Pathology, research and practice最新文献

Objectives: This study aimed to define the frequency of positivity of several immunohistochemical markers in uterine tumor resembling ovarian sex cord tumor (UTROSCT).

Methods: All consecutive UTROSCT cases were retrieved from consultation files of one of the authors. Histological and immunohistochemical slides were reviewed. In addition, three electronic databases were searched from their inception to January 2024 for all studies assessing the immunophenotype of UTROSCT. Exclusion criteria were: sample size < 10 patients, overlapping patient data, reviews. Endometrial stromal tumors with sex cord-like areas (formerly called "type I UTROSCT") were excluded. Immunohistochemical markers assessed in ≥ 10 cases in at least 3 different series were included. For each marker, pooled positivity rate was calculated by using a random effect model; mean labeling index was calculated for Ki67.

Results: Thirty UTROSCT cases were retrieved Six studies were included, and 30 new cases were obtained, with a total of 181 UTROSCTs. Fourteen immunohistochemical markers were assessed. Pooled positivity rates were (in descending order): CD56 = 97 %, progesterone receptor = 91 %, estrogen receptor = 85.5 %, WT1 = 84 %, wide-spectrum cytokeratins = 78.7 %, CD99 = 77 %, desmin = 74.5 %, calretinin = 70.6 %, smooth muscle actin = 56.4 %, inhibin = 44.5 %, CD10 = 41 %, caldesmon = 21.9 %, Melan-A/MART-1 = 10.4 %. Mean Ki67 labeling index was 8.7 %.

Conclusions: Immunophenotypically, UTROSCT is less consistent than ovarian sex cord tumors and overlaps with other mesenchymal and epithelial tumors; an integrated clinico-pathological and immunohistochemical evaluation appears necessary for a correct diagnosis.

Adenocarcinoma, the most prevalent type of colorectal cancer, makes up roughly 95 % of all cases and is associated with a notably high mortality rate. Owing to the various risk factors which might include personal choices and habits or genetic factors, the risk of developing the cancer for every individual might vary. However, given the statistics, the rate of acquiring the disease is pretty high. Therefore, based on the need for early detection and diagnosis of the disease, there is a pressing demand for an automated system to accurately identify adenocarcinoma in the colorectal region by utilizing the concept of binary segmentation wherein two classes are employed to indicate the presence as well as the absence of the condition. To address this, the project explored several deep learning-based segmentation methods-such as U-Net, Attention U-Net, U-Net with ResNet50 backbone, U-Net with MobileNet-v2 backbone, U-Net with EfficientNetB0 backbone, and U-Net with DenseNet121 backbone-to segment adenocarcinoma regions in histopathological images of the colon and rectum, which are essentially the various U-Net backbones. The performance of each method was then compared to identify the most effective approach, and subsequently, it was found that the U-Net with DenseNet121 backbone and U-Net with ResNet50 backbone performed better than the rest of the models in terms of accuracy with its respective training accuracy scores being 93.81 % and 93.39 % while the testing accuracy scores were 90.21 % and 89.81 %, respectively.

Estrogen receptor (ER) is a direct and reciprocal target gene for GATA3. Previous studies have shown that higher GATA3 expression in primary breast cancer (BC) is associated with a reduced probability of developing lung metastasis when compared to those with metastatic recurrence to other organs. Further, GATA3 downregulates several genes promoting BC lung metastasis and upregulates genes encoding known inhibitors of lung metastasis. In this study, we examined GATA3 expression in 34 consutive cases of paired primary BCs and their pulmonary metastases. Variable levels of GATA3 expression were seen in 94 % primary BCs (mean H-score 239), whereas a significantly reduced GATA3 expression was seen in the paired lung metastases (mean H-score 152; P < 0.0001). However, this trend was not observed for ER (mean H-score 140 vs. 109; P = 0.1). These findings provide further evidence that GATA3 may inhibit pulmonary deposition or sondary growth of BC cells in the lung. The effect of GATA3 in metastatic tumor growth was independent of cell differentiation, and this process is likely mediated by a GATA3-regulated genetic program driven by metastasis-associated genes rather than ER. Further exploring the molecular pathways by which GATA3 regulates downstream targets is pivotal in understanding organ-specific BC dissemination.

