Human pathology最新文献_第7页

Sarcomatoid carcinoma of the prostate – A single institution experience with emphasis on molecular genetic findings 前列腺肉瘤样癌-强调分子遗传学发现的单一机构经验。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-22 DOI: 10.1016/j.humpath.2025.105988

Burak Tekin , Lagnajita Datta , Ramin Zargham , William R. Sukov , John C. Cheville , Loren Herrera Hernandez , Stephen A. Boorjian , R. Jeffrey Karnes , Sounak Gupta , Rafael E. Jimenez

Objectives

Sarcomatoid carcinoma of the prostate (SCP) is a rare neoplasm known for its diagnostic difficulties and aggressive clinical course. Given the paucity of literature on its molecular landscape, we aimed to investigate a cohort of SCP, using a multi-modal approach.

Methods

Our surgical pathology archive was queried for patients diagnosed with SCP (2006–2022), followed by re-review of archived slides. For each case, a panel of immunohistochemical stains (including programmed death-ligand 1 [PD-L1] clones SP142, SP263, and 22C3) was performed on a representative block. Fluorescence in situ hybridization (FISH) was used to evaluate chromosomes 10 (including PTEN) and 17 (including TP53). All cases were evaluated using a next-generation sequencing (NGS) panel.

Results

Eight patients were included. Three (37.5 %) had a prior history of acinar adenocarcinoma, while a concomitant adenocarcinoma was present in five patients (62.5 %). The median duration of follow-up was 20.5 months. Seven patients (87.5 %) presented with or developed systemic metastases during follow-up. At last follow-up, 6 patients (75 %) were dead of disease. Three of the 7 cases (42.9 %) assessed for PD-L1 expression showed some staining. The most common pathogenic alterations identified by NGS involved TP53 (n = 5), followed by APC, BRCA2, CHECK2, CTNNB1, and RB1 (n = 1, each). On FISH testing, copy number changes involving chromosome 10 and 17 were found in 80 % and 60 % of the cases, respectively.

Conclusions

This study sheds light on the molecular landscape of SCP, which may be valuable to elucidate the prognostic and therapeutic implications for this uncommon disease.

目的：前列腺肉瘤样癌（SCP）是一种罕见的肿瘤，以其诊断困难和侵袭性临床过程而闻名。鉴于缺乏关于其分子景观的文献，我们旨在使用多模式方法调查SCP队列。方法：查询我院2006-2022年诊断为SCP的患者的手术病理档案，然后重新审查存档的切片。对于每个病例，在具有代表性的块上进行一组免疫组织化学染色（包括程序性死亡配体1 [PD-L1]克隆SP142， SP263和22C3）。采用荧光原位杂交技术（FISH）对10号染色体（包括PTEN）和17号染色体（包括TP53）进行鉴定。所有病例均采用下一代测序（NGS）面板进行评估。结果：纳入8例患者。3例（37.5%）既往有腺泡腺癌病史，5例（62.5%）合并腺癌。中位随访时间为20.5个月。7例（87.5%）患者在随访期间出现或发生全身转移。末次随访6例（75%）病死。7例患者中有3例（42.9%）的PD-L1表达出现染色。NGS发现的最常见的致病改变涉及TP53 (n=5)，其次是APC、BRCA2、CHECK2、CTNNB1和RB1（各n=1）。在FISH检测中，涉及10号染色体和17号染色体的拷贝数变化分别在80%和60%的病例中被发现。结论：本研究揭示了SCP的分子格局，这可能对阐明这种罕见疾病的预后和治疗意义有价值。

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引用次数: 0

Conventional FLCN-mutated tumor: a retrospective study of 5 cases with emphasis on diagnostic challenges 常规flcn突变肿瘤：5例回顾性研究，重点是诊断挑战。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-22 DOI: 10.1016/j.humpath.2025.105986

Liangbin Wan , Bin Xie , Qi Li , Qiang Ma , Ying Huang , Zhongliang Hu , Junming Feng , Kuo Tong

Background

Conventional FLCN-mutated tumors (c-FMTs) occur in Birt-Hogg-Dubé syndrome (BHD), posing diagnostic challenges due to their overlapping histology with chromophobe renal cell carcinoma (ChRCC) and renal oncocytoma (RO).

