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Impact of limb ischemic preconditioning on the incidence of vein thrombosis in patients with peripherally inserted central catheter.
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-11-14 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611596
Han Zhao, Changhua Kou, Hao Zhao, Qing Liu, Maosheng He, Cong Wang, Saisai Zhu, Li Ma, Yun Wang

Background: Peripherally inserted central catheters (PICC) are increasingly used in clinical practice, which also leads to an increased incidence of PICC-related thrombosis. Local thrombus formation could be prevented by limb ischemic preconditioning (IPC). This study aimed to determine whether IPC can prevent deep vein thrombosis in patients with PICC.

Methods: A total of 600 breast cancer patients receiving PICC were randomized into two groups between July 2016 and July 2018 at the Department of Radiation Oncology. In the preconditioning group, 5 min of ischemic preconditioning was performed three times before PICC, whereas no preconditioning was performed in the sham group. The coagulation function levels, the PICC-related complications, the length of hospital stay, the cost of hospitalization, and the satisfaction of patients were compared.

Results: The coagulation function levels of patients in the preconditioning group were more normal than in patients from the sham group. In total, 56/300 patients in the sham group had presence of PICC-related thrombosis, with only 23/300 in the IPC group, with no significant difference in other complications between the two groups. However, a longer hospital stay was observed in the sham group compared to the IPC group. Moreover, the cost of hospitalization was also reduced in the IPC group, which also improved the satisfaction of patients.

Conclusion: Limb ischemic preconditioning may attenuate the severity of vein thrombosis in patients with PICC, which contributes to reducing the incidence of PICC-related thrombosis in clinical practice.

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引用次数: 0
Retraction: The Plasmodium circumsporozoite protein, a novel NF-κB inhibitor, suppresses the growth of SW480. 撤回:疟原虫环孢子虫蛋白是一种新型 NF-κB 抑制剂,可抑制 SW480 的生长。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-11-12 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1612018

[This retracts the article DOI: 10.1007/s12253-012-9519-7.].

[本文撤回了文章 DOI:10.1007/s12253-012-9519-7]。
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引用次数: 0
Case report: A rare case of oral sebaceous carcinoma in the upper lip. 病例报告:一例罕见的上唇口腔皮脂腺癌。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-11-08 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611968
Yousef Katib, Murad Essatari

Sebaceous carcinoma (SC) is a rare aggressive malignant tumor that originates in the adnexal epithelium of the sebaceous gland. While occurrences on the lips are extremely uncommon, there have been a few reported cases in the literature. Our case involves a 47-year-old smoker male who presented with a painless, non-mobile lesion on his upper lip that had been present for 12 months. Upon clinical examination, an ulcerated, exophytic, and irregularly shaped mass was observed on the upper lip. No other intraoral lesions were found. An incisional biopsy was performed, revealing a malignant tumor with a nodular pattern consisting of basaloid cells with obvious sebaceous differentiations and frequent mitoses. The neoplastic cells tested positive for broad-spectrum cytokeratin (AE1-AE3), epithelial membrane antigen (EMA), and P53, while testing negative for S-100 and carcinoembryonic antigen (CEA). Based on these results, a diagnosis of SC of the upper lip was made. This case report and review aimed to describe the histogenesis, unique clinicopathological features, and current treatment options for SC.

皮脂腺癌(SC)是一种罕见的侵袭性恶性肿瘤,起源于皮脂腺的附属上皮。虽然发生在嘴唇上的病例极为罕见,但文献中也有少数病例报道。我们的病例涉及一名 47 岁的男性吸烟者,他的上唇出现无痛、不活动的病变已有 12 个月。经临床检查,发现上唇有一个溃疡性、外生性、形状不规则的肿块。口腔内未发现其他病变。进行切口活检后,发现这是一个恶性肿瘤,肿瘤呈结节状,由基底细胞组成,具有明显的皮脂腺分化和频繁的有丝分裂。肿瘤细胞的广谱细胞角蛋白(AE1-AE3)、上皮膜抗原(EMA)和 P53 检测呈阳性,而 S-100 和癌胚抗原(CEA)检测呈阴性。根据这些结果,诊断为上唇 SC。本病例报告和综述旨在描述上唇癌的组织发生、独特的临床病理特征和目前的治疗方案。
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引用次数: 0
Artificial intelligence-based automated determination in breast and colon cancer and distinction between atypical and typical mitosis using a cloud-based platform. 利用云平台对乳腺癌和结肠癌进行基于人工智能的自动测定,并区分非典型有丝分裂和典型有丝分裂。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-10-30 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611815
Nilay Bakoglu, Emine Cesmecioglu, Hirotsugu Sakamoto, Masao Yoshida, Takashi Ohnishi, Seung-Yi Lee, Lindsey Smith, Yukako Yagi