Endometriosis is a prevalent gynecological condition characterized by the presence of endometrial-like tissue outside the uterus, leading to chronic pelvic pain and infertility. This review aims to shed light on the latest advancements in diagnosing and managing endometriosis. It offers insight into the condition's pathogenesis, clinical symptoms, diagnostic techniques, and available treatment approaches. Furthermore, the article emphasizes innovative technologies and novel therapeutic strategies that promise to enhance patient outcomes significantly. This review aspires to empower clinicians to deliver the highest quality care to their patients affected by this challenging condition by consolidating the current understanding of endometriosis.

Urinary bladder cancer (UBC) is the ninth most common cancer worldwide. Despite the reliance of UBC therapy on definite pathological grading and classifications, the clinical response among patients varies widely. The molecular basis of this type of cancer appeals to considerable research; hence, new diagnostic and therapeutic options are introduced. Convenient keywords were searched in Google Scholar, PubMed, the Egyptian Knowledge Bank (EKB), and Web of Science. The recent era of UBC research is concerned with non-coding RNAs (ncRNAs), predominantly, microRNAs (miRNAs) and long non-coding RNA (lncRNAs). In addition, snoRNAs, PIWI-interacting RNAs, mitochondrial RNAs, circular, and Schistosoma haematobium-related ncRNAs appeared to contribute to the pathogenesis of the UBC. This review underscored the recently studied ncRNAs and their importance in the pathogenesis of UBC. Besides, we introduced the prospectives regarding their diagnostic, therapeutic, and prognostic significance in UBC clinical settings. Conclusion. Oncogenic and oncosuppressor ncRNAs' definite balances and interaction within the TME of UBC are key players in the fate of the tumor. Thus, profiling ncRNA in-depth inspects the TME of the UBC for better clinical insights.

Gastric duplication cysts (GDCs) are rare cystic neoplasms that are often difficult to distinguish from other entities. Accurate diagnosis of cysts before resection is difficult even using the most advanced imaging techniques. We present a case of a gastric duplication cyst in a 17-year-old female, presenting with discomfort in the upper abdomen. Gastroscopy showed a submucosal mass about 40 mm in diameter on the side of the greater curvature of stomach. Computed tomography (CT) reveals a submucosal prominence in the body of stomach, which could indicate a foregut cyst or an ectopic structure. Endoscopic ultrasonography (EUS) showed a submucosal bulge of the corpus body of stomach, and may be lipomas. Patients undergo endoscopic submucosal dissection (ESD) to relieve symptoms and confirm the diagnosis of lesions. The procedure went smoothly and the solid cystic lesions were completely removed. Histopathological examination reveals gastric duplication with mixed hemangioma, and intrinsic fat liquefaction. After resection, the patient was successfully discharged from the hospital, and during the 6-month follow-up period, there are no symptoms or evidence of disease recurrence. This is a rare case of gastric duplication with mixed hemangioma. ESD can be used as an alternative treatment to provide a definitive diagnosis.

Background: Regional lymph node (LN) status is a key prognostic factor in oesophageal cancer (OeC). Tumour-derived antigens can activate immune reactions in LNs, potentially reflecting the host's anti-tumour immune response. It remains unclear whether this response is homogeneous across all tumour negative LNs (LNneg) within individual OeC patients.

Purpose: To investigate the hypotheses: (1) the host anti-tumour immune response is similar in all LNneg from an individual OeC patient reflected in a similar microarchitecture in all LNneg; and (2) immune response measured in the largest LNneg can represent that of all LNnegs.

Methods: (y)pN0 patients from the Oe02 trial with at least two LNneg were included. Microarchitectural LN features (germinal centres (GermC), lymphocytes outside GermCs (lymphocytes), histiocytes) were morphometrically quantified. Linear mixed-effects models, intraclass correlation coefficients (ICC) and Bland-Altman plots were used to determine systematic bias, reliability/variability and agreement of LNneg microarchitecture measurements.

Results: Linear mixed-effects models showed no systematic bias in LNneg microarchitectural features within a patient. The ICC revealed moderate variability for lymphocytes (ICC: 0.39; 95 %CI: 0.01- 0.61, p = 0.02)) and GermC (ICC: 0.50; 95 %CI: 0.22-0.68, p < 0.001), and high variability for histiocytes (ICC: 0.07 (95 %CI: -0.45-0.40, p = 0.38). Bland-Altman plots showed that 5.0 % of GermC, 5.0 % of histiocytes and 8.5 % of lymphocyte measurements were outside the 95 % limits of agreement.

Conclusions: This is the first study to systematically assess agreement of microarchitectural features in LNneg within an individual (y)pN0 OeC patient. The absence of systematic bias supports using largest LNneg as surrogate for OeC patient's overall anti-tumour immune response.

