International journal of clinical and experimental pathology最新文献

Unilocular cystic mucoepidermoid carcinoma (UCMEC) is a rare and diagnostically challenging variant of mucoepidermoid carcinoma, frequently misdiagnosed preoperatively as a benign cystic lesion. We retrospectively analyzed six cases of UCMEC treated between January 2021 and May 2025. The cohort included three males and three females, with a mean age of 55.66 years (range: 24-77). The tumors were located in the parotid gland (n=4) and palate (n=2), with one palatal lesion exhibiting bony extension. The mean maximum tumor diameter was 2.5 cm. Histologically, all cases showed a predominant unilocular cystic architecture. Immunohistochemistry was positive for P40, P63, and CK7, supporting epithelial differentiation. Mucin production was confirmed by Alcian Blue-Periodic Acid Schiff (AB-PAS) staining. According to the AFIP grading system, five cases were low-grade and one was high-grade. Molecular analysis identified MAML2 gene fusion in five cases (83.3%), all of which were low-grade tumors. Surgical resection is the cornerstone of treatment. The detection of MAML2 fusion is a valuable diagnostic and prognostic marker, being strongly associated with low-grade histology and a favorable outcome. This case series aims to elucidate the clinicopathological and molecular characteristics of UCMEC to improve diagnostic accuracy. Accurate preoperative or intraoperative distinction from benign lesions and correct grading are paramount for determining the appropriate surgical scope and optimizing patient prognosis.

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) typically manifests as an epileptogenic subtype, posing challenges in differential diagnosis. Here, we report an unusual case of a PLNTY in a 14-year-old girl who was admitted to the hospital with acute headache, nausea, and vomiting. The tumor was initially misdiagnosed as ganglioglioma on imaging, and then diagnosed as PLNTY based on surgical and pathologic findings. The patient did not present with typical epileptic symptoms. PLNTY is a rare low-grade brain tumor that occurs in adolescents, with imaging manifestations similar to those of other neuroepithelial tumors, that can easily lead to misdiagnosis. In this article, we discuss the clinical features, imaging manifestations, pathologic findings, and molecular mechanisms of PLNTY in the context of this case, emphasizing the need for early diagnosis and treatment.

Membranous nephropathy (MN), called Membranous glomerulopathy, is a native kidney disease characterized by sub-epithelial immune complex deposits. Clinically, MN patients present with nephrotic syndrome, especially in the adolescent age group. MN has been traditionally divided into primary and secondary types based on the idiopathic nature and association with secondary causes. The vital breakthrough in understanding the pathogenesis of this disease was the discovery of the M type of phospholipase A2 receptor (PLA2R) antigen. It was found to be associated with 60-70% of primary/idiopathic MN. Thrombospondin type 1 domain-containing 7A (THSD7A) was the second discovered antigen associated with 7-10% of primary MN. PLA2R has become the gold standard for identification of primary MN and is documented as positive both at a tissue level and at a serological level. Later, with the help of laser dissection and mass spectrometry studies, many newer antigens have been discovered, such as NELL-1, Exostosin 1/2, Semaphorin 3B, and Netrin G1, etc., which were found to be associated with both primary and secondary MN. A few of these antigens were found to be specifically related to specific secondary causes, while other antigens had a lot of overlap. Given the substantial overlap associated with the latter, the dichotomy between primary and secondary MN will likely lose its importance. In addition, the need for a renal biopsy for a preliminary diagnosis becomes questionable. Hence, we speculate upon a paradigm shift in the understanding of pathogenesis and nomenclature of this disease since the antigen-based specificity has a potential impact on the therapeutic and prognostic aspects of the disease, which is the crux of this paper.

Objectives: Immune thrombocytopenia (ITP) is an autoimmune disorder characterized by platelet destruction, for which multiple pathogenic mechanisms have been proposed. However, the spleen, as the principal site of platelet clearance, plays a pivotal role in its pathogenesis. The objective of this study was to evaluate the histopathologic features of splenectomy specimens in patients with ITP, with a particular emphasis on the presence of megakaryocytes (MKCs) in the spleen and their relationship with clinical factors.

Methods: We examined spleen specimens from 16 patients with ITP and 10 controls, analyzing several aspects, including MKC density, white pulp (WP) histology, and immune cell markers.

Results: There was a higher MKC density in the spleens of patients with ITP in comparison to control spleens (P < 0.0001). The MKC density was positively correlated with platelet transfusion requirements, indicating severe disease progression. WP atrophy was also associated with high MKC count and high platelet transfusion volume.

Conclusions: These findings suggest that elevated MKC density in the spleens of patients with ITP may reflect distinct pathophysiologic pathways, possibly involving B cell-independent mechanisms. MKC density may serve as a simple and practical histologic marker for evaluating disease severity in patients with ITP.

Glioma is a highly aggressive malignancy with no effective treatment. This study investigates the role of protein tyrosine phosphatase receptor type N (PTPRN) in glioma progression. The U87 human glioma cell line was used to monitor proliferation, invasion, and migration during PTPRN knockdown. The viability, migration, and invasion were analyzed using the Cell Counting Kit-8 assay, transwell migration, and invasion assays. Additionally, the expression of proteins associated with the cell cycle was examined using western blotting. The knockdown of PTPRN resulted in a reduction in glioma cell proliferation, migration, and invasion, as well as the expression of cell cycle markers like cadherin 1 (CDH1), matrix metalloproteinase 9 (MMP9), snail family transcriptional repressor 1 (SNAI1), and others. Among these genes, MMP9 and SNAI1 are core genes that link PTPRN and the epithelial-mesenchymal transition (EMT) pathway. PTPRN, a key molecule associated with the EMT pathway, can be used as a molecular marker for tumor risk assessment, detection, and diagnosis in the early stages of glioma.