Artificial intelligence (AI) technology in pathology has been utilized in many areas and requires supervised machine learning. Notably, the annotations that define the ground truth for the identification of different confusing process pathologies, vary from study to study. In this study, we present our findings in the detection of invasive breast cancer for the IHC/ISH assessment system, along with the automated analysis of each tissue layer, cancer type, etc. in colorectal specimens. Additionally, models for the detection of atypical and typical mitosis in several organs were developed using existing whole-slide image (WSI) sets from other AI projects. All H&E slides were scanned by different scanners with a resolution of 0.12-0.50 μm/pixel, and then uploaded to a cloud-based AI platform. Convolutional neural networks (CNN) training sets consisted of invasive carcinoma, atypical and typical mitosis, and colonic tissue elements (mucosa-epithelium, lamina propria, muscularis mucosa, submucosa, muscularis propria, subserosa, vessels, and lymph nodes). In total, 59 WSIs from 59 breast cases, 217 WSIs from 54 colon cases, and 28 WSIs from 23 different types of tumor cases with relatively higher amounts of mitosis were annotated for the training. The harmonic average of precision and sensitivity was scored as F1 by AI. The final AI models of the Breast Project showed an F1 score of 94.49% for Invasive carcinoma. The mitosis project showed F1 scores of 80.18%, 97.40%, and 97.68% for mitosis, atypical, and typical mitosis layers, respectively. Overall F1 scores for the current results of the colon project were 90.02% for invasive carcinoma, 94.81% for the submucosa layer, and 98.02% for vessels and lymph nodes. After the training and optimization of the AI models and validation of each model, external validators evaluated the results of the AI models via blind-reader tasks. The AI models developed in this study were able to identify tumor foci, distinguish in situ areas, define colonic layers, detect vessels and lymph nodes, and catch the difference between atypical and typical mitosis. All results were exported for integration into our in-house applications for breast cancer and AI model development for both whole-block and whole-slide image-based 3D imaging assessment.

病理学中的人工智能(AI)技术已在许多领域得到应用,并需要有监督的机器学习。值得注意的是,在不同的研究中,确定识别不同混淆过程病理的基本事实的注释各不相同。在本研究中,我们介绍了 IHC/ISH 评估系统对浸润性乳腺癌的检测结果,以及对结直肠标本中各组织层、癌症类型等的自动分析结果。此外,我们还利用其他人工智能项目中现有的全切片图像集(WSI)开发了用于检测多个器官中非典型和典型有丝分裂的模型。所有 H&E 切片均由不同的扫描仪以 0.12-0.50 μm/pixel 的分辨率扫描,然后上传到基于云的人工智能平台。卷积神经网络(CNN)训练集包括浸润癌、非典型和典型有丝分裂以及结肠组织元素(粘膜上皮、固有层、粘膜肌层、粘膜下层、固有肌层、浆膜下层、血管和淋巴结)。共有 59 个乳腺病例的 59 个 WSIs、54 个结肠病例的 217 个 WSIs 和 23 个不同类型肿瘤病例中有丝分裂相对较多的 28 个 WSIs 被标注用于训练。精确度和灵敏度的调和平均值被人工智能评为 F1。乳腺项目的最终人工智能模型显示,浸润性癌的 F1 得分为 94.49%。有丝分裂项目显示,有丝分裂层、非典型有丝分裂层和典型有丝分裂层的 F1 分数分别为 80.18%、97.40% 和 97.68%。结肠项目当前结果的总体 F1 分数为:浸润癌 90.02%,粘膜下层 94.81%,血管和淋巴结 98.02%。在对人工智能模型进行训练和优化以及对每个模型进行验证后,外部验证人员通过盲读任务对人工智能模型的结果进行了评估。本研究开发的人工智能模型能够识别肿瘤病灶、区分原位区域、定义结肠层、检测血管和淋巴结,并捕捉非典型有丝分裂和典型有丝分裂之间的区别。所有结果都已导出,以便整合到我们内部的乳腺癌应用软件中,并为基于整块和整张图像的三维成像评估开发人工智能模型。
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引用次数: 0
Diagnostic challenges in complicated case of glioblastoma. 胶质母细胞瘤复杂病例的诊断难题。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-10-29 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611875
Tatiana Aghova, Halka Lhotska, Libuse Lizcova, Karla Svobodova, Lucie Hodanova, Karolina Janeckova, Kim Vucinic, Martin Gregor, Dora Konecna, Filip Kramar, Jiri Soukup, David Netuka, Zuzana Zemanova

