Diagnostic Pathology最新文献

Background: Breast cancer is a leading global health concern, with lymph node metastasis (LNM) being a key prognostic factor affecting patient outcomes. Glycosylation-related enzymes such as calcium-activated nucleotidase 1 (CANT1) and Beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3) have been implicated in tumour progression, yet their roles in breast cancer, particularly invasive ductal carcinoma (IDC), are not well defined. This study investigates the immunohistochemical expression and correlation of CANT1 and B3GNT3 in IDC and their potential role in predicting LNM and clinical outcomes.

Materials and methods: Slides from paraffin blocks of 140 IDC cases and 108 corresponding metastatic axillary lymph nodes were stained with CANT1 and B3GNT3 antibodies. Associations between markers' immunoreactivity and clinicopathological variables were evaluated. Progression-free survival (PFS) was analysed using the Kaplan-Meier method. The prognostic significance of each variable was evaluated using both univariate and multivariate Cox proportional hazards regression analyses.

Results: High CANT1 and B3GNT3 expression was observed in 47.1% and 45.7% of cases, respectively. Both markers were significantly associated with tumour grade, tumour stage, Nottingham prognostic index, lymph node status, lymph node ratio, Her2 status, Ki-67 proliferative index and distant metastasis. A significant positive correlation was found between CANT1 and B3GNT3 expression (p < 0.001). Co-expression of both markers was strongly associated with LNM, along with a significant difference in the expression levels of each marker between primary tumours and corresponding LNM. Univariate analysis showed that tumour grade, stage, ER status and high B3GNT3 expression were all significantly associated with worse PFS. Multivariate Cox regression identified B3GNT3 expression, tumour grade and tumour stage as independent predictors of poor prognosis in IDC. High expression levels of CANT1 and B3GNT3 were associated with reduced PFS across all IDC cases (p = 0.035 and p = 0.001, respectively).

Conclusions: High CANT1 and B3GNT3 expressions are associated with aggressive clinicopathological features in IDC and predict unfavourable outcomes. These markers may serve as potential prognostic indicators and independent predictors of LNM in IDC patients.

Background: Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by clonal proliferation of abnormal Langerhans cells. We report a case of neonatal LCH diagnosed shortly after birth, an exceptionally early presentation in the neonatal period that is exceedingly rare. The BRAF V600E mutation was detected in this neonate.

Case presentation: We report a full-term male neonate delivered via forceps assistance. Within 24 hours of birth, a firm 1×1 cm subcutaneous nodule on the left medial thigh progressively enlarged and ulcerated. By postnatal day 19, a dark red non-blanchable papule appeared on the left sole and rapidly spread to postauricular, cervical, truncal, and palmar regions, developing multiple ulcerative lesions. Skin biopsy confirmed Langerhans cell histiocytosis (LCH), with immunohistochemistry demonstrating diagnostic markers CD1a(+), Langerin(+), and S-100(+). Molecular testing detected the BRAF V600E mutation. Based on the early onset of the disease, rapidly progressive multifocal ulcerative skin lesions, and the presence of a high-risk BRAF mutation suggesting potential systemic dissemination, we initiated induction chemotherapy with vincristine combined with prednisone. Following treatment, the skin lesions resolved completely. The child is now 30 months old. During follow-up, an episode of otitis media occurred, but no recurrence or systemic organ involvement has been observed since.

Conclusion: In this neonate, the initial localized skin lesions suggested potential spontaneous resolution. However, subsequent detection of the poor-prognosis BRAF V600E mutation indicated risk of systemic dissemination, prompting initiation of combination chemotherapy. Skin lesions resolved completely following vinblastine/prednisone therapy. Otitis media (an extracutaneous manifestation) emerging during follow-up further validated the treatment necessity, with no recurrence or new systemic manifestations observed thereafter.

Background: Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal malignancies. Tumor-infiltrating neutrophils (TINs) have been implicated in tumor progression and poor prognosis; however, their roles in PDAC remain unclear. TINs have been shown to granulocytic myeloid-derived suppressor cells (G-MDSCs) which inhibit adaptive immune responses and share morphological and functional features with classical neutrophils. G-MDSCs, unlike classical neutrophils, express myeloperoxidase (MPO). We evaluated the significance of TINs and MPO expression as a marker for prognosis in the PDAC.