Methods and results

Clinicopathological analysis, immunohistochemistry, fluorescence in situ hybridization, and whole exome sequencing (WES) were performed in this study. This cohort comprised 4 males and 1 female with ages from 31 to 69 years (median: 53 years) and tumor diameters from 0.8 to 3.5 cm (median: 2.6 cm). Four of 5 cases showed a solitary lesion macroscopically. These cases were initially diagnosed as ChRCC (n = 3), RO (n = 1), and eosinophilic vacuolated tumor (EVT, n = 1) and displayed variable nested, acinar, solid structures, and mixtures of oncocytic and pale/clear cells, lacking marked tubules, cysts, and papillae in nonconventional FMT. All tumors exhibited mutually exclusive FOXI1 and L1CAM staining. L1CAM was negative in ChRCCs (10/10) and most ROs (7/8), but positive in low grade oncocytic tumors (5/5) and EVT (1/1). WES identified (likely) pathogenic FLCN mutations in all cases and biallelic inactivation of FLCN was detected in 4 (80 %) of 5 cases. Copy number analysis revealed no characteristic chromosomal loss of ChRCCs. Although metachronous TFE3-traslocation RCC occurred in 1 of 4 patients, all patients remained disease-free, except for 1 patient alive with tumors.

Conclusions

Conventional FMTs are indolent tumors, harboring hybrids of likely multiple cell populations. These tumors are usually misdiagnosed as sporadic ChRCCs or ROs. The panel of CK7, CD117, FOXI1, and L1CAM is useful for the diagnosis of c-FMTs.

背景：传统的flcn突变肿瘤（c-FMTs）发生在birt - hogg - dub综合征（BHD）中，由于其与嫌色性肾细胞癌（ChRCC）和肾嗜癌细胞瘤（RO）的组织学重叠，给诊断带来了挑战。方法和结果：本研究采用临床病理分析、免疫组织化学、荧光原位杂交和全外显子组测序（WES）。该队列包括4名男性和1名女性，年龄从31岁到69岁（中位数：53岁），肿瘤直径从0.8到3.5厘米（中位数：2.6厘米）。5例中有4例在宏观上表现为单发病变。这些病例最初被诊断为ChRCC （n=3）、RO （n=1）和嗜酸性空泡瘤（EVT, n=1），并表现为不同的巢状、腺泡状、实体结构，以及嗜瘤细胞和苍白/透明细胞的混合物，在非常规FMT中缺乏明显的小管、囊肿和乳头状。所有肿瘤均表现出互斥的FOXI1和L1CAM染色。L1CAM在chrcc（10/10）和大多数ROs（7/8）中呈阴性，而在低级别癌细胞肿瘤（5/5）和EVT（1/1）中呈阳性。WES在所有病例中发现（可能）致病性FLCN突变，5例中有4例（80%）检测到FLCN双等位基因失活。拷贝数分析未发现chrcc的特征性染色体丢失。虽然4例患者中有1例发生了异时性tfe3易位性RCC，但除了1例存活的肿瘤患者外，所有患者均无疾病。结论：传统的FMTs是惰性肿瘤，可能包含多个细胞群的杂交。这些肿瘤通常被误诊为散发性chrcc或ROs。CK7、CD117、FOXI1和L1CAM的组合对c-FMTs的诊断是有用的。

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引用次数: 0

Impact of gender and age on the histologic severity of metabolic syndrome associated steatohepatitis 性别和年龄对代谢综合征相关脂肪性肝炎组织学严重程度的影响

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-22 DOI: 10.1016/j.humpath.2025.105985

Eesha K. Acharya , Robert Lam , Joseph K. Lim , Yanhong Deng , Dhanpat Jain

Background

Metabolic dysfunction–associated steatotic liver disease (MASLD) and its progressive form, metabolic dysfunction–associated steatohepatitis (MASH), are leading causes of chronic liver disease. Although clinical studies suggest age and gender may influence disease severity, histologic data remain limited. We investigated the relationship between age, gender, and histologic features of MASH.

