International journal of clinical and experimental pathology最新文献

Introduction: Diffuse glioma constitutes 28% of primary brain tumors. Until recently morphologic appearance was the only criterion for classifying these tumors. However, WHO 2016 incorporates molecular information in the primary diagnosis of gliomas such as Isocitrate dehydrogenase 1 (IDH1), Alpha thalassemia/mental retardation syndrome X inked (ATRX) as well as 1p/19q codeletion on FISH. In a resource-limited setup where FISH is not available, Alpha internexin (INA) has been suggested as a surrogate IHC marker.

Material and methods: Cross-sectional study conducted in the Department of Pathology for two years. Tissue blocks and clinical as well as radiological details were obtained from departmental archives. After assessing the morphologic details, routine IHC markers such as GFAP, Ki67 and P53 along with molecular markers like IDH-1, ATRX, and lNA were applied.

Results: Out of 55 cases of diffuse glioma, 23 cases of astrocytoma and 32 cases of oligodendroglioma with an overall mean age of presentation of 41.49 ± 12.47 years. IDH-1 expression among diffuse glioma was 89.1% in our study. Alteration in the ATRX gene expression was observed in 95.7% of astrocytomas. 75% of oligodendrogliomas expressed INA with no significant difference in expression between the two grades. Based on the algorithmic approach using molecular surrogate markers, diffuse gliomas were categorized into six distinct groups. IDH-mutant, ATRX loss of expression astrocytoma and IDH-mutant, INA positive oligodendroglioma are two categories that do not require further molecular testing. This comprises 72.7% of the cases and these do not warrant further workup.

Conclusion: Implementation of combined phenotypic-genotypic diagnosis with the use of histomorphology and immunohistochemical surrogates for molecular genetic alterations will yield more homogeneous and narrowly defined diagnostic entities which will provide better prognostication and definitive treatment. It also is cost-effective in a resource-limited setup.

Background: Echinoderm microtubule-associated protein-like 2 (EML2), a gene located on 19q13.32, is overexpressed in various cancers and has been identified as a prognostic factor. However, the function and carcinogenic mechanism of EML2 in colon cancer is yet to be explored.

Methods: This study aimed to demonstrate the relationship between EML2 expression and colon cancer using The Cancer Genome Atlas (TCGA) database. The EML2 expression, including GSE33113 and GSE39923, was validated in colon cancer in the Gene Expression Omnibus (GEO) database. The Receiver Operating Characteristic (ROC) curves were used to assess the feasibility of EML2 as a distinguishing factor from the area under the curve (AUC) scores. In addition, Cox regression and logistic regression analyses were conducted to evaluate the factors linked to the prognosis of colon cancer. Moreover, the STRING tool was used to establish the EML2 binding protein network. The enrichment analysis cluster Profiler of the R package was utilized to investigate the function of EML2. The relationship between the immune infiltration and EML2 expression level in colon cancer was investigated by the R package Gene Set Variation Analysis (GSVA) and the single sample Gene Set Enrichment Analysis (ssGSEA) method in the Tumor Immune Estimation Resource (TIMER) database.

Results: Pan-cancer data analysis revealed that EML2 expression was higher in most cancers, including colon cancer. This outcome was in line with the findings of the GEO database. The ROC curve demonstrated that EML2 can serve as a diagnostic biomarker for colon cancer (AUC = 0.738). High EML2 expression was associated with poorer overall survival (OS; P = 0.004). Moreover, the results of the enrichment and immune infiltration analysis revealed that high EML2 expression correlated with regulation of the infiltration level of GTPase binding and some immune cell types like NK cells and NK CD56 bright cells.

Conclusion: The findings revealed that colon cancer tissues had a higher EML2 expression than normal colon epithelial tissues. This phenomenon was significantly associated with poor prognosis and altered immune cell infiltration. Consequently, EML2 has shown the capacity to serve as a prognostic biomarker for patients diagnosed with colon cancer.

