Human Pathology Reports最新文献

Expression of p16INK4a and its clinicopathological and survival outcomes in cholangiocarcinoma: A retrospective cohort study p16INK4a在胆管癌中的表达及其临床病理和生存结局：一项回顾性队列研究

Human Pathology Reports

Pub Date : 2026-01-26 DOI: 10.1016/j.hpr.2026.300819

Porramate Khaikhuayart, Prakasit Sa-ngiamwibool

Background

Cholangiocarcinoma (CCA) is an aggressive adenocarcinoma arising from the epithelium of intrahepatic and extrahepatic bile ducts with distinct growth patterns. CCA is associated with poor clinical outcomes. The CDKN2A and one of its protein products, p16INK4a, which is frequently downregulated in CCA, may contribute to disease pathogenesis.

Objective

To evaluate the prognostic significance of p16INK4a expression using immunohistochemistry in CCA patients and analyze its correlation with clinicopathological parameters.

Methods

A retrospective cohort study analyzing 180 CCA patients diagnosed at Srinagarind Hospital, Khon Kaen, Thailand, between 2017 and 2023.

Results

Positive/high p16INK4a expression was detected in 61 cases (33.9 %) and showed association with mixed tumor growth patterns (p = 0.041). While p16INK4a expression did not significantly impact overall survival in Kaplan–Meier analysis (p = 0.745), the patients with positive/high expression showed a trend toward shorter median survival time compared to that of the negative/low expression group (13 vs. 18 months, p = 0.015).

Conclusion

p16INK4a expression is not independently associated with survival, however high expression is associated with histologically mixed growth patterns and might influence tumor differentiation in CCA. These results suggest p16INK4a may contribute to CCA progression, particularly in complex growth patterns and poor differentiation. Further study is warranted to fully elucidate its clinical significance and potential therapeutic implications.

胆管癌（CCA）是一种起源于肝内和肝外胆管上皮的侵袭性腺癌，具有独特的生长模式。CCA与不良临床结果相关。CDKN2A及其蛋白产物之一p16INK4a在CCA中经常下调，可能有助于疾病的发病机制。目的应用免疫组化方法评价p16INK4a表达对CCA患者预后的意义，并分析其与临床病理参数的相关性。方法回顾性队列研究，分析2017年至2023年在泰国孔敬县斯利那加林医院诊断的180例CCA患者。结果p16INK4a阳性/高表达61例（33.9%），与肿瘤混合生长模式相关（p = 0.041）。Kaplan-Meier分析显示，p16INK4a表达对总生存期没有显著影响（p = 0.745），但与阴性/低表达组相比，阳性/高表达组患者的中位生存期有缩短的趋势（13个月对18个月，p = 0.015）。结论p16ink4a的表达与CCA的生存无关，但高表达与组织学上的混合生长模式有关，可能影响CCA的肿瘤分化。这些结果表明p16INK4a可能有助于CCA的进展，特别是在复杂的生长模式和分化不良的情况下。需要进一步的研究来充分阐明其临床意义和潜在的治疗意义。

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引用次数: 0

Intraductal carcinoma prevalence in prostatectomy specimens: a cross-institutional comparison between a Japanese and a Hawaiian cohort 导管内癌在前列腺切除术标本中的患病率：日本和夏威夷队列的跨机构比较

Human Pathology Reports

Pub Date : 2026-01-24 DOI: 10.1016/j.hpr.2026.300818

Motoki Yamagishi , Casey M. Phan , Yoshihiro Nakagami , Akiko Tokunaga , So Murai , Toshiko Yamochi , Kazuhiko Oshinomi , Masakazu Nagata , Takashi Fukagai

Objective

Intraductal carcinoma of the prostate (IDCP) is associated with poor prognosis, including biochemical recurrence and resistance to hormonal therapy. However, the consistency of IDCP prevalence across racial groups and institutions remains uncertain. This study aimed to compare the prevalence of IDCP in radical prostatectomy specimens between Showa Medical University Hospital (SUH, Japan) and Queen’s Medical Center (QMC, Hawaii) using standardized diagnostic criteria, with a focus on potential racial disparities.

