 218 patients diagnosed with colonic adenocarcinoma. The assessment was conducted by gastrointestinal pathologists and a trainee, integrating clinical records and macroscopic characteristics. Macroscopic features were categorized, including serosal surface appearance (smooth, irregular, bulging, perforated, adherent), tumor circumferential involvement, and depth of invasion on the cut surface (confined to muscularis propria, into pericolic tissue, or through serosa), correlated with histopathological evaluation according to the AJCC Cancer Staging Manual, 8th edition. Statistical analyses were executed to identify independent predictors of pT4a staging.

Results

The pT4 prevalence was 20.2% (pT4a: 14.7%, pT4b: 5.5%). Multivariate analysis confirmed irregular serosa as a strong predictor (aOR: 7.03, 95% CI: 1.99–24.71). Notably, macroscopic observation of tumor penetration through the serosa on the cut surface exhibited the highest predictive value (aOR: 48.76, 95% CI: 9.43–252.15). Data indicated that submitting at least two blocks from the tumor-serosa interface ensured reliable staging.

Conclusions

Our pT4 rates align with international benchmarks. Irregular serosa and macroscopic serosal penetration are robust pT4a predictors. We recommend meticulous gross examination and submitting a minimum of two blocks from the deepest invasion point to optimize staging accuracy.

目的：结肠腺癌是一个重大的全球健康负担。准确检测浆膜侵袭（pT4）对预后至关重要，然而不一致的治疗方案给诊断带来了挑战。我们的目的是评估浆膜侵袭的宏观预测因素，确定准确分期所需的最小肿瘤块，并评估Siriraj医院pT4的频率。材料和方法：我们对218例诊断为结肠腺癌的患者进行了回顾性研究。评估由胃肠病理学家和一名实习生进行，结合临床记录和宏观特征。根据AJCC《癌症分期手册》第8版，对宏观特征进行分类，包括浆膜表面外观（光滑、不规则、膨出、穿孔、粘附）、肿瘤周向累及、切面浸润深度（局限于固有肌层、进入包膜组织或通过浆膜），并与组织病理学评估相关。进行统计学分析以确定pT4a分期的独立预测因子。结果：pT4患病率为20.2% （pT4a: 14.7%, pT4b: 5.5%）。多因素分析证实不规则浆膜是一个强有力的预测因子（aOR: 7.03, 95% CI: 1.99-24.71）。值得注意的是，肉眼观察肿瘤穿透切面浆膜的预测价值最高（aOR: 48.76, 95% CI: 9.43-252.15）。数据表明，从肿瘤-浆膜界面提交至少两个区块确保可靠的分期。结论：我们的pT4率与国际基准一致。不规则浆膜和宏观浆膜穿透是可靠的pT4a预测因子。我们建议仔细的大体检查，并从最深的侵犯点提交至少两个街区，以优化分期准确性。

{"title":"Macroscopic and microscopic features indicating serosal invasion of colonic adenocarcinoma","authors":"Chalisa Wongcharoen , Saowalak Hunnangkul , Ananya Pongpaibul , Napat Angkathunyakul","doi":"10.1016/j.anndiagpath.2026.152619","DOIUrl":"10.1016/j.anndiagpath.2026.152619","url":null,"abstract":"<div><h3>Objectives</h3><div>Colonic adenocarcinoma poses a significant global health burden. Accurate detection of serosal invasion (pT4) is crucial for prognosis, yet inconsistent grossing protocols create diagnostic challenges. We aimed to evaluate macroscopic predictors of serosal invasion, determine the minimum tumor blocks required for accurate staging, and assess pT4 frequency at Siriraj Hospital.</div></div><div><h3>Materials and methods</h3><div>We performed a retrospective review of a cohort comprising 218 patients diagnosed with colonic adenocarcinoma. The assessment was conducted by gastrointestinal pathologists and a trainee, integrating clinical records and macroscopic characteristics. Macroscopic features were categorized, including serosal surface appearance (smooth, irregular, bulging, perforated, adherent), tumor circumferential involvement, and depth of invasion on the cut surface (confined to muscularis propria, into pericolic tissue, or through serosa), correlated with histopathological evaluation according to the AJCC Cancer Staging Manual, 8th edition. Statistical analyses were executed to identify independent predictors of pT4a staging.</div></div><div><h3>Results</h3><div>The pT4 prevalence was 20.2% (pT4a: 14.7%, pT4b: 5.5%). Multivariate analysis confirmed irregular serosa as a strong predictor (aOR: 7.03, 95% CI: 1.99–24.71). Notably, macroscopic observation of tumor penetration through the serosa on the cut surface exhibited the highest predictive value (aOR: 48.76, 95% CI: 9.43–252.15). Data indicated that submitting at least two blocks from the tumor-serosa interface ensured reliable staging.</div></div><div><h3>Conclusions</h3><div>Our pT4 rates align with international benchmarks. Irregular serosa and macroscopic serosal penetration are robust pT4a predictors. We recommend meticulous gross examination and submitting a minimum of two blocks from the deepest invasion point to optimize staging accuracy.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"82 ","pages":"Article 152619"},"PeriodicalIF":1.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127033","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