Glioblastoma is the commonest primary malignant brain tumor, with a very poor prognosis and short overall survival. It is characterized by its high intra- and intertumoral heterogeneity, in terms of both the level of single-nucleotide variants, copy number alterations, and aneuploidy. Therefore, routine diagnosis can be challenging in some cases. We present a complicated case of glioblastoma, which was characterized with five cytogenomic methods: interphase fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, comparative genomic hybridization array and single-nucleotide polymorphism, targeted gene panel, and whole-genome sequencing. These cytogenomic methods revealed classical findings associated with glioblastoma, such as a lack of IDH and TERT mutations, gain of chromosome 7, and loss of chromosome 10. At least three pathological clones were identified, including one with whole-genome duplication, and one with loss of 1p and suspected loss of 19q. Deletion and mutation of the TP53 gene were detected with numerous breakends on 17p and 20q. Based on these findings, we recommend a combined approach to the diagnosis of glioblastoma involving the detection of copy number alterations, mutations, and aneuploidy. The choice of the best combination of methods is based on cost, time required, staff expertise, and laboratory equipment. This integrated strategy could contribute directly to tangible improvements in the diagnosis, prognosis, and prediction of the therapeutic responses of patients with brain tumors.

胶质母细胞瘤是最常见的原发性恶性脑肿瘤,预后极差,总生存期短。它在单核苷酸变异、拷贝数改变和非整倍体水平方面具有瘤内和瘤间高度异质性的特点。因此,在某些病例中,常规诊断可能具有挑战性。我们介绍了一例复杂的胶质母细胞瘤病例,该病例采用了五种细胞基因组学方法进行鉴定:间期荧光原位杂交、多重连接依赖性探针扩增、比较基因组杂交阵列和单核苷酸多态性、靶向基因面板和全基因组测序。这些细胞基因组学方法揭示了与胶质母细胞瘤相关的经典发现,如缺乏 IDH 和 TERT 突变、7 号染色体增益和 10 号染色体缺失。至少发现了三个病理克隆,其中一个存在全基因组重复,另一个存在 1p 缺失和疑似 19q 缺失。在 17p 和 20q 上检测到 TP53 基因的缺失和突变,以及许多断裂。基于这些发现,我们建议对胶质母细胞瘤进行综合诊断,包括检测拷贝数改变、突变和非整倍体。最佳方法组合的选择取决于成本、所需时间、工作人员的专业知识和实验室设备。这种综合策略可直接有助于切实改善脑肿瘤患者的诊断、预后和治疗反应预测。
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引用次数: 0
Case report: Orbital myeloid sarcoma: a report of two rare cases and review of the literature. 病例报告:眼眶髓样肉瘤:两例罕见病例报告及文献综述。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-10-25 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611818
Yanxi Li, Yujiao Wang, Weimin He