Methods

We retrospectively reviewed 407 liver biopsies (2012–2019) with histologic steatosis. Clinical, demographic, and laboratory data were collected. Biopsies were assessed for steatosis, inflammation, ballooning, and fibrosis, and the NAFLD activity score (NAS) was calculated. Patients were divided into four groups: women 18–50 years, men 18–50 years, women >50 years, and men >50 years. Statistical analyses included univariable and multivariable ordinal logistic regression.

Results

Younger patients (18–50 years) had higher steatosis and NAS irrespective of gender, while older patients (>50 years) had higher fibrosis scores. Fibrosis was most severe in older men (mean stage 2.41 ± 1.41), compared with younger men (1.21 ± 1.21) and younger women (1.52 ± 1.30). Severe ballooning and lobular inflammation were more frequent in women, particularly younger women. In multivariable regression, age > 50 years remained independently associated with higher fibrosis stage (OR 2.17), while gender was not significant. BMI did not differ between groups.

Conclusions

Older age is strongly associated with higher fibrosis in MASH, independent of BMI and other clinical covariates. Gender-related differences in histologic features contributed to NAS but were not statistically significant. These findings highlight age as a potentially important driver of fibrosis progression in MASH. Hormonal factors may play a role but further investigation is warranted.

代谢功能障碍相关脂肪性肝病（MASLD）及其进行性形式代谢功能障碍相关脂肪性肝炎（MASH）是慢性肝病的主要原因。尽管临床研究表明年龄和性别可能影响疾病的严重程度，但组织学数据仍然有限。我们研究了年龄、性别和MASH的组织学特征之间的关系。方法回顾性分析2012-2019年407例组织学脂肪变性肝活检病例。收集临床、人口统计学和实验室数据。活检评估脂肪变性、炎症、水肿和纤维化，并计算NAFLD活动评分（NAS）。患者分为女性18 ~ 50岁、男性18 ~ 50岁、女性50岁、男性50岁四组。统计分析包括单变量和多变量有序逻辑回归。结果年轻患者（18-50岁）的脂肪变性和NAS评分较高，与性别无关，而老年患者（50岁）的纤维化评分较高。老年男性的纤维化最严重（平均分期2.41±1.41），而年轻男性（1.21±1.21）和年轻女性（1.52±1.30）。严重的球囊和小叶炎症在女性中更为常见，尤其是年轻女性。在多变量回归中，年龄和50岁仍然与较高的纤维化分期独立相关（OR 2.17），而性别不显著。BMI在两组之间没有差异。结论年龄与MASH患者较高的纤维化密切相关，独立于BMI和其他临床协变量。与性别相关的组织学特征差异导致NAS，但没有统计学意义。这些发现强调了年龄是MASH纤维化进展的潜在重要驱动因素。激素因素可能起作用，但需要进一步调查。

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引用次数: 0

Prevalence and distribution of human papillomavirus type 16 in esophageal squamous cell carcinoma and its association with p16INK4A expression: A large-scale study in Japan 16型人乳头瘤病毒在食管鳞状细胞癌中的流行和分布及其与p16INK4A表达的关系：日本的一项大规模研究

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-12 DOI: 10.1016/j.humpath.2025.105983

Kaiyuan Jiang , Hirotaka Ishida , Yusuke Taniyama , Chiaki Sato , Hiroshi Okamoto , Yohei Ozawa , Yuto Yamazaki , Hironobu Sasano , Michiaki Unno , Takashi Suzuki , Takashi Kamei

