Laboratory Medicine

Serum expression of tumor marker CA242 in patients with different gynecological diseases

Abstract Objective The aim of this study was to investigate the serum levels of CA242 in different types of gynecological diseases and its clinical significance. Methods A total of 1021 patients with gynecological diseases and 499 healthy female controls were included in the study. The serum CA242 levels were detected and median value, −log10P value, and positive rate were calculated. Serum CA125 and HE4 levels of patients with ovarian lesions were measured, and the predictive value for ovarian cancer was statistically analyzed. Results Higher serum CA242 levels were observed in patients with mature teratoma, ovarian cancer, and other gynecological tumor diseases than in healthy controls. In contrast, the CA242 levels in patients with cervical intraepithelial neoplasia, uterine polyps, or endometrial hyperplasia were comparable to that of controls. Moreover, serum CA242 expression was increased in malignant uterine and ovarian diseases compared with benign ones (P < .05). Specifically, combining CA242, CA125, and HE4 yielded a higher area under the receiver operating characteristic curve than single biomarkers (P < .05). Conclusion Heterogeneous increases in tumor marker CA242 expression levels are observed in different gynecological diseases, suggesting its potential value for clinical diagnosis.

Utility of PAX1 / JAM3 methylation analysis for triage of high-risk HPV-positive individuals

Abstract Introduction We sought to assess the clinical utility of methylation detection of paired box gene 1 (PAX1) and junctional adhesion molecule 3 (JAM3) in the triage of individuals testing positive for high-risk human papillomavirus (HPV). Methods Cervical secretions from 312 high-risk HPV–positive patients were analyzed for dual-gene methylation of PAX1 and JAM3 (PAX1m/JAM3m). Methylation levels were compared across histologically confirmed cervical lesions. Using histopathology as the reference standard, the triage performance of PAX1m/JAM3m was evaluated against cytology and HPV-16/18 genotyping. Results Methylation positivity increased in statistical significance with lesion severity (P < .001 for trend). For the detection of cervical intraepithelial neoplasia (CIN) 2 or more severe lesions (CIN2+), PAX1m/JAM3m yielded a sensitivity of 91.8% (95% CI, 84.1%-96.2%), specificity of 90.7% (95% CI, 85.7%-94.1%), and an area under the receiver operating characteristic curve of 0.912 (95% CI, 0.874-0.951), outperforming cytology, HPV-16/18 genotyping, and their combinations. Using PAX1m/JAM3m positivity as a criterion for colposcopy referral, 1 CIN2+ case was detected per 1.22 referrals, reducing the colposcopy referral rate by approximately 19.2% and increasing the CIN2+ detection rate by 39.4% compared with cytology at the atypical squamous cells of undetermined significance threshold. Discussion PAX1m/JAM3m levels are strongly associated with cervical lesion severity and represent a promising triage strategy for high-risk HPV–positive individuals.

EUS-FNA Diagnosis of a Metastatic Adult Granulosa Cell Tumor in the Stomach

AbstractGranulosa cell tumors are uncommon ovarian neoplasms, predominantly of the adult type (AGCT). In this report, we present a rare case of a patient with metastatic AGCT to the stomach diagnosed with endoscopic ultrasound–guided fine-needle aspiration (EUS-FNA). A 61-year-old woman without a history of AGCT underwent both a vaginal and an abdominal ultrasound that showed a solid and cystic ovarian mass along with a solid mass in the gastric antral wall. Subsequently, an EUS-FNA was performed to assess the gastric lesion. Cytologic findings showed high cellularity, and the groups of neoplastic cells invaded the muscle layer of the stomach. Notably, these cells formed Call-Exner bodies, whereas some nuclei exhibited nuclear grooves. Immunohistochemistry was performed, revealing positivity for α-inhibin, calretinin, and CD56 in the neoplastic cells, whereas chromogranin, synaptophysin, CD117, and DOG1 were negative. The combination of clinical presentation, radiology, cytomorphology, and immunohistochemistry could facilitate the diagnosis of metastatic AGCT and the management of such patients.