LEF1 and IL13RA2 in testicular sex cord–stromal tumors: LEF1 as a potential diagnostic marker for Sertoli cell tumors 睾丸性索间质肿瘤中的LEF1和IL13RA2: LEF1作为支持细胞肿瘤的潜在诊断标志物

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-02-03 DOI: 10.1016/j.anndiagpath.2026.152622

Mario Della Mura , Joana Sorino , Gerardo Cazzato , Alessandro Rizzo , Carlo Gentile , Giovanni Musci , Rosanna Nenna , Alessandro D'Amuri , Annamaria Lavecchia , Roberta Lucianò , Giuseppe Ingravallo

Testicular sex cord–stromal tumors (TSCSTs) are rare and heterogeneous neoplasms, most commonly represented by Leydig cell tumors (LCTs) and Sertoli cell tumors (SCTs). While SCTs are characterized by activation of the Wnt/β-catenin pathway, immunohistochemical detection of β-catenin is often limited by variable staining patterns and interpretative challenges. Lymphoid enhancer factor 1 (LEF1), a nuclear transcription factor cooperating with β-catenin, may represent a more reliable surrogate marker. In parallel, the expression of the cancer/testis antigen IL13Rα2 in TSCSTs has not been previously investigated. To the aim, we retrospectively analyzed 17 TSCSTs (12 LCTs and 5 SCTs) diagnosed between 2020 and 2025 at four Italian institutions. All cases were reviewed according to current WHO and GUPS/ISUP TESST criteria. Immunohistochemistry for β-catenin, LEF1, and IL13Rα2 was performed, assessing staining pattern and extent. Non-neoplastic testicular tissue and selected mimickers were included as controls. All SCTs showed strong and diffuse nuclear LEF1 expression (5/5, 100%), associated with nuclear and cytoplasmic β-catenin staining. In contrast, there was no significant LEF1 expression in all LCTs, control cases, and non-neoplastic testicular parenchyma. Focal IL13Rα2 expression was observed in a subset of LCTs (4/12, 33.3%), whereas all SCTs were negative. Therefore, in the differential diagnosis between SCT and LCT, our results suggest LEF1 is a highly sensitive and specific immunohistochemical marker and may represent a robust alternative to β-catenin, offering clearer nuclear staining and easier interpretation. The detection of IL13Rα2 in a subset of LCTs is a novel finding and suggests potential biological and therapeutic relevance, warranting further investigation in larger and clinically aggressive cohorts.

睾丸性索间质瘤（TSCSTs）是一种罕见的异质性肿瘤，最常见的是间质细胞瘤（LCTs）和支持细胞瘤（SCTs）。虽然sct的特征是Wnt/β-catenin通路的激活，但β-catenin的免疫组织化学检测通常受到染色模式和解释挑战的限制。淋巴细胞增强因子1 （LEF1）是一种与β-连环蛋白协同作用的核转录因子，可能是一种更可靠的替代标志物。同样，癌/睾丸抗原IL13Rα2在TSCSTs中的表达也未被研究过。为此，我们回顾性分析了意大利四家机构在2020年至2025年间诊断的17例TSCSTs（12例LCTs和5例sct）。所有病例均根据现行的世卫组织和GUPS/ISUP检测标准进行了审查。对β-catenin、LEF1和IL13Rα2进行免疫组化，评估染色模式和程度。非肿瘤睾丸组织和选定的模拟物作为对照。所有sct均显示核内强烈且弥漫性的LEF1表达（5/ 5,100 %），并伴有核内和细胞质β-catenin染色。相比之下，LEF1在所有LCTs、对照病例和非肿瘤性睾丸实质中均无显著表达。局部IL13Rα2在lct中表达（4/12,33.3%），而所有sct均为阴性。因此，在SCT和LCT的鉴别诊断中，我们的研究结果表明，LEF1是一个高度敏感和特异性的免疫组织化学标志物，可能是β-catenin的一个强有力的替代品，提供更清晰的核染色和更容易的解释。IL13Rα2在lct亚群中的检测是一项新发现，提示潜在的生物学和治疗相关性，值得在更大的临床侵袭性队列中进一步研究。