Myeloid sarcoma (MS) occurs when primitive or naive myeloid cells form outside the bone marrow. It occurs mainly in soft/connective tissue and skin; orbital involvement is rare. We report the cases of two female adults, analyze the clinicopathologic characteristics, and review the literature. The average age of both patients was 28 years and they presented unilateral proptosis combined with varying degrees of impaired visual acuity and restricted ocular motility in the affected eye. Despite this, they maintained good overall health and no notable family history. However, the patients had no systemic clinical manifestations of acute myeloid leukemia (AML). Both patients underwent surgical resection of the orbital tumor. Immunohistochemistry showed positive staining for CD43, Leukocyte Common Antigen (LCA), and myeloperoxidase (MPO) and a high level of positive staining for Ki67, which were diagnostic for MS. Bone marrow cytology examination showed no apparent abnormalities. Postoperative chemotherapy, local radiotherapy, and allogeneic hematopoietic stem cell transplantation (allo-HSCT) were performed in Case 1, while the second patient underwent adjuvant chemotherapy and radiotherapy. No recurrence or metastasis was found in either patient during follow-up (one more than 5 years, the other more than 10 years). The occurrence of orbital MS is infrequent, with atypical clinical and imaging findings. The diagnosis depends on pathomorphology and immunohistochemical staining, and the prognosis is good with postoperative adjuvant chemotherapy, local radiotherapy, and allo-HSCT.

髓样肉瘤(MS)是由原始或幼稚的髓样细胞在骨髓外形成。它主要发生在软组织/结缔组织和皮肤,很少累及眼眶。我们报告了两名女性成人的病例,分析了临床病理特征,并回顾了相关文献。两名患者的平均年龄为 28 岁,均表现为单侧突眼,患眼伴有不同程度的视力受损和眼球活动受限。尽管如此,他们的整体健康状况良好,没有明显的家族病史。不过,患者没有急性髓性白血病(AML)的全身临床表现。两名患者都接受了眼眶肿瘤的手术切除。免疫组化结果显示,CD43、白细胞共同抗原(LCA)和髓过氧化物酶(MPO)染色阳性,Ki67染色也呈高度阳性,可诊断为多发性硬化症。骨髓细胞学检查未发现明显异常。第一例患者接受了术后化疗、局部放疗和异基因造血干细胞移植(allo-HSCT),第二例患者接受了辅助化疗和放疗。两位患者在随访期间(一位超过 5 年,另一位超过 10 年)均未发现复发或转移。眼眶多发性硬化症并不常见,临床和影像学表现也不典型。诊断取决于病理形态学和免疫组化染色,术后辅助化疗、局部放疗和同种异体造血干细胞移植预后良好。
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引用次数: 0
Investigating the effect of immunomagnetic separation on the immunophenotype and viability of plasma cells in plasma cell disorders. 研究免疫磁分离对浆细胞疾病中浆细胞免疫表型和活力的影响。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-10-18 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611882
Ágnes Czeti, Soma Sashalmi, Ferenc Takács, Gábor Szalóki, Csilla Kriston, Gergely Varga, Péter Farkas, Aryan Hamed, Ágnes Márk, Gábor Barna

Plasma cell enrichment plays a pivotal role in the accurate prognosis and molecular characterization of multiple myeloma. The separation is commonly carried out by positive cell selection using CD138 monoclonal antibody conjugated to magnetic beads. Optimally, during the separation procedure, the cells should neither be damaged, nor should their phenotype be significantly altered, as these changes would falsify the results if the isolated cells were subsequently used. For this reason, we investigated the expression patterns of different surface markers by flow cytometry before and after magnetic isolation using bone marrow or peripheral blood samples from 12 patients with plasma cell disorders. The selected markers are not only used as backbone markers in routine diagnostics (CD19, CD38, CD45, CD117, and CD138), but they also play an important role in cell adhesion and connection with microenvironment (CD44, CD49d, CD56, and CD81) or possibly drug resistance (CD69, CD86, and CD184), making them promising targets for myeloma research. Moreover, we examined the effects of separation on cell viability in 8 cases. The intensities of 8 out of the 12 investigated markers were slightly influenced, while CD138, CD38, CD56, and CD184 were changed significantly, however the immunophenotype of the cells was not changed. Positive markers remained positive and negative ones remained negative after the separation procedure. In addition, the number of apoptotic plasma cells was significantly reduced during separation, facilitating further examination of the cells. Our results showed that magnetic isolation can be considered as a reliable option but the immunophenotype of plasma cells should be validated after the separation if the intensities of the markers are important for further experiments.