Synovial metastasis is a rare condition with only a few cases reported in the literature. Synovial metastasis to the finger or toe joint is different from acrometastasis, which is defined as bone metastasis located distal to the elbow and knee. The most common site of synovial metastasis is the knee joint. Conversely, synovial metastasis to the finger or toe joints has, to our knowledge, been reported in one case only so far. Herein, we report the second case of synovial metastasis to the proximal interphalangeal joint of the right third finger in a patient with metastatic pulmonary squamous cell carcinoma and review the literature on synovial metastasis.

[This corrects the article on p. 138 in vol. 16, PMID: 37559682.].

Objective: This study sought to investigate the safety and clinical outcomes associated with the combined administration of dexmedetomidine (Dex) and remifentanil (Rem) in patients with coronary heart disease undergoing three-dimensional (3D) laparoscopic surgery, with concurrent monitoring of the electroencephalography (EEG) bispectral index.

Methods: This study is of a retrospective nature and involved a total of 60 patients with coronary heart disease who underwent 3D laparoscopic surgery at our hospital between June 2020 and September 2021. In a double-blind manner, these patients were randomly assigned to two groups: the control group (Group I), which consisted of 30 patients, and the treatment group (Group II) receiving a combination of Dex and Rem, also comprising 30 patients. The study's primary objective was to compare and assess the treatment outcomes in these two patient groups.

Results: Patients in Group II who developed postoperative coronary heart disease experienced a significant reduction in blood pressure, heart rate, and electrocardiogram values (P<0.05). Additionally, Group II exhibited lower bispectral index (BIS) and visual analog scale (VAS) values (P<0.05).

Conclusion: In patients with coronary heart disease undergoing 3D laparoscopic surgery, the intraoperative use of Dex combined with Rem anesthesia offers several advantages. It helps stabilize hemodynamics, reducing the risk of myocardial ischemia, and significantly alleviates postoperative pain, all without increasing the likelihood of adverse postoperative reactions. Furthermore, this approach effectively dampens the intraoperative and postoperative stress response, facilitating enhanced recovery after surgery (ERAS). Overall, the clinical impact is positive, safe, and reliable.

Female pathological tumors are easily misdiagnosed and missed in clinical practice. Especially in patients with Peutz-Jeghers syndrome (PJS) who often have a variety of rare types of gynecological tumors. We reported a patient with a case of PJS with a lower abdominal mass as the clinical manifestation. Physical and auxiliary examinations showed a large pelvic and abdominal mass. According to the patient's PJS history, gastric adenocarcinoma (GAC) was diagnosed after timely cervical biopsy. The patient underwent abdominal and pelvic mass resection and extensive hysterectomy. The tumor extensively disseminated to the bilateral ovaries, endometrium, fallopian tubes and pelvis. The cyclin-dependent kinase inhibitor 2A gene mutation was demonstrated in cervical GAC samples using next-generation sequencing. We summarized the literature on PJS accompanied by GAC with metastases to bilateral ovaries and analyzed the clinical characteristics of female patients with PJS combined with multiple gynecological tumors. Being aware of the PJS history of the patient is helpful for the standardized diagnosis and treatment of PJS-related gynecological tumors.

Background: Lung cancer is one of the most common and deadly cancers in humans. P73, a member of the p53 family, is a vital gene for the carcinogenesis of lung cancer. Single nucleotide polymorphism (SNP) of P73 gene may affect the risk of lung cancer. Therefore, we performed a meta-analysis of p73 SNP and lung cancer risk using the most recent data.

Methods: A total of 1407 articles from EMBASE, Web of science, PubMed and Chinese National Knowledge Infrastructure (CNKI) databases were identified initially from the search. A meta-analysis of the association between P73 polymorphism and lung cancer risk was performed based on various genetic models and by type of lung cancer and race.

Results: Seven articles published in either English or Chinese with English abstract were eventually selected for final analysis. The total pooled population included 6214 subjects (2,897 cases and 3,317 controls). The results showed that p73 RS2273953 to RS1801173 polymorphism was associated with increased risk of lung cancer in Caucasians but not in Asians. Within Asians, those with p73 GC/GC may have an increased risk for squamous carcinoma compared to those with GC/AT+AT/AT polymorphism.

Conclusions: Our analysis suggested a lack of association between p73 RS2273953 to RS1801173 polymorphism and risk of lung cancer overall. However, patients with GC/GC polymorphism showed an increased risk for squamous carcinoma in the lung compared to those with GC/AT+AT/AT in Asians.