The infection rate of human papillomavirus (HPV) in esophageal squamous cell carcinoma (ESCC) varies widely (0 %–88.9 %), and the diagnostic utility of p16^INK4A as a surrogate marker remains controversial. Moreover, the distribution of HPV infection in ESCC has not been previously investigated. Patients with ESCC who underwent esophagectomy without neoadjuvant therapy between 2007 and 2022 were included in this study. Three formalin-fixed, paraffin-embedded blocks (oral side, tumor, and esophagogastric junction (EGJ)) were collected. p16^INK4A expression was assessed by immunohistochemistry (positivity defined as a labeling index of ≥10 %), whereas HPV type 16 DNA was detected by polymerase chain reaction. The distribution of HPV distribution was also assessed. In total, 158 patients were analyzed. p16^INK4A was detected in 19.0 % (30/158) and HPV DNA in 3.8 % (6/158) of tumor samples. The sensitivity and positive predictive value of p16^INK4A immunohistochemistry for detecting HPV DNA were 100 % and 20.0 %, respectively. HPV DNA was also detected in 3.6 % (5/137) of the oral side and 2.7 % (4/146) of EGJ samples. Infectious mapping revealed a random distribution pattern across the three anatomical regions. This large-scale study demonstrated a low prevalence of HPV infection in ESCC and indicated that p16^INK4A immunohistochemistry may aid in reducing the risk of missing patients with HPV-positive tumors. Notably, the random-like distribution of HPV DNA across the three anatomical sites suggests partial viral clearance by the host immune response. These findings underscore the potential for false-negative results in biopsy specimens obtained from non-infected regions in otherwise HPV-positive patients.

人乳头瘤病毒（HPV）在食管鳞状细胞癌（ESCC）中的感染率差异很大（0%-88.9%），p16INK4A作为替代标志物的诊断效用仍存在争议。此外，HPV感染在ESCC中的分布以前没有调查过。本研究纳入了2007年至2022年间接受食管切除术且未接受新辅助治疗的ESCC患者。收集三个福尔马林固定石蜡包埋块（口腔侧、肿瘤和食管胃交界处（EGJ））。p16INK4A的表达通过免疫组织化学检测（阳性定义为标记指数≥10%），而HPV 16型DNA通过聚合酶链反应检测。同时评估HPV的分布情况。总共分析了158例患者。在19.0%（30/158）的肿瘤样本中检测到p16INK4A，在3.8%（6/158）的肿瘤样本中检测到HPV DNA。p16INK4A免疫组化检测HPV DNA的敏感性为100%，阳性预测值为20.0%。口腔侧和EGJ侧分别有3.6%（5/137）和2.7%（4/146）检出HPV DNA。传染图谱显示了三个解剖区域的随机分布模式。这项大规模研究表明，ESCC中HPV感染的患病率较低，并表明p16INK4A免疫组化可能有助于降低HPV阳性肿瘤患者缺失的风险。值得注意的是，HPV DNA在三个解剖部位的随机分布表明宿主免疫反应部分清除了病毒。这些发现强调了从hpv阳性患者的非感染区获得的活检标本中假阴性结果的可能性。

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引用次数: 0

Integrating computational pathology and multi-transcriptomics to characterize glioblastoma heterogeneity and identify prognostic biomarkers 整合计算病理学和多转录组学表征胶质母细胞瘤异质性和确定预后生物标志物。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-11 DOI: 10.1016/j.humpath.2025.105982

Ying Dai , Chenglong Shi , Kai Zhao , Jinshan Tie , Kun Lian , Wenhu Li , Yan Li , Yuhao Wang , Ninghui Zhao

Background

Glioblastoma (GBM) remains a lethal brain cancer with median survival of 12–15 months, hindered by pronounced heterogeneity. Integrating histopathological, molecular, and microenvironmental data is critical for improving outcomes.