浆细胞富集对多发性骨髓瘤的准确预后和分子特征描述起着关键作用。通常采用CD138单克隆抗体与磁珠结合的阳性细胞选择法进行分离。最理想的情况是,在分离过程中,细胞既不能受损,其表型也不能发生明显改变,因为这些改变会使分离出的细胞在随后的使用中出现错误结果。为此,我们利用 12 名浆细胞疾病患者的骨髓或外周血样本,通过流式细胞术研究了磁分离前后不同表面标记物的表达模式。所选标记物不仅是常规诊断中的骨干标记物(CD19、CD38、CD45、CD117 和 CD138),而且在细胞粘附和与微环境的联系(CD44、CD49d、CD56 和 CD81)或可能的耐药性(CD69、CD86 和 CD184)中也发挥着重要作用,因此是骨髓瘤研究中很有前景的靶标。此外,我们还检测了 8 个病例中分离对细胞活力的影响。在 12 个研究标记中,有 8 个的强度受到轻微影响,而 CD138、CD38、CD56 和 CD184 则发生了显著变化,但细胞的免疫表型没有改变。在分离过程后,阳性标记物仍为阳性,阴性标记物仍为阴性。此外,在分离过程中,凋亡浆细胞的数量明显减少,有利于进一步检查细胞。我们的研究结果表明,磁分离是一种可靠的选择,但如果标记物的强度对进一步实验很重要,则应在分离后对浆细胞的免疫表型进行验证。
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引用次数: 0
Prognostic role of lymph node regression in patients with esophageal cancer undergoing neoadjuvant therapy. 接受新辅助治疗的食管癌患者淋巴结消退的预后作用。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-10-11 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611844
Pingrun Chen, Maojia Chen, Yijie Bu, Guowei Che, Chao Cheng, Yan Wang

Purpose: To clarify the prognostic value of lymph node regression (LNR) status including the lymph node regression grade (LNRG) and N downstaging in patients with esophageal cancer receiving neoadjuvant therapy based on available evidence.

Methods: Several databases were searched up to 25 March 2024. The main outcomes included overall survival (OS), disease-free survival (DFS) and cancer-specific survival (CSS). Hazard ratios (HRs) and 95% confidence intervals (CIs) were combined. Subgroup analyses based on the neoadjuvant therapy and pathological type were also conducted.

Results: In total, 14 retrospective studies with 3,212 participants were included. Nine and five studies explored the relationship between LNRG and N downstaging and survival, respectively. Pooled results indicated that complete LNR predicted significantly improved OS (HR = 0.47, 95% CI: 0.41-0.55, P < 0.001) and DFS (HR = 0.42, 95% CI: 0.32-0.55, P < 0.001) and subgroup analysis based on neoadjuvant therapy and pathological type manifested similar results. Besides, N downstaging was also significantly related to improved OS (HR = 0.40, 95% CI: 0.21-0.77, P = 0.006) and CSS (HR = 0.27, 95% CI: 0.12-0.60, P < 0.001).

Conclusion: LNR could serve as a novel and reliable prognostic factor in patients with esophageal cancer receiving neoadjuvant therapy and complete LNR and N downstaging predict better survival.