Background: Timely identification and preventative strategies for diminished bone density can markedly enhance patients' quality of life and reduce economic burdens. This study intended to create machine learning algorithms that precisely forecast the probability of bone mineral density loss.

Methods: The study comprised people aged 40 years and above who received health examinations at an affiliated institution from January 2022 to January 2024. Five machine learning algorithms were employed to forecast the risk of osteoporosis: k-nearest neighbor (KNN), random forest (RF), support vector machine (SVM), artificial neural network (ANN), and logistic regression (LR). The efficacy of these algorithms was assessed according to accuracy, sensitivity, specificity, and area under the receiver operating characteristic curve (AUROC).

Results: This study comprised 11,132 patients, of whom 3,568 exhibited diminished bone density. The original dataset comprised 17 variables, and after data screening, 13 variables were incorporated into the machine learning model. The AUROC scores for ANN, KNN, LR, RF, and SVM were 0.882, 0.906, 0.684, 0.918, and 0.896 for males, and 0.881, 0.843, 0.784, 0.922, and 0.872 for females, respectively. The accuracies of ANN, KNN, LR, RF, and SVM were 0.83, 0.86, 0.75, 0.88, and 0.82 for males, and 0.81, 0.77, 0.74, 0.85, and 0.79 for females.

Conclusion: Herein, we created five machine learning algorithms to precisely predict bone density reduction. The RF model had superior performance in both male and female cohorts, attaining the highest AUROC. Implementing machine learning models in clinical implementation can improve the prevention, identification, and early intervention of bone density deterioration.

Microcystic stromal tumor of ovary (MCST) is a rare ovarian sex cord-stromal tumor. This paper presents a case of a 47-year-old female who was admitted to the hospital due to occasional lower abdominal pain and subsequently diagnosed with Microcystic stromal tumor of the left ovary. No recurrence or metastasis was observed after 60 months of treatment. Moreover, all reported clinicopathological features, treatment methods, and prognoses of MCST patients are reviewed herein.

Plasma cell myeloma (PCM) is a bone marrow based neoplastic disorder of plasma cells. The presence of intracytoplasmic Auer rod-like inclusions (ARLIs) in PCM is exceedingly rare. To the best of our knowledge, approximately 40 cases have been published since its first description in 1940. These inclusions are predominantly observed in kappa-restricted, IgG-producing PCM. Only 7 cases of kappa-restricted, IgA-producing PCM with intracytoplasmic ARLIs have been documented in the literature. Here, we reported a rare case of recurrent kappa-restricted, IgA-positive PCM exhibiting intracytoplasmic ARLIs both before and after autologous hematopoietic stem cell transplantation (HSCT). The clinical features, laboratory studies, diagnosis, and management of this case were described. A comprehensive review of the literature was also provided to explore the origin and pathogenesis of these inclusions, and to examine their prognostic implications.

The differentiation of stem cells into tendon cells plays a crucial role in the repair of rotator cuff injuries. Long non-coding RNAs (lncRNAs) are known to regulate tendon-derived stem cell (TDSC) differentiation during tendon injury; however, the specific mechanisms involving the lncRNA colorectal neoplasia differentially expressed (CRNDE) have not been fully elucidated. In this study, we successfully isolated and cultured TDSCs, and established a tenogenic differentiation model through ascorbic acid treatment. RNA sequencing analysis showed that ascorbic acid significantly upregulated CRNDE expression. Furthermore, CRNDE overexpression in TDSCs markedly enhanced tenogenic differentiation. Using bioinformatics analysis in combination with luciferase reporter assays, we demonstrated that CRNDE and transforming growth factor beta receptor 2 (TGFBR2) contain shared binding sequences for miR-337, suggesting a competitive regulatory interaction. Overexpression of miR-337 was found to inhibit CRNDE-induced tenogenic differentiation and reduce both TGFBR2 mRNA and protein levels. In contrast, CRNDE knockdown decreased TGFBR2 protein expression and impaired tenogenic differentiation of TDSCs. In a rat model of rotator cuff tear (RCT), transplantation of CRNDE-overexpressing TDSCs significantly enhanced functional recovery, an effect associated with upregulation of TGFBR2. Taken together, these results demonstrate that CRNDE promotes tenogenic differentiation and tendon-bone healing through modulation of the miR-337/TGFBR2 signaling axis.

Bladder urothelial carcinoma (BLCA) is a prevalent urinary malignancy that complicates diagnosis and treatment. This study investigates the diagnostic and prognostic utility of COL11A1, a gene implicated in tumor progression and immune modulation, by analyzing its association with clinicopathological features, tumor progression, and immune infiltration dynamics. Using statistical methods, including Kaplan-Meier survival analysis and immune infiltration profiling, we evaluated COL11A1 expression in 407 BLCA patients and 28 normal controls. Results demonstrated significant COL11A1 overexpression in BLCA tissues versus controls (P < 0.001), with elevated expression correlating with poorer survival outcomes (hazard ratio = 1.53, P = 0.005). Immune infiltration analysis revealed robust positive associations between COL11A1 levels and macrophages, Th1 cells, natural killer (NK) cells, and neutrophils (P < 0.001), alongside significant links to advanced T stage (P < 0.001) and N stage (P = 0.030). These findings establish COL11A1 as a multifaceted biomarker for BLCA, offering critical insights into diagnosis, prognosis, and therapeutic strategies. Further research should elucidate its mechanistic roles in tumorigenesis and immune regulation, with potential applications across malignancies to advance personalized oncology.