Methods

We retrospectively analyzed 165 radical prostatectomy cases from SUH and 114 cases from QMC between April 2020 and March 2024. Patients with prior hormonal therapy or missing slides were excluded. All specimens were assessed for IDCP by experienced uropathologists using the Guo and Epstein histopathologic criteria, primarily with hematoxylin and eosin (H&E) staining and immunohistochemistry as needed. Statistical analyses included chi-square tests, logistic regression, and propensity score matching to adjust for background differences.

Results

The prevalence of IDCP was 23.0% at SUH and 28.3% at QMC (p = 0.34). No significant differences were observed among ethnic groups within QMC. After propensity score matching, prevalence remained statistically similar (p = 0.09). Extraprostatic extension (EPE) was identified as the only independent risk factor for IDCP positivity (p < 0.05).

Conclusions

Using the standardized Guo and Epstein diagnostic criteria, no significant racial or institutional differences in IDCP prevalence were observed. These findings highlight the reproducibility of standardized diagnostic frameworks and underscore the importance of further investigations into genetic and environmental factors influencing IDCP.

目的前列腺导管内癌（IDCP）预后较差，包括生化复发和激素治疗抵抗。然而，跨种族群体和机构的IDCP患病率的一致性仍然不确定。本研究旨在比较昭和医科大学医院（SUH，日本）和皇后医学中心（QMC，夏威夷）根治性前列腺切除术标本中IDCP的患病率，采用标准化诊断标准，重点关注潜在的种族差异。方法回顾性分析2020年4月至2024年3月期间165例SUH根治性前列腺切除术和114例QMC根治性前列腺切除术。排除既往有激素治疗或缺失玻片的患者。所有标本均由经验丰富的泌尿病理学家使用Guo和Epstein组织病理学标准进行IDCP评估，主要采用苏木精和伊红（H&；E）染色和免疫组织化学。统计分析包括卡方检验、逻辑回归和倾向评分匹配，以调整背景差异。结果SUH组IDCP患病率为23.0%，QMC组为28.3% （p = 0.34）。QMC内各民族间无显著差异。倾向评分匹配后，患病率保持统计学相似（p = 0.09）。前列腺外展（EPE）是IDCP阳性的唯一独立危险因素（p < 0.05）。结论采用标准化的Guo和Epstein诊断标准，IDCP患病率没有明显的种族和制度差异。这些发现突出了标准化诊断框架的可重复性，并强调了进一步调查影响IDCP的遗传和环境因素的重要性。

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引用次数: 0

Pilomatrix-like high-grade carcinoma involving the urinary bladder: identification of APC mutation and potential for TROP-2 targeted therapy 涉及膀胱的毛基质样高级别癌：APC突变的鉴定和TROP-2靶向治疗的潜力

Human Pathology Reports

Pub Date : 2026-01-18 DOI: 10.1016/j.hpr.2026.300817

Hossein Hosseini , Omar Alhalabi , Charles C. Guo , Julian Bryan , Bogdan A. Czerniak , Preetha Ramalingam , Elizabeth D. Euscher , Donna E. Hansel

This case report describes a 60-year-old female patient who presented with gross hematuria and a deeply invasive bladder mass. The carcinoma was characterized by basaloid nests, geographic necrosis, and shadow cells. The tumor cells were diffusely positive for CDX2 and beta-catenin (nuclear and cytoplasmic staining), focally positive for CK7, CK20, and CD56, and negative for GATA-3, synaptophysin, mammaglobin, TTF-1, and NUT. The overall morphological features and immunohistochemical findings were most consistent with pilomatrix-like high-grade carcinoma (PiMLC). Evaluation of the gynecological tract at the time of cystectomy, including accompanying hysterectomy and bilateral salpingo-oophorectomy specimen, did not reveal any carcinoma within these organs. Genomic profiling of the tumor revealed loss-of-function mutations in APC, ASXL1, RB1, and TP53. Although CTNNB1 was not altered, the APC mutation suggests deregulation of the Wnt signaling pathway through a process distinct from most pilomatrix-like high-grade carcinomas of the gynecological tract. Over the course of her therapy at an outside institution, the patient progressed to widely disseminated metastatic disease, including to the lungs and brain, that was unresponsive to multiple rounds of chemotherapy and immunotherapy. RNA profiling of her tumor revealed expression of TROP-2, confirmed by immunohistochemistry, and therapy with an antibody drug conjugate targeting TROP-2 resulted in a significant reduction in tumor burden. This case describes PiMLC involving the urinary bladder and highlights both an alternative activation of the Wnt signaling pathway in this tumor type, as well as a potential new treatment avenue for this frequently therapeutically unresponsive cancer type.