目的:根据现有证据,明确接受新辅助治疗的食管癌患者淋巴结消退(LNR)状态(包括淋巴结消退分级(LNRG)和N降级)的预后价值:方法:检索了截至 2024 年 3 月 25 日的多个数据库。主要结果包括总生存期(OS)、无病生存期(DFS)和癌症特异性生存期(CSS)。合并了危险比(HRs)和95%置信区间(CIs)。此外,还根据新辅助疗法和病理类型进行了亚组分析:共有14项回顾性研究纳入了3212名参与者。9项和5项研究分别探讨了LNRG和N降期与生存率之间的关系。汇总结果显示,完全LNR预示着OS(HR=0.47,95% CI:0.41-0.55,P<0.001)和DFS(HR=0.42,95% CI:0.32-0.55,P<0.001)的显著改善,基于新辅助治疗和病理类型的亚组分析也显示出相似的结果。此外,N降期也与OS(HR = 0.40,95% CI:0.21-0.77,P = 0.006)和CSS(HR = 0.27,95% CI:0.12-0.60,P < 0.001)的改善显著相关:LNR可作为接受新辅助治疗的食管癌患者的一个新的、可靠的预后因素,完全LNR和N分期预示着较好的生存率。
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引用次数: 0
Diagnostic performance of intracystic carcinoembryonic antigen (CEA) versus glucose in differentiation of mucinous and non-mucinous pancreatic cysts. 囊内癌胚抗原 (CEA) 与葡萄糖在区分粘液性和非粘液性胰腺囊肿方面的诊断性能。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-10-10 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611881
György Gyimesi, Bánk Keczer, Péter Rein, Miklós Horváth, Ákos Szűcs, Tamás Marjai, Attila Szijártó, István Hritz

Background and objectives: Pancreatic cysts have various potential for malignant transformation. Differentiating mucinous from non-mucinous cysts is crucial to make the right decision about further management, since mucinous cysts carry the risk of malignancy. Using endoscopic ultrasound (EUS) guided fine needle aspiration to determine intracystic carcinoembryonic antigen (CEA) levels is the recommended method for identifying mucinous cysts, although intracystic glucose assessment has also proved to be an effective tool. This study aims to compare the diagnostic performance of intracystic glucose and CEA in distinguishing between mucinous and non-mucinous pancreatic cystic lesions.

Methods: In this single center study, we prospectively collected and analyzed the data of 91 consecutive patients who underwent endoscopic ultrasound (EUS)-guided fine-needle aspiration (FNA) with cytological analysis and measurement of intracystic CEA and glucose levels. The cyst type was classified based on radiological and EUS morphology, string sign, CEA, cytological and histological findings in resected cases. The diagnosis was established retrospectively by three experienced gastroenterologists blinded for glucose level in cases without definitive cytology or histology. We calculated the sensitivity, specificity, the positive- and negative predictive value of glucose and CEA respectively, and compared the two methods.

Results: The sensitivity of intracystic glucose versus CEA proved to be 96.2% vs. 69.2% in identifying mucinous cysts, while the specificity of glucose was shown to be 79.5%, compared to 100% for CEA.

Conclusion: Intracystic glucose is a sensitive, easily accessible biomarker in identifying mucinous pancreatic cysts, however, the specificity is lower compared to CEA. The measurement of intracystic glucose level could help in decision-making in daily clinical practice, however the diagnostic performance of the method remains inferior to "through-the-needle" techniques, such as confocal laser endomicroscopy and Moray forceps biopsy.