Methods: We retrospectively analyzed 128 patients with surgically resected PDAC. The presence of TIN was assessed on hematoxylin and eosin-stained slides and immunohistochemistry was performed for MPO.

Results: TINs were identified in 61.7% of patients with PDAC. Their presence was significantly associated with worse overall survival and recurrence-free survival. After adjusting for clinicopathological variables, TIN remained an independent predictor of a poor prognosis. MPO was expressed in all TIN within PDAC, but was absent in neutrophils within benign inflammatory conditions.

Conclusions: TIN in PDAC represents an independent adverse prognostic factor and is likely to be G-MDSCs based on MPO expression. Assessing TIN and MPO status in preoperative biopsy specimens may offer valuable prognostic information and guide future therapeutic strategies for PDAC.

Background: Recent studies have shown that tumor cell membranes exhibit lower polarity than normal cell membranes, a characteristic that can be harnessed for cancer diagnosis. TPAS (viscosity-responsive plasma membrane probe), a recently developed staining method using cell membrane polarity probes, may selectively visualize cervical cancer cells by targeting membrane polarity differences, offering a potential new approach for cervical cancer screening.To investigate the diagnostic value of TPAS staining combined with liquid-based thin-layer cytological testing (TCT) and human papillomavirus (HPV) testing in detecting cervical cancer.

Methods: A total of 100 patients with suspected cervical precancerous lesions from the People's Hospital of Shaanxi Province between May 2024 and May 2025 were studied. All patients underwent TPAS testing, HPV testing and TCT. Biopsy results were the gold standard for evaluating positivity rates and diagnostic values of the tests, both individually and in combination.

Results: Among the 100 participants, the positive rates of the tests were as follows: TPAS detection rate was 86.7%, HPV detection rate was 80%, TCT rate 66.7%, and TCT + HPV rate was 35.00%. The combined TPAS + HPV testing showed higher accuracy (72.00%) and sensitivity(70.6%) than TCT + HPV (58.0%)and (54.1%), and the differences were statistically significant ((χ2 = 14.00,P = 0.0002).

Conclusion: TPAS combined with HPV testing has high specificity, sensitivity and accuracy, making it a promising approach for cervical cancer diagnosis.

Background: Histopathology and cytology request forms are pivotal in the pre-analytical phase of laboratory testing, where incomplete or erroneous documentation on these forms can compromise the entire testing process. This study aimed to assess the documentation quality and process performance of histopathology and cytology request forms using Six Sigma and Pareto analysis in three private laboratories in Benghazi, Libya.

Methods: A retrospective cross-sectional study was conducted on 1,181 request forms collected from February to April 2025. A structured checklist encompassing five documentation domains and 15 quality indicators based on WHO guidelines was used to assess form completeness. Six Sigma metrics including Defects per Unit (DPU), Defects per Million Opportunities (DPMO), Sigma level, and Yield (%), along with Pareto analysis, were applied to evaluate and prioritize quality deficiencies.

Results: None of the evaluated request forms achieved full compliance with documentation standards. The overall process performance was unacceptable, with a Sigma level of 1.707 and a yield of 58.22%. Pareto analysis revealed that approximately 80% of documentation errors originated from three key domains: requesting clinician details, personal information, and clinical information. The requesting clinician details domain was the most deficient, with a Sigma level of 1.438 and a yield of 47.5%. The personal information domain followed, with a Sigma level of 1.867 and a yield of 64.31%. The clinical information domain showed a Sigma level of 1.263 and a yield of 40.6%. In contrast, the specimen details domain exhibited relatively better performance, with a Sigma level of 2.574 and a yield of 85.86%.

Conclusions: Six Sigma and Pareto analysis were applied to identify critical deficiencies in documentation practices during the pre-analytical phase of histopathology services in Libya. The results highlight an urgent need to implement standardized staff training protocols, redesign request forms with mandatory fields, enforce accountability mechanisms, and establish robust quality monitoring systems. Low-cost tools-such as Excel-based compliance trackers and manual logbooks-can serve as effective interim solutions to enhance documentation compliance and support continuous quality improvement in resource-limited settings.