本病例报告描述了一位60岁的女性患者，其表现为肉眼血尿和深度侵入性膀胱肿块。肿瘤以基底样细胞巢、地域性坏死和阴影细胞为特征。肿瘤细胞CDX2和β -连环蛋白弥散性阳性（核和细胞质染色），CK7、CK20和CD56局部阳性，GATA-3、synaptophysin、mammaglobin、TTF-1和NUT阴性。总体形态学特征和免疫组化结果与毛基质样高级别癌（PiMLC）最为一致。在膀胱切除术时对妇科道进行评估，包括伴随的子宫切除术和双侧输卵管-卵巢切除术标本，未发现这些器官内有任何癌。肿瘤的基因组分析显示APC、ASXL1、RB1和TP53的功能缺失突变。尽管CTNNB1未发生改变，但APC突变提示Wnt信号通路的失调，其过程与大多数妇科导管的毛基质样高级别癌不同。在外部机构的治疗过程中，患者发展为广泛扩散的转移性疾病，包括肺和脑，对多轮化疗和免疫治疗无反应。她的肿瘤RNA谱显示TROP-2表达，免疫组织化学证实，靶向TROP-2的抗体药物偶联治疗导致肿瘤负担显著减轻。本病例描述了涉及膀胱的PiMLC，并强调了这种肿瘤类型中Wnt信号通路的另一种激活，以及这种经常治疗无反应的癌症类型的潜在新治疗途径。

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引用次数: 0

A unique presentation of multiple synchronous tumors in a patient with POT1 tumor predisposition syndrome POT1肿瘤易感综合征患者多发性同步肿瘤的独特表现

Human Pathology Reports

Pub Date : 2026-01-10 DOI: 10.1016/j.hpr.2025.300814

Wangpan Shi , Mitchell Zhao , Dong Ren , Frederick Millard , Jason K. Sicklick , Haiyan Zhang

POT1 (Protection of Telomeres 1) is a gene on chromosome 7 that is essential for telomere stability. Germline mutations in POT1 are well recognized for conferring a lifelong risk of various malignancies. We present a 63-year-old female who developed a sudden cough and was found to have a large adrenal mass abutting adjacent organs, along with an incidental pancreatic lesion. Her medical history was significant for renal cancer, uterine carcinosarcoma, pituitary adenoma, and chronic lymphocytic leukemia (CLL). Next-generation sequencing identified a pathogenic germline mutation in POT1 (c.854_855del (p.Val285Glyfs*27)). Microscopically, the adrenal mass showed tumor cells arranged in sheets and nests with high-grade nuclei and abundant cytoplasm. Immunohistochemistry (IHC) study showed diffuse AE1/AE3 positivity but was negative for markers of other metastatic carcinomas or melanoma. Given the unusual immunoprofile and clinical history, SF-1 was performed and was diffusely positive, confirming the diagnosis of adrenal cortical carcinoma. The pancreatic lesion was composed of well-formed nests of tumor cells with speckled chromatin in a background of lymphocyte aggregates. Synaptophysin was positive in the tumor nests, and the lymphoid component was positive for CD5, CD23, and CD20, while negative for CD3. The findings supported a diagnosis of a well-differentiated neuroendocrine tumor involved by small cell lymphoma. Retrospectively, similar lymphoma cells were also identified in the adrenal mass. Overall, this is the first case report describing a unique malignancy profile in patient with POT1 tumor predisposition syndrome, highlighting the diagnostic challenge posed by diffuse cytokeratin positivity in adrenal cortical carcinoma.