Background: Renal hemangioblastoma (HB) is a rare extra-central nervous system (CNS) tumor, typically not linked to Von Hippel-Lindau (VHL) Syndrome, and its underlying genetic drivers and molecular mechanisms remain elusive. The objective of this study is to investigate the clinicopathological features and molecular genetic changes of primary renal hemangioblastomas.

Methods: Herein, the clinical, imaging, clinicopathological features, and immunophenotype in 3 cases of renal HB were retrospectively analyzed. Next generation sequencing (NGS) was employed to detect 116 gene loci, including VHL gene.

Results: Three patients (two males and one female) aged between 39 and 61 presented with renal masses detected by physical examination or imaging. Macroscopically, the tumors were well-demarcated, with a fibrous capsule and a grayish-yellow to brown, solid, medium-texture cut surface. Microscopically, the tumor cells were polygonal to oval and were separated by thin-walled branching capillaries into sheets and nests. The cells exhibited abundant, translucent, or pale pink cytoplas. Immunohistochemical (IHC) staining showed diffuse positivity for S-100 protein (3/3), Vimentin (3/3), α-Inhibin (3/3), and NSE (3/3) in all cases, with focal positivity for AE1/AE3, EMA, CD10, and PAX-8. Staining for SMA, CgA, Syn, HMB-45, and Melan-A was negative. CD31 and CD34 highlighted an abundant vascular network. NGS revealed TSC1 gene alterations in all 3 cases, with no VHL gene mutation detected.

Conclusions: Primary renal HB is a rare mesenchymal tumor that requires differentiation from clear cell renal cell carcinoma (CCRCC) using morphological, IHC markers, and genetic testing when necessary. TSC1 could be a specific molecular hallmark of renal HB. Additional case data is required to better understand the molecular genetic alterations of the disease.

Lung cancer is one of the most malignant cancers in the world. Approximately 40 % of lung cancer cases are lung adenocarcinoma (LUAD). Exploring new biomarkers was an urgent need for treatments of LUAD. Here, we aimed to perform a pan-cancer analysis of ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) and verify it in LUAD. Compared to normal samples, we observed that UQCRC1 was significantly enhanced in cervical squamous cell carcinoma and endocervical adenocarcinoma (CESC), LUAD, liver hepatocellular carcinoma (LIHC), and several other cancers. In terms of overall survival, UQCRC1 was positively associated with poor prognosis of LUAD and skin cutaneous melanoma (SKCM). Almost more than 8 % deeply deleted frequency of UQCRC1 was showed in lymphoid neoplasm diffuse large B-cell lymphoma (DLBC). In LUAD, SKCM, and a few cancers, UQCRC1 was negatively correlated with the infiltration of B cells and cancer-associated fibroblasts. As regards further mechanism analysis, we found that UQCRC1 modulated cancer progression via mitochondrial related metabolism and oxidative phosphorylation. Taking advantage of the Kras-driven spontaneous LUAD mice model, online single-cell data, and clinical tissues, we particularly confirmed that UQCRC1 was highly expressed in LUAD and acted as a prognostic marker for LUAD. These findings implied that UQCRC1 played an important role in cancers, especially in LUAD.

Our understanding of predictors of progression in Barrett's esophagus (BE) remains incomplete. To address this gap, we evaluated histological features and biomarkers that could predict dysplastic/neoplastic progression in patients with BE. We conducted a retrospective study to identify eligible BE patients and classified the cases into two groups: cases with BE progression (n = 10; progressing to high-grade dysplasia or carcinoma within five years of initial diagnosis) and cases without BE progression (n = 52; without progression to high-grade dysplasia or carcinoma within five years). Morphological features were evaluated on tissue slides for the initial diagnosis of Barrett's esophagus. Biomarkers including TP53, p16, HER2, β-Catenin, c-MYC, Ki67 and SATB2,were assessed by immunohistochemistry. The results of this study revealed that histologic features, including glandular irregularity and Paneth cell metaplasia (PCM), exhibited significant predictive potential for the progression of Barrett's esophagus to high-grade dysplasia or carcinoma within five years. Additionally, the immunohistochemical biomarkers assessed in our study were not associated with progression in Barrett's esophagus. These findings indicate the potential role of morphological features in assessing the risk of progression for patients with BE at the initial diagnosis. By integrating these insights into clinical practice, we may be able to optimize surveillance strategies for patients with this condition, ultimately improving patient outcomes.