Methods

Pathological features from TCGA-GBM whole-slide images were combined with bulk RNA-seq (pan-apoptosis genes), scRNA-seq (monocytes), and spatial transcriptomics. A machine learning model (Lasso + plsRcox) was developed using 60 % training and 40 % validation data.

Results

The prognostic model achieved C-indices of 0.75 (training) and 0.616 (validation). High-risk patients had shorter median survival (14 vs. 28 months; HR = 3.87, P = 0.001). BCL2A1 was identified as a key risk gene (r = 0.42 with risk score) and correlated with poor survival (11 vs. 26 months, P = 0.004) and abnormal nuclear morphology. scRNA-seq revealed BCL2A1+ monocytes (12.3 % of cells) with high stemness and enriched angiogenesis pathways. Spatial analysis showed these monocytes localize at the invasive front (21.4 %) near endothelial cells, promoting VEGF signaling.

Conclusion

Integration of computational pathology and multi-transcriptomic data identified BCL2A1+ monocytes as drivers of angiogenesis and progression. This approach offers a prognostic tool and potential therapeutic targets for GBM.

背景：胶质母细胞瘤（GBM）仍然是一种致命的脑癌，由于明显的异质性，中位生存期为12-15个月。整合组织病理学、分子和微环境数据对于改善预后至关重要。方法：将TCGA-GBM全切片的病理特征与大体积RNA-seq（泛凋亡基因）、scRNA-seq（单核细胞）和空间转录组学相结合。使用60%的训练数据和40%的验证数据开发了机器学习模型（Lasso+plsRcox）。结果：预后模型的c指数分别为0.75（训练）和0.616（验证）。高危患者的中位生存期较短（14个月vs 28个月；HR = 3.87, P = 0.001）。BCL2A1被确定为关键风险基因（r = 0.42，风险评分），与生存差（11个月vs 26个月，P = 0.004）和核形态异常相关。scRNA-seq显示BCL2A1+单核细胞（12.3%的细胞）具有高干性和丰富的血管生成途径。空间分析显示，这些单核细胞定位于内皮细胞附近的侵袭前沿（21.4%），促进VEGF信号传导。结论：综合计算病理学和多转录组学数据，BCL2A1+单核细胞是血管生成和进展的驱动因素。这种方法为GBM提供了一种预后工具和潜在的治疗靶点。

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引用次数: 0

Cytopathologic and histopathologic characteristics of SMARCB1 deficient neoplasm and correlation with molecular and immunohistochemical findings SMARCB1缺陷肿瘤的细胞病理学和组织病理学特征及其与分子和免疫组织化学结果的相关性

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-10 DOI: 10.1016/j.humpath.2025.105980

Sandra Ixchel Sanchez, Christina Adams, Peter Illei, Syed Z. Ali, Lisa Rooper, T. Mamie Lih, Qing Kay Li

Introduction

SMARCB1 deficient neoplasm is an aggressive and heterogeneous group of neoplasms. The morphology of the neoplasm is highly variable. Recent clinical trials show that targeted therapy with EZH2 inhibitor tazemetostat can improve patients’ survival. Thus, it is important to recognize the entity for appropriate clinical management.

Material and methods

The pathology archive was searched over 10-year period for cases with diagnosis of SMARCB1 deficient neoplasm and aberrant expression of SMARCB1 (INI-1). Cyto- and histomorphology, immunohistochemistry (IHC) and molecular findings were characterized.

Results

54 cases with complete loss of SMARCB1 (INI-1) on IHC staining were identified, including 5 serous fluids, 10 fine needle aspirations (FNA), 18 biopsy cores and 21 surgical resections. The median age of patients was 35.8 years, ranging from 14 days to 87 years. The female to male ratio was 1.07:1.00. The most involved anatomic sites in descending order were: head and neck (n = 14), CNS (n = 11), lymph node (n = 8), thorax/lung (n = 6), liver (n = 5) and others (n = 10). In addition to published morphology patterns, characteristic cytomorphology included phenotypic features of poorly differentiated carcinoma with pleomorphic tumor cells, basaloid, rhabdoid or epithelioid sarcomas. These tumors had frequently positive cytokeratin stains. Complex genetic abnormalities were identified, including aberrant SMARCB1/INI-1, PIK3C2B, RAF, MAP3K14, FBXO11 and others. 10 cases of partial loss of SMARCB1 (/INI-1) were also included.