POT1（保护端粒1）是染色体7上的一个基因，对端粒的稳定性至关重要。POT1的种系突变被公认为具有各种恶性肿瘤的终身风险。我们报告一位63岁的女性，她突然咳嗽，发现邻近器官有一个大的肾上腺肿块，并伴有偶然的胰腺病变。她的病史有肾癌、子宫癌肉瘤、垂体腺瘤和慢性淋巴细胞白血病（CLL）。下一代测序鉴定了POT1的致病种系突变（c.854_855del (p.Val285Glyfs*27)）。肾上腺肿块镜下可见肿瘤细胞呈片状、巢状排列，细胞核高级别，胞质丰富。免疫组化（IHC）研究显示弥漫AE1/AE3阳性，但其他转移性癌或黑色素瘤标志物阴性。考虑到异常的免疫特征和临床病史，SF-1检查呈弥漫性阳性，证实肾上腺皮质癌的诊断。胰腺病变由形成良好的肿瘤细胞巢和斑点状染色质组成，背景是淋巴细胞聚集。Synaptophysin在肿瘤巢中呈阳性，淋巴成分CD5、CD23、CD20呈阳性，CD3呈阴性。结果支持诊断为分化良好的神经内分泌肿瘤伴小细胞淋巴瘤。回顾性分析，在肾上腺肿块中也发现了类似的淋巴瘤细胞。总的来说，这是第一个描述POT1肿瘤易感综合征患者独特恶性肿瘤特征的病例报告，突出了肾上腺皮质癌弥漫性细胞角蛋白阳性带来的诊断挑战。

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引用次数: 0

Primary adenosquamous carcinoma of the appendix with genomic profiling of the adenocarcinoma and squamous cell carcinoma components using next-generation sequencing 阑尾原发性腺鳞癌与腺癌和鳞状细胞癌成分的基因组谱分析使用下一代测序

Human Pathology Reports

Pub Date : 2026-01-09 DOI: 10.1016/j.hpr.2026.300816

Sara Bohjanen, Areeba H. Rizvi, Kevin Turner, Andrew C. Nelson, Khalid Amin

Adenosquamous carcinoma (ASC) is characterized by the presence of adenocarcinoma and squamous cell carcinoma components in one tumor. Primary appendiceal ASC is extremely rare, and only 7 cases have been reported in the medical literature. We present a case of primary appendiceal ASC, where both tumor components were subjected to next-generation sequencing. Both components shared the same BRAF, TP53, PLCG2, and RUNX1 variants, but only the adenocarcinoma component demonstrated a mutation in the SMAD4 gene. This suggests appendiceal ASC components may diverge from a shared evolutionary clone. We then discuss the therapeutic implications of our findings. To our knowledge, this is the first next-generation sequencing analysis performed on appendiceal ASC.

腺鳞癌（ASC）的特点是在一个肿瘤中存在腺癌和鳞状细胞癌成分。原发性阑尾ASC极为罕见，医学文献中仅报道了7例。我们提出了一例原发性阑尾ASC，其中两种肿瘤成分都进行了下一代测序。这两种成分具有相同的BRAF、TP53、PLCG2和RUNX1变体，但只有腺癌成分在SMAD4基因中表现出突变。这表明阑尾ASC成分可能来自一个共同的进化克隆。然后我们讨论我们的发现的治疗意义。据我们所知，这是第一次对阑尾ASC进行下一代测序分析。

引用次数: 0

Mixed neuroendocrine-non-neuroendocrine neoplasm (MiNEN) of the cervix in a 38-year-old female: a case report and review of literature 38岁女性宫颈混合性神经内分泌-非神经内分泌肿瘤1例并文献复习

Human Pathology Reports

Pub Date : 2026-01-06 DOI: 10.1016/j.hpr.2026.300815

Josh Matthew B. Chen , Denise B. Andal , Benedict Jose P. Canora , Claire Anne Therese M. Hemedez

Background

Mixed neuroendocrine non-neuroendocrine neoplasm (MiNEN) in the cervix constitutes <1 % of all gynecological malignancies. Despite its rarity, they are highly aggressive often presenting with early nodal metastasis and distant metastasis and have poor prognosis. Due to its limited incidence, early recognition with prompt diagnosis and early therapeutic intervention are of utmost importance.