Background: CDX2, an intestine-specific transcription factor, is essential for colorectal epithelial differentiation and has been widely studied as a biomarker in colorectal adenocarcinoma (CRC). However, most previous studies applied a binary evaluation (positive/negative), which may underestimate its clinical significance.

Methods: We conducted a retrospective cross-sectional study of 356 surgically resected CRC cases at the University Medical Center, Ho Chi Minh City. CDX2 expression was evaluated by immunohistochemistry using an immunoreactivity score (IRS) that combined staining ratio and intensity. Associations between CDX2 expression and clinicopathological features were analyzed using chi-square and logistic regression tests.

Results: High CDX2 expression was observed in 88.8% of tumors, whereas 11.2% showed low expression. Low CDX2 was significantly associated with poor histological differentiation (OR = 3.79; 95% CI: 1.11-12.93; p = 0.033) and advanced local stage pT4a-pT4b compared with pT1-pT3 (OR = 2.86; 95% CI: 1.47-5.58; p = 0.002). No significant associations were found with patient age or sex. The combined scoring system allowed clearer discrimination between biologically distinct subgroups than the traditional binary method.

Conclusions: Low CDX2 expression is linked to aggressive pathological features and advanced tumor stage in CRC, highlighting its clinicopathological associations. Semi-quantitative evaluation of CDX2 using both staining ratio and intensity provides a more informative assessment that may aid risk stratification and guide clinical decision-making in CRC patients.

Seronegative spondyloarthropathy (SpA) and Takayasu's arteritis (TA) are distinct chronic inflammatory conditions with autoimmune characteristics. While both conditions are relatively common, their concurrent occurrence is rare. This case report presents an individual diagnosed with both SpA and TA, detailing the clinical presentation, disease course, and therapeutic interventions. A review of relevant literature is also included to enhance clinical awareness of this uncommon combination. For that patients with SpA who exhibit elevated inflammatory markers, intermittent low-grade fever, fatigue, or inadequate response to standard therapies, it's better to undergo evaluation for the potential presence of TA. Early identification of TA in such cases may help mitigate the risks of misdiagnosis or delayed diagnosis.

Background: The prognostic impact of high mobility group box 1 (HMGB1) in lung adenocarcinoma may depend on its subcellular localization, while the density of tumor-infiltrating lymphocytes (TILs) reflects the host anti-tumor immune response. However, the combined prognostic value of these two factors in early-stage lung adenocarcinoma remains unclear.

Methods: This retrospective study included 112 patients with pathological stage I-II lung adenocarcinoma who underwent complete surgical resection at our institution between 2007 and 2017. None received neoadjuvant chemotherapy or radiotherapy. Immunohistochemistry was performed on formalin-fixed, paraffin-embedded tumor specimens to evaluate HMGB1 subcellular localization and stromal TILs infiltration. The latter was semi-quantitatively assessed according to the International TILs Working Group recommendations and dichotomized using the median value as the cutoff. Clinicopathological variables, including differentiation, pleural invasion, lymphovascular invasion, and pathological stage, were collected and correlated with HMGB1 localization and TIL status. Survival outcomes were analyzed using Kaplan-Meier and Cox proportional hazards models. Multivariable analyses were adjusted according to the events-per-variable (EPV) rules, and model diagnostics included proportional hazards testing and multicollinearity assessment. Interobserver agreement for HMGB1 localization was evaluated using Fleiss'κ statistics.

Results: Cytoplasmic HMGB1 expression and low TIL infiltration were significantly associated with adverse clinicopathological features, including poorer differentiation and higher rates of lymphovascular invasion. Both cytoplasmic HMGB1 and low TIL levels independently predicted a shorter DFS and OS. Patients with the combined phenotype of cytoplasmic HMGB1 and low TIL levels had the worst prognosis, with hazard ratios exceeding those of either factor alone. The integrative model based on HMGB1 localization and TIL status enhanced the prognostic discrimination beyond conventional clinicopathological parameters.

Conclusions: HMGB1 subcellular localization and TIL infiltration are independent prognostic biomarkers of early-stage lung adenocarcinoma. An integrative model combining these parameters provides enhanced risk stratification and may inform individualized postoperative management strategies.