Conclusions

The ancillary testing of SMARCB1 (INI-1) should be considered in a subset of patients whose tumor demonstrates bizarre cytomorphology, especially in poorly differentiated or markedly pleomorphic tumors. The cytological recognition is critical for appropriate management.

SMARCB1缺陷肿瘤是一种侵袭性的异质性肿瘤。肿瘤的形态变化很大。最近的临床试验表明，EHZ2抑制剂他zemetostat靶向治疗可以提高患者的生存率。因此，重要的是要认识到实体适当的临床管理。材料与方法：检索10年来诊断为SMARCB1缺陷肿瘤和SMARCB1 （ni -1）异常表达的病例的病理档案。细胞和组织形态学，免疫组织化学（IHC）和分子结果进行了表征。结果：54例IHC染色SMARCB1 （ni -1）完全丢失，包括5例浆液，10例细针穿刺（FNA）， 18例活检芯，21例手术切除。患者的中位年龄为35.8岁，范围从14天到87岁。男女比例为1.07:1.00。累及最多的解剖部位依次为头颈部（n=14）、中枢神经系统（n=11）、淋巴结（n=8）、胸/肺（n=6）、肝脏（n=5）及其他（n=10）。除了已发表的形态学模式外，特征性细胞形态学包括多形性肿瘤细胞、基底细胞肉瘤、横纹肌肉瘤或上皮样肉瘤的低分化癌的表型特征。这些肿瘤常有细胞角蛋白染色阳性。发现复杂的遗传异常，包括SMARCB1/ ni -1、PIK3C2B、RAF、MAP3K14、FBXO11等异常。SMARCB1 （/ ni -1）部分缺失10例。结论：SMARCB1 （INI-1）的辅助检测应考虑在肿瘤细胞形态异常的患者中，特别是在低分化或明显多形性肿瘤中。细胞学识别对适当的治疗至关重要。

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引用次数: 0

Histomorphological and molecular spectrum of ciliated muconodular papillary tumors with implication for malignant potential: Insights from a literature review and series report 纤毛黏结乳头状肿瘤的组织形态学和分子光谱与潜在的恶性：从文献回顾和系列报告的见解。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-10 DOI: 10.1016/j.humpath.2025.105981

Jieyu Wu, Xina Lin, Dazhou Li, Guihui Tong, Shicui Quan, Dongmei Jiang, Ping He, Xinge Fu

Although the lung ciliated muconodular papillary tumor (CMPT) is defined as a benign tumor by the 5th WHO classification, recent studies have shown that its morphology and genetic alteration may indicate it has undetermined malignant potential. In clinical pathology, CMPT is easily misdiagnosed as mucinous adenocarcinoma; meanwhile, it has been reported to harbor multiple types of gene aberrant. To further study the relation between histomorphology and genetic alterations in CMPT, we collected 15 CMPT patients' surgical samples with analysis of histomorphology, immunohistochemistry (IHC), and gene status. We found CMPT features a double-layered structure with papillary, glandular, and micropapillary formations. IHC typically shows basal cells with p40/p63/CK5/6 expression and TTF-1 immunoreactivity in both luminal and basal cells. Next-generation sequencing showed that two cases harbored anaplastic lymphoma kinase (ALK) rearrangements. A new type of COX7C::ALK rearrangement is firstly revealed in one of our collected cases. One case is overexpressed BRAF (V600E) protein. We further summarized the histomorphology and molecular features of nine previous studies, finding that despite most cases follow an indolent clinical course with no recurrence or metastasis after surgical resection, rare instances of malignant transformation have been reported, underscoring the need for careful pathological evaluation and genetic testing. Our study highlights the importance of recognizing CMPT's distinct histological and molecular features and considering targeted therapies, such as ALK inhibitors, in cases with malignant progression and ALK rearrangements.