Case presentation

Here, we present a case of a 38-year old female with episodes of post-coital spotting. Microscopically, two different populations of tumor cells were appreciated − the first is composed of sheets of fairly uniform small cells with hyperchromatic nuclei, indistinct nuclear contour and scant cytoplasm and the second consists of infiltrating glands with enlarged, ovoid, hyperchromatic nuclei with coarse chromatin and ample eosinophilic cytoplasm. Immunohistochemistry studies were done showing positivity for Chromogranin, Synaptophysin, and p16, while CEA highlighted the glandular component, hence the diagnosis of Mixed Neuroendocrine and Non-Neuroendocrine Carcinoma (Small Cell Carcinoma and HPV-Associated Type Adenocarcinoma) was made.

Conclusion

Due to its poor prognosis, clinical, imaging, and histopathologic correlation as well as prudent utilization of immunohistochemical stains are vital in arriving at a diagnosis and initiation of treatment. Currently, there is no standard therapeutic approach for MiNEN and as a result, multimodal treatment strategies are employed to enhance survival outcomes.

背景：宫颈混合性神经内分泌非神经内分泌肿瘤（MiNEN）占所有妇科恶性肿瘤的1%。尽管罕见，但其侵袭性很强，常表现为早期淋巴结转移和远处转移，预后差。由于其发病率有限，早期识别，及时诊断和早期治疗干预至关重要。病例介绍在此，我们报告一例38岁女性性交后点滴发作。显微镜下观察到两种不同的肿瘤细胞群：第一种是由相当均匀的小细胞片组成，细胞核深染，细胞核轮廓不清，细胞质稀少；第二种是浸润性腺体，细胞核增大，卵球形，深染，染色质粗，细胞质丰富。免疫组化检查显示嗜铬粒蛋白、Synaptophysin和p16阳性，而CEA强调腺成分，因此诊断为神经内分泌和非神经内分泌混合型癌（小细胞癌和hpv相关型腺癌）。结论由于预后不良，临床、影像学和组织病理学的相关性以及谨慎使用免疫组织化学染色对诊断和开始治疗至关重要。目前，对于MiNEN没有标准的治疗方法，因此，采用多模式治疗策略来提高生存结果。

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引用次数: 0

A unique case of follicular large B-cell lymphoma arising in the background of thymic follicular hyperplasia 以胸腺滤泡增生为背景的滤泡性大b细胞淋巴瘤一例

Human Pathology Reports

Pub Date : 2025-12-12 DOI: 10.1016/j.hpr.2025.300810

Gord Guo Zhu , Tina B. Edmonston , Eric Behling , Roland Schwarting

Follicular large B-cell lymphoma (FLBCL) is an aggressive variant of follicular lymphoma, rarely reported at extranodal sites. We describe, to our knowledge, the first case of FLBCL arising in a background of thymic follicular hyperplasia (TFH). A 76-year-old man undergoing evaluation for cardiac surgery was incidentally found to have a mediastinal mass, which revealed thymic tissue with prominent TFH on resection. Within this TFH background, follicles with sheets of centroblasts and brisk mitotic activity and a “starry sky” pattern were identified. Immunohistochemistry confirmed germinal center B-cell phenotype (CD20, CD10, BCL6, weak BCL2) with a Ki-67 > 90 %. Molecular studies demonstrated a clonal IGK rearrangement, IGH::MYC fusion, and DDX3X mutation, while hyperplastic areas lacked clonal rearrangements. This case highlights the thymus as a rare site of B-cell lymphomagenesis and underscores the importance of recognizing FLBCL in unusual locations.