It has been demonstrated that interfering with the expression of chemokine-like factor-like MARVEL transmembrane domain-containing family member 6 (CMTM6) results in impaired programmed death 1 ligand 1 (PD-L1) protein expression in human tumor cells. PD-L1 relies on CMTM6 to inhibit T cell responses and promote tumor cell proliferation. The aim of the present study was to investigate the expression of CMTM6 and PD-L1 in cervical cancer and their clinical significance. Immunohistochemistry was used to detect the expression of CMTM6 and PD-L1 in 50 normal cervical tissues and 102 cervical cancer tissue samples. The results showed that CMTM6 and PD-L1 expression was associated with clinical staging, lymph node metastasis, distant metastasis, and tumor differentiation. In addition, there was a positive association between the expression of CMTM6 and that of PD-L1 in cervical cancer tissue. Survival analysis results showed that high expression of CMTM6 and PD-L1 was positively correlated with poor prognosis in patients. Univariate analysis showed that lymph node metastasis was associated with the prognosis of cervical cancer patients. Cox analysis indicated that PD-L1 is a risk factor affecting the survival time of cervical cancer patients. In conclusion, the expression of CMTM6 and PD-L1 is elevated in cervical cancer tissue and closely related to poor prognosis. Therefore, CMTM6 and PD-L1 may be new molecular targets for the treatment of cervical cancer.

Genetic mutational characterization of synchronous bilateral male breast cancer (BC) has been poorly reported due to its rarity. Herein, we present a 55-year-old male patient who was diagnosed with bilateral breast cancer (BBC) and harbored different gene mutations. The diagnosis of synchronous bilateral breast cancer (SBBC) was made using ultrasonography, magnetic resonance imaging (MRI), mammography and core-needle biopsy. Subsequently, bilateral modified radical mastectomies were performed, and histopathologic examination revealed invasive ductal carcinoma. To further investigate the genetic profile of the patient, the biopsy tissue from both breasts and a blood sample were subjected to targeted next generation sequencing (NGS). The genomic profile of the left breast (LB) sample revealed two copy number variations (CNVs), amplification of MCL1 and DAXX, while the right breast (RB) sample showed no obvious mutation. We are reporting this case along with its clinicopathologic findings and genetic investigations, since SBBS occurs extremely rarely, especially in men. The heterogeneity in gene mutations observed in this case may suggest a different pathogenesis and the need for different therapy strategies.

Objectives: The aim of the present study was to determine the clinical value of a novel hypoxia-inducible factor (HIF) target EH domain-containing protein 2 (EHD2) for predicting the outcome of patients with clear cell renal cell carcinoma (ccRCC).

Materials and methods: GEPIA public database was searched to determine a possible association between HIF2Α and EHD protein family members, and kidney renal clear cell carcinoma data were used to find the expression profile of EHD proteins in ccRCC samples. A tissue microarray from 70 ccRCC samples was used for immunohistochemical analysis to determine the specific expression pattern of EHD2 in ccRCC samples. In addition, univariate and multivariate analyses were performed to assess the utility of EHD2 as an independent prognostic factor for ccRCC.

Results: EHD protein family members were all found to be significantly correlated with HIF2Α expression in ccRCC. However, EHD2 was the only protein that was observed to be overexpressed in ccRCC cancer tissues compared with normal tissues. EHD2 and HIF2Α mRNA expression levels were found to be higher in cancer tissues compared with those in adjacent normal tissue according to reverse transcription-quantitative PCR analysis. Among the 70 patients with ccRCC, EHD2 was overexpressed in 52.8% (37/70). Subsequently, EHD2 was found to be significantly associated with both overall survival (P=0.016) and disease-free survival (P=0.029). Furthermore, by multivariate analysis, EHD2 was an independent prognostic factor for patients with ccRCC.

Conclusion: EHD2 is a novel HIF target, based on a relatively large sample of EHD2 research in patients with ccRCC. Furthermore, our study provided evidence that EHD2 can serve as a promising biomarker for predicting ccRCC outcome.