背景和目的:胰腺囊肿有各种恶变的可能性。由于粘液性囊肿有恶变的风险,因此区分粘液性囊肿和非粘液性囊肿对于做出进一步治疗的正确决定至关重要。使用内镜超声(EUS)引导下的细针穿刺来确定囊内癌胚抗原(CEA)水平是鉴别粘液性囊肿的推荐方法,尽管囊内葡萄糖评估也被证明是一种有效的工具。本研究旨在比较囊内葡萄糖和 CEA 在区分粘液性和非粘液性胰腺囊性病变方面的诊断性能:在这项单中心研究中,我们前瞻性地收集并分析了91例连续接受内镜超声(EUS)引导下细针穿刺(FNA)、细胞学分析和囊内CEA及葡萄糖水平测量的患者的数据。根据放射学和 EUS 形态、弦征、CEA、切除病例的细胞学和组织学结果对囊肿类型进行分类。对于没有明确细胞学或组织学检查结果的病例,由三位经验丰富的胃肠病学专家通过葡萄糖水平盲法进行回顾性诊断。我们分别计算了葡萄糖和 CEA 的敏感性、特异性、阳性预测值和阴性预测值,并对两种方法进行了比较:结果:在识别粘液性囊肿方面,囊内葡萄糖和 CEA 的灵敏度分别为 96.2% 和 69.2%,而葡萄糖的特异性为 79.5%,CEA 为 100%:结论:囊内葡萄糖是鉴别粘液性胰腺囊肿的一种敏感、易得的生物标志物,但其特异性低于 CEA。囊内葡萄糖水平的测量有助于日常临床实践中的决策制定,但其诊断性能仍不及 "穿刺 "技术,如共聚焦激光内窥镜和莫雷镊活检。
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引用次数: 0
Case report: Comprehensive clinical, pathological and genetic investigations to decipher the background of cyclic thrombocytopenia. 病例报告:通过全面的临床、病理和遗传学调查,破解周期性血小板减少症的背景。
IF 2.3 4区 医学 Q3 ONCOLOGY Pub Date : 2024-09-30 eCollection Date: 2024-01-01 DOI: 10.3389/pore.2024.1611914
Zsófia Flóra Nagy, Kristóf Árvai, Péter Lakatos, Ildikó Beke Debreceni, Balázs Szili, Ildikó Istenes, Csaba Bödör, Judit Demeter

Cyclic thrombocytopenia (CTP) is a rare disease characterized by the oscillations seen in the platelet count of the patients. The pathomechanism of the disease is poorly understood, several pathological processes have been implied in the background of CTP. In our current study, we aimed to thoroughly investigate the case of a 41-year-old female patient with a 22-year history of CTP. Wide-ranging laboratory testing, histological analyses and genetic investigations were carried out to investigate all the defects and alterations of physiological pathways described in the background of CTP to date. Bone marrow biopsy showed normal hemopoiesis with the abundance of megakaryocytes, some of which displayed hypolobulated nuclei. T-cell receptor rearrangement studies showed a polyclonal pattern with no indication of a monoclonal cell population. Flow cytometric assessment of the platelets revealed large number of immature platelets and decreased expression of glycoprotein IIb and IIIa at platelet zenith. Increased expression of glycoprotein IIb, IIIa and glycoprotein Ib-IX complex was observed at the nadir of the cycle. Whole exome sequencing revealed a heterozygous missense variant of uncertain significance in the SERPINC1 gene, which has been associated with hereditary antithrombin deficiency. The screening of autoantibodies did not reveal signs of autoreactive processes, and no thyroid dysfunction was found. Furthermore, synchronization with the menstrual cycle could not be concluded based on our patient's case. With our results we contribute to the very limited data known about the long-term course of the disease and provide valuable insights into the genetic architecture of CTP.

周期性血小板减少症(CTP)是一种罕见的疾病,其特点是患者的血小板计数出现波动。目前对该病的病理机制尚不十分清楚,有多种病理过程隐含在 CTP 的背景中。在本研究中,我们旨在彻底调查一名 41 岁女性患者的病例,该患者有 22 年的 CTP 病史。我们进行了广泛的实验室检测、组织学分析和遗传学调查,以研究迄今为止在 CTP 背景下所描述的所有生理途径的缺陷和改变。骨髓活检显示造血功能正常,巨核细胞丰富,其中一些细胞核呈低分叶性。T细胞受体重排研究显示了多克隆模式,没有单克隆细胞群的迹象。对血小板进行的流式细胞术评估显示,血小板中有大量未成熟血小板,血小板顶端的糖蛋白 IIb 和 IIIa 表达减少。在周期的最低点,观察到糖蛋白 IIb、IIIa 和糖蛋白 Ib-IX 复合物的表达增加。全外显子组测序显示,SERPINC1基因存在一个意义不明的杂合错义变异,该变异与遗传性抗凝血酶缺乏症有关。自身抗体筛查没有发现自身反应过程的迹象,也没有发现甲状腺功能障碍。此外,根据我们患者的病例,也无法得出与月经周期同步的结论。我们的研究结果丰富了有关该病长期病程的有限数据,并对 CTP 的遗传结构提供了有价值的见解。
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Pathology & Oncology Research
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