滤泡性大b细胞淋巴瘤（FLBCL）是一种侵袭性滤泡性淋巴瘤，很少在结外部位报道。我们描述，据我们所知，在胸腺滤泡增生（TFH）的背景下出现的第一例FLBCL。一位76岁的男性在接受心脏手术评估时偶然发现有纵隔肿块，切除后发现胸腺组织有明显的TFH。在这种TFH背景下，鉴定出具有成丝细胞片和活跃的有丝分裂活性和“星空”模式的卵泡。免疫组织化学证实生发中心b细胞表型（CD20, CD10, BCL6，弱BCL2）， Ki-67 > 90%。分子研究证实了克隆性IGK重排、IGH::MYC融合和DDX3X突变，而增生区域缺乏克隆性重排。这个病例强调了胸腺是一个罕见的b细胞淋巴瘤发生部位，并强调了在不寻常部位识别FLBCL的重要性。

引用次数: 0

Genetic and structural changes leading to symptomatic Currarino syndrome – case presentation with re-analyzation of 102 cases of MNX1 genetic change 遗传和结构改变导致症状性Currarino综合征——102例MNX1基因改变的病例介绍和再分析

Human Pathology Reports

Pub Date : 2025-12-12 DOI: 10.1016/j.hpr.2025.300809

Hironobu Okuyama, Kiyotaka Yokogami, Shinji Yamashita, Yoshiko Okita

Currarino syndrome is a rare congenital disorder characterized by a triad of presacral mass, sacral agenesis, and anorectal malformation. We report a case of Currarino syndrome with heterozygous in-frame deletion in homeobox of MNX1 gene. Currarino syndrome is an autosomal-dominant inheritance, and many cases of MNX1 mutations have been reported, but there are no reports of symptomatic with heterozygous in-frame deletions in sporadic cases.　We downloaded the MNX1 data from open database ClinVar-NCBI. After adding seven literature reports not included in the database with present case, we re-analyzed the mutation type, location and symptoms. Among 81 cases with gene mutations upstream of homeobox, structural changes in homeobox were observed in 39 of 41 symptomatic cases (95.1%), while in only 1 of 40 asymptomatic cases (2.5%). This finding indicates that structural changes in the homeobox of the MNX1 gene are significantly involved in whether Currarino syndrome becomes symptomatic.

Currarino综合征是一种罕见的先天性疾病，以骶前肿块、骶骨发育不全和肛肠畸形为特征。我们报告一例伴有MNX1基因同型框内杂合缺失的Currarino综合征。Currarino综合征是一种常染色体显性遗传，许多MNX1突变病例已被报道，但在散发性病例中未见伴有杂合子框内缺失的症状报道。我们从开放数据库ClinVar-NCBI中下载MNX1数据。在加入本病例数据库中未包含的7篇文献报告后，我们重新分析了突变类型、位置和症状。在同源盒上游基因突变的81例病例中，41例有症状的病例中有39例（95.1%）出现同源盒结构改变，而40例无症状的病例中仅有1例（2.5%）出现同源盒结构改变。这一发现表明，MNX1基因同源盒的结构变化与Currarino综合征是否出现症状有重要关系。

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引用次数: 0

A large and predominantly cystic breast adenomyoepithelioma in a 35-year-old female: A rare case report and mini review of literature 一例35岁女性大且以囊性为主的乳腺腺肌瘤：一例罕见病例报告及文献复习

Human Pathology Reports

Pub Date : 2025-12-06 DOI: 10.1016/j.hpr.2025.300811

Birhanu Kassie Reta , Demelash Darota Dojamo , Melaku Abay Muluneh , Seblewengel Maru Wubalem , Musie Negasi Gebreslase , Menal Hassen Abdella , Seyoum Berihun Derbew , Dori Woldu , Gebrehiwot Teklehaimanot Gebrezgabher

Introduction

Adenomyoepithelioma (AME) of the breast is a very rare biphasic tumor composed of epithelial and myoepithelial cells in varying proportions. Usually present as a circumscribed solid nodule, with rare occurrences of cystic or papillary areas. AME with a prominent cystic feature is extremely rare. This case report is aimed at emphasizing that AMEs can entirely be cystic, so that radiologists and pathologists should consider it as a possibility whenever they encounter a cystic breast lesion.

