Secondary hypophysitis associated with Rathke's cleft cyst resembling a pituitary abscess.

Background: Although rare, cases of hypophysitis resembling a pituitary abscess (PA) have been reported. Differential diagnosis between hypophysitis and PA is crucial as the two diseases require different treatments. Case Description: A 38-year-old woman with headaches underwent head magnetic resonance imaging (MRI), which revealed an 11-mm mass lesion in the sella turcica. Due to breastfeeding, contrast-enhanced MRI was avoided. Pituitary adenomas and Rathke's cleft cyst (RCC) were suspected, and she was initially treated conservatively. Five months later, she acquired syndrome coronavirus two infections, and while the fever subsided with acetaminophen, the headache persisted. One month later, the headache worsened, followed by fever and diabetes insipidus. MRI revealed a pituitary cystic mass with ring-shaped contrast enhancement on T1-weighted MRI and increased signal intensity on diffusion-weighted imaging (DWI). PA was suspected, and emergency endoscopic transsphenoidal surgery was performed. The microbiological examination of the yellowish-brown content drained from the cystic mass was negative. Microscopically, the cystic lesion was covered with ciliated columnar epithelium and stratified squamous epithelium, with a dense inflammatory cell infiltrate consisting mainly of lymphocytes and plasma cells observed around the cyst. This supported the diagnosis of secondary hypophysitis associated with RCC without PA. Conclusion: We report a case of hypophysitis secondary to RCC resembling PA with ring-shaped contrast enhancement on MRI and increased signal intensity on DWI. This case emphasizes the need for cautious diagnosis of secondary hypophysitis due to RCC in individuals with MRIs and clinical manifestations resembling an abscess.

Can endometrial cytology identify patients who would benefit from immunotherapy?

INTRODUCTION: Patients with POLE (polymerase epsilon) mutation (POLEmut)-subtype, MMR-deficient (MMR-d)-subtype as classified by the Cancer Genome Atlas (TCGA), and a high tumor mutation burden (TMB-high) potentially benefit from immunotherapy. However, characteristics of the cytological morphology within these populations remain unknown. METHODS: DNA extracted from formalin fixed paraffin embedded tissues was subjected to next-generation sequencing analysis. Genomic mutations related to gynecological cancers, TMB, and microsatellite instability (MSI) were analyzed and were placed in four TCGA classification types. The following morphological cytological investigations were conducted on endometrial cancer using a liquid-based preparation method, prior to the commencement of initial treatment: i) cytological backgrounds; ii) differences between each count of neutrophils and lymphocytes as described below. RESULTS: Insignificant differences in the cytological background patterns of TCGA groups and TMB status were found. Although there was no significant difference in neutrophil count (p= 0.955) in the TCGA groups, POLEmut and MMR-d had significantly higher lymphocyte counts than no specific molecular profile (NSMP) (p= 0.019 and 0.037, respectively); furthermore, p53mut also tended to be significant (p= 0.064). Lymphocyte counts in TMB-high were also significantly greater than TMB-low (p= 0.002). POLEmut showed a positive correlation between TMB levels and lymphocyte counts. For predicting patients with POLEmut plus MMR-d, lymphocyte counts demonstrated a superior diagnostic accuracy of Area Under the Curve(AUC)(0.70, 95% CI: 0.57-0.84), with a cut-off value of 26 high-power field(HPF). CONCLUSION: Lymphocyte count using liquid-based cytology for patients with endometrial cancer may predict POLEmut plus MMR-d of TCGA groups and TMB-high in those who can benefit from immunotherapy.

Cervical Cytology Preserves Histologically Detected Surface Epithelial Slackening, Unique to the POLE Mutation-subtype in Endometrial Cancer.

BACKGROUND/AIM: Among the four genomic subtypes of endometrial cancer, distinguishing between the DNA polymerase epsilon mutation (POLEmut) and no specific molecular profile (NSMP) subtypes requires genomic profiling owing to the lack of surrogate immunohistochemical markers. We have previously found that, histologically, the POLEmut-subtype exhibits surface epithelial slackening (SES). Therefore, to improve subtype identification, we aimed to extract cytological features corresponding to SES in POLEmut-subtype cervical cytology specimens. MATERIALS AND METHODS: We analyzed 104 endometrial cancer cervical cytology specimens, with integrative diagnosis confirmation via histology, immunohistochemistry, and genomic profiling. Cytological features were evaluated for the presence of atypical glandular cells, atypical cell appearance in single cells and clusters, and cytological SES and the presence of tumor-infiltrating inflammatory cells in clusters. RESULTS: Based on cervical cytology, the POLEmut- and p53mut-subtypes exhibited more frequent atypical cells in smaller clusters, giant tumor cells, and cytological SES patterns than the NSMP-subtype. Tumor-infiltrating lymphocytes were frequent in the POLEmut- and mismatch repair-deficient subtypes. CONCLUSION: Histologically-detected SES as well as other endometrial cancer features may be preserved in the atypical cell clusters observed in cervical cytology specimens. Cytological detection of SES and of smaller clusters of atypical cells and inflammatory cells with moderate atypia are suggestive of POLEmut-subtype. Integrative diagnosis including genomic profiling remains critical for diagnostic confirmation.