虽然肺纤毛黏结乳头状瘤（CMPT）被WHO第五分类定义为良性肿瘤，但最近的研究表明，其形态学和基因改变可能表明其具有不确定的恶性潜能。在临床病理中，CMPT易误诊为粘液腺癌；同时，据报道，它含有多种类型的基因异常。为了进一步研究CMPT的组织形态学与基因改变的关系，我们收集了15例CMPT患者的手术样本，进行了组织形态学、免疫组化（IHC）和基因状态的分析。我们发现CMPT具有双层结构，包括乳头状、腺状和微乳头状结构。免疫组化通常显示基底细胞中p40/p63/CK5/6的表达和TTF-1的免疫反应性。新一代测序结果显示，2例患者存在间变性淋巴瘤激酶（ALK）重排。在我们收集的一个病例中首次发现了一种新的COX7C::ALK重排。1例为BRAF （V600E）蛋白过表达。我们进一步总结了先前9项研究的组织形态学和分子特征，发现尽管大多数病例在手术切除后无复发或转移，但罕见的恶性转化病例已被报道，强调需要仔细的病理评估和基因检测。我们的研究强调了认识CMPT独特的组织学和分子特征的重要性，并考虑在恶性进展和ALK重排的情况下进行靶向治疗，如ALK抑制剂。

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引用次数: 0

Penile cysts: A review of clinicopathological features and differential diagnosis 阴茎囊肿：临床病理特征和鉴别诊断综述。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-01 DOI: 10.1016/j.humpath.2025.105822

Roselyne Choiniere , Jeffrey Damman, Geert J.L.H. van Leenders

Uncommon and seldom discussed in the literature, the diagnosis of penile cysts relies on morphology and clinical correlation. In this review, we provide a comprehensive overview of the clinicopathological features and differential diagnosis of benign cysts encountered on penile glans, foreskin and shaft. We discuss in more detail the median raphe cyst with its many names and patterns. The aim of this review is to outline the diagnostic considerations and provide practical guidance for pathologists in diagnosing benign penile cysts.

阴茎囊肿的诊断依赖于形态学和临床相关性，在文献中罕见且很少讨论。在这篇综述中，我们提供了全面的临床病理特点和鉴别诊断遇到的良性囊肿阴茎头，包皮和轴。我们更详细地讨论中缝囊肿的许多名称和模式。本综述的目的是概述诊断注意事项，并提供实用的指导病理学家在诊断良性阴茎囊肿。

引用次数: 0

Loss of androgen receptor expression is associated with aggressive tumor features and reduced survival in breast cancer patients 雄激素受体表达的缺失与乳腺癌患者的侵袭性肿瘤特征和生存率降低有关。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-01 DOI: 10.1016/j.humpath.2025.105956

Ingunn M. Stefansson , Gøril Knutsvik , Jarle Arnes , Karin Collett , Cecilie Askeland , Lars A. Akslen

Androgen receptor (AR) is reported to be expressed in the majority of breast cancers (BC) with different expression rates across breast cancer subtypes. AR might influence cell proliferation, DNA damage repair, apoptosis, cellular migration and metastasis. The prognostic role of AR varies significantly across breast cancer subtypes. Here, we studied the expression pattern and prognostic relevance of AR in BC, with special focus on molecular stratification. We analyzed a large population-based cohort of breast carcinomas with long and complete follow up. AR expression was evaluated by immuno-histochemistry on tissue microarray slides. Loss of AR was significantly associated with features indicative of poor prognosis (larger tumor diameter, higher histologic grade, estrogen (ER) and progesterone hormone (PR) receptor negativity, elevated proliferation by Ki67, and expression of basal markers). Also, expression of AR was associated with lower proliferation by Ki67 regardless of ER-status. Regarding survival, loss of AR was significantly correlated with decreased breast cancer-specific survival in univariate analysis, both in the overall cohort and within the Luminal A and basal-like (CK5/6+) subgroups. In summary, AR expression emerged as a favorable prognostic factor in breast cancer, demonstrating independent prognostic significance within the basal-like (CK5/6+) subgroup.