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引用次数: 0

Comprehensive next generation sequencing of middle ear neuroendocrine tumors 中耳神经内分泌肿瘤的下一代综合测序。

IF 1.4 4区医学 Q3 PATHOLOGY

Annals of Diagnostic Pathology

Pub Date : 2026-06-01 Epub Date: 2026-02-01 DOI: 10.1016/j.anndiagpath.2026.152620

Justin A. Bishop , Jing Xu , Lester D.R. Thompson

Middle ear neuroendocrine tumor (MeNET) is a distinctive, uncommon neoplasm of the ear. Previously regarded as “middle ear adenoma” among other names, it was found to be consistently positive for neuroendocrine markers, with differentiation analogous to normal intestinal L cells, and has therefore been classified similarly to other neuroendocrine tumors throughout the body. Nevertheless, MeNETs have an unusual two-cell population and therefore may be unique among NETs. We sought to characterize a group of MeNETs by next-generation sequencing (NGS).

Six MeNETs from the authors' archives were retrieved, with histologic and immunohistochemical results tabulated. Targeted DNA and RNA NGS were attempted on all cases. Clinical follow-up was obtained.

The MeNETs arose in the middle ears of five men and one woman, ranging from 31 to 57 years (median, 47.5 years). Four cases were grade 1 and two cases grade 2 (one based on necrosis and one based on an elevated Ki67 index). DNA NGS was successful in five of six cases, with probable pathogenic variants including: ATRX mutations in two cases, chromosome 22 deletion, and DNMT3A, STAG2, RB1, HRAS, NF1, and SF3B1 mutations in one case each. In general, the variants were found at low allele frequencies. RNA NGS was successful in all cases, with one case harboring a fusion of unknown significance (R3HDM2::EP400). Follow up available in all cases, with five patients without disease (mean, 74 months; median, 17 months), with one patient (one of the grade 2 tumors) experiencing widespread distant metastases and dying 96 months after diagnosis.

Despite the consistent appearance of MeNET, they are heterogeneous at the molecular level, with low mutational burdens but lacking consistent, recurrent alterations. This is similar to well-differentiated NETs of other organs, in particular the small intestine and lung. Overall, our findings support the grouped classification of MeNET within the larger NET scheme.

中耳神经内分泌肿瘤（MeNET）是一种独特的、罕见的耳部肿瘤。以前被认为是“中耳腺瘤”等名称，发现其神经内分泌标志物一直呈阳性，分化类似于正常肠L细胞，因此与全身其他神经内分泌肿瘤分类相似。然而，menet具有不寻常的双细胞群，因此可能是net中唯一的。我们试图通过下一代测序（NGS）来表征一组menet。从作者的档案中检索了6例menet，并将组织学和免疫组织化学结果制成表格。所有病例均尝试靶向DNA和RNA NGS。进行临床随访。menet出现在5名男性和1名女性的中耳，年龄从31岁到57岁不等（中位数为47.5岁）。4例为1级，2例为2级（1例基于坏死，1例基于Ki67指数升高）。DNA NGS在6例病例中有5例成功，可能的致病变异包括：2例ATRX突变，22号染色体缺失，DNMT3A、STAG2、RB1、HRAS、NF1和SF3B1各1例突变。一般来说，这些变异是在低等位基因频率上发现的。RNA NGS在所有病例中都是成功的，其中一个病例具有未知意义的融合（R3HDM2::EP400）。所有病例均可随访，其中5例患者无疾病（平均74个月，中位17个月），1例患者（2级肿瘤之一）出现广泛的远处转移并在诊断后96个月死亡。尽管MeNET具有一致的外观，但它们在分子水平上是异质的，具有低突变负担，但缺乏一致的复发性改变。这与其他器官，特别是小肠和肺的高分化NETs相似。总的来说，我们的研究结果支持MeNET在更大的NET方案中的分组分类。

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引用次数: 0