Case presentation

A 35-year-old woman presented with a painful breast lump of six months’ duration. A breast ultrasound scan revealed a 9 cm multilocular cystic mass with a focal area of solid masses arising from the cyst wall projecting into the cyst cavity. Initial fine needle aspiration cytology (FNAC) was non-diagnostic since the aspirate was only cyst content. Later the ultrasound-guided FNAC suggested AME. Complete excision of the mass with a wide margin was done, and subsequent histopathologic examination and immunohistochemistry confirmed the diagnosis of benign AME with free margins.

Conclusion

Even though it is extremely rare, AME may appear predominantly cystic with a focal solid area. Preoperative FNAC should be done with ultrasound guidance to make sure the solid area is sampled. AME should be considered in the list of differential diagnoses for cystic breast lesions.

乳腺腺肌瘤（AME）是一种非常罕见的双相肿瘤，由不同比例的上皮细胞和肌上皮细胞组成。通常表现为有边界的实性结节，罕见出现囊性或乳头状区。AME伴明显囊性特征极为罕见。本病例报告旨在强调AMEs可以完全是囊性的，因此放射科医生和病理学家在遇到乳腺囊性病变时应将其作为一种可能性来考虑。病例介绍一名35岁女性，因乳房肿块疼痛6个月。乳房超声扫描显示一个9厘米的多房性囊性肿块，囊肿壁的病灶实性肿块向囊肿腔内突出。最初的细针抽吸细胞学检查（FNAC）不能诊断，因为抽吸物只是囊肿内容物。后来超声引导的FNAC建议AME。我们完全切除了肿物，并进行了组织病理学检查和免疫组织化学检查，证实了良性AME伴游离边缘的诊断。结论尽管极为罕见，AME也可能以囊性为主，伴病灶实性区。术前FNAC应在超声引导下进行，以确保实区取样。乳腺囊性病变的鉴别诊断应考虑AME。

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引用次数: 0

Pediatric erythroblastic sarcoma/pure erythroid leukemia with NFIA-CBFA2T3 translocation: Report of two cases, including a case with TP53 mutation, and review of the literature 小儿红母细胞肉瘤/纯红系白血病合并NFIA-CBFA2T3易位：报告2例，包括1例TP53突变，并复习文献

Human Pathology Reports

Pub Date : 2025-11-01 DOI: 10.1016/j.hpr.2025.300803

Antonello Cardoni , Evelina Rogges , Sabrina Rossi , Rita De Vito , Emma Rullo , Silvia Vallese , Sabina Barresi , Isabella Giovannoni , Chantal Tancredi , Viola Alesi , Aurore Coulomb , Valeria Ceolin , Francesco Saglio , Marco Leone , Franca Fagioli , Solenne Le Louet , Arnaud Petit , Sabah Boudjemaa , Rita Alaggio

Pure erythroid leukemia is a rare neoplasm that occurs predominantly in adults, mostly as secondary to cytotoxic chemotherapy and frequently with biallelic TP53 abnormalities. Reports in pediatric patients are even rarer and show neoplasm arising “de novo”, frequent extramedullary sarcomatous presentation and a different molecular profile from the adult counterpart, including frequent gene fusions and no evidence of biallelic TP53 alterations. We describe two cases of pediatric erythroid leukemia / sarcoma with the NFIA::CBFA2T3 fusion, one of which harbored a TP53 mutation, with a review of the literature of pediatric cases with the same fusion and with the analogous NFIA::CBFA2T1 fusion.

纯红细胞白血病是一种罕见的肿瘤，主要发生于成人，主要继发于细胞毒性化疗，经常伴有双等位基因TP53异常。儿科患者的报告甚至更少，并且显示肿瘤“从头开始”，经常出现髓外肉瘤，并且与成人对应的分子谱不同，包括频繁的基因融合和无双等位基因TP53改变的证据。我们描述了两例儿童红细胞白血病/肉瘤的NFIA::CBFA2T3融合，其中一例携带TP53突变，并回顾了儿童病例的相同融合和类似的NFIA::CBFA2T1融合的文献。

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引用次数: 0