据报道，雄激素受体（AR）在大多数乳腺癌（BC）中表达，但在乳腺癌亚型中表达率不同。AR可能影响细胞增殖、DNA损伤修复、细胞凋亡、细胞迁移和转移。乳腺癌亚型中AR的预后作用差异显著。在这里，我们研究了AR在BC中的表达模式和预后相关性，特别关注分子分层。我们分析了一个以人群为基础的乳腺癌队列，并进行了长期和完整的随访。在组织芯片载玻片上用免疫组化方法检测AR表达。AR缺失与预后不良的特征（肿瘤直径较大、组织学分级较高、雌激素（ER）和孕激素（PR）受体阴性、Ki67增殖升高、基础标志物表达）显著相关。此外，无论er状态如何，AR的表达与Ki67的低增殖有关。关于生存率，单因素分析显示，无论是在整个队列中，还是在Luminal A和基底样（CK5/6+）亚组中，AR的丧失与乳腺癌特异性生存率的降低显著相关。综上所述，AR表达在乳腺癌中是一个有利的预后因素，在基底样（CK5/6+）亚组中显示出独立的预后意义。

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引用次数: 0

Genomic aberration detection by fluorescence in situ hybridization 荧光原位杂交检测基因组畸变。

IF 2.6 2区医学 Q2 PATHOLOGY

Human pathology

Pub Date : 2025-11-01 DOI: 10.1016/j.humpath.2025.105906

Liang Cheng , Darrell D. Davidson , Shaobo Zhang

Fluorescence in situ hybridization (FISH) is a simple, rapid, and reliable method for detecting genomic alterations relevant to a wide range of diseases, particularly neoplastic disorders, using routine surgical and cytological specimens. By employing fluorescent-labeled nucleic acid or nucleotide analog probes to target specific DNA sequences on chromosomes, FISH facilitates accurate diagnosis, tumor classification, biomarker identification, selection of targeted therapies, and monitoring of treatment efficacy. As the technology continues to evolve, the demand for FISH is expected to grow, given its cost-effectiveness in supporting diagnostic and therapeutic decisions. However, to fully leverage the potential of this powerful technique, it is essential to be mindful of its underlying chemistry, potential artifacts, interpretive challenges, and the broader clinical context. This article provides an overview of the fundamental principles of FISH data analysis, addresses technical considerations and implementation challenges, and discusses diagnostic criteria, cutoff values, quality control measures, test validation processes, and interpretation of results - with a focus on its application in daily surgical pathology practice.

荧光原位杂交（FISH）是一种简单、快速、可靠的方法，用于检测与多种疾病相关的基因组改变，特别是肿瘤疾病，使用常规手术和细胞学标本。FISH采用荧光标记的核酸或核苷酸类似物探针靶向染色体上的特定DNA序列，有助于准确诊断、肿瘤分类、生物标志物鉴定、靶向治疗的选择和治疗效果的监测。随着技术的不断发展，鉴于FISH在支持诊断和治疗决策方面的成本效益，预计对其的需求将会增长。然而，为了充分利用这一强大技术的潜力，必须注意其潜在的化学成分、潜在的人工制品、解释挑战和更广泛的临床背景。本文概述了FISH数据分析的基本原理，解决了技术考虑和实施挑战，并讨论了诊断标准、截止值、质量控制措施、测试验证过程和结果解释，重点介绍了其在日常外科病理实践中的应用。

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