Oscillating Gradient Diffusion-Weighted MRI for Risk Stratification of Uterine Endometrial Cancer.

BACKGROUND: Oscillating gradient diffusion-weighted imaging (DWI) enables elucidation of microstructural characteristics in cancers; however, there are limited data to evaluate its utility in patients with endometrial cancer. PURPOSE: To investigate the utility of oscillating gradient DWI for risk stratification in patients with uterine endometrial cancer compared with conventional pulsed gradient DWI. STUDY TYPE: Retrospective. SUBJECTS: Sixty-three women (mean age: 58 [range: 32-85] years) with endometrial cancer. FIELD STRENGTH/SEQUENCE: 3 T MRI including DWI using oscillating gradient spin-echo (OGSE) and pulsed gradient spin-echo (PGSE) research sequences. ASSESSMENT: Mean value of the apparent diffusion coefficient (ADC) values for OGSE (ADCOGSE ) and PGSE (ADCPGSE ) as well as the ADC ratio (ADCOGSE /ADCPGSE ) within endometrial cancer were measured using regions of interest. Prognostic factors (histological grade, deep myometrial invasion, lymphovascular invasion, International Federation of Gynecology and Obstetrics [FIGO] stage, and prognostic risk classification) were tabulated. STATISTICAL TESTS: Interobserver agreement was analyzed by calculating the intraclass correlation coefficient. The associations of ADCOGSE , ADCPGSE , and ADCOGSE /ADCPGSE with prognostic factors were examined using the Kendall rank correlation coefficient, Mann-Whitney U test, and receiver operating characteristic (ROC) curve. A P value of <0.05 was statistically significant. RESULTS: Compared with ADCOGSE and ADCPGSE , ADCOGSE /ADCPGSE was significantly and strongly correlated with histological grade (observer 1, τ = 0.563; observer 2, τ = 0.456), FIGO stage (observer 1, τ = 0.354; observer 2, τ = 0.324), and prognostic risk classification (observer 1, τ = 0.456; observer 2, τ = 0.385). The area under the ROC curves of ADCOGSE /ADCPGSE for histological grade (observer 1, 0.92, 95% confidence intervals [CIs]: 0.83-0.98; observer 2, 0.84, 95% CI: 0.73-0.92) and prognostic risk (observer 1, 0.80, 95% CI: 0.68-0.89; observer 2, 0.76, 95% CI: 0.63-0.86) were significantly higher than that of ADCOGSE and ADCPGSE . DATA CONCLUSION: The ADC ratio obtained via oscillating gradient and pulsed gradient DWIs might be useful imaging biomarkers for risk stratification in patients with endometrial cancer. LEVEL OF EVIDENCE: 3 TECHNICAL EFFICACY: Stage 2.

Low-grade Fibromyxoid Sarcoma With Massive Degeneration: A Case of Unusual Gross and Histological Features.

BACKGROUND: Low-grade fibromyxoid sarcoma (LGFMS) is a rare type of sarcoma which is observed in the soft tissue of proximal extremities, typically in young and middle-aged adults. It consists of a solid proliferation of bland spindle cells within collagenous and myxoid stroma. CASE REPORT: Herein, we report a case of LGFMS with massive degeneration and hyalinization. A 30-year-old man presented with a well-circumscribed mass measuring 15 cm in diameter in his left biceps femoris muscle. Marginal tumor resection was performed under the clinical diagnosis of an ancient schwannoma or chronic expanding hematoma (CEH). The resected tissue revealed a well-demarcated tumor mass with massive degeneration and hyalinization with focal calcification. Proliferation of spindle tumor cells with abundant collagenous stroma, which resembled the fibrous capsule of CEH, was observed exclusively in a small area of the periphery of the tumor. No nuclear palisading, myxoid stroma, or collagen rosettes were identified. Immunohistochemical analysis demonstrated that the spindle tumor cells expressed mucin 4 and epithelial membrane antigen. Reverse transcriptase-polymerase chain reaction analysis detected mRNA expression of fused in sarcoma::CAMP-responsive element binding protein 3-like protein 2 (FUS::CREB3L2) fusion gene. Thus, a final diagnosis of LGFMS with massive degeneration and FUS::CREB3L2 fusion was made. CONCLUSION: The recognition of massive degeneration and hyalinization as unusual features of LGFMS might be helpful to differentiate it from CEH and other benign spindle-cell tumors.

Molecular biological analysis revealed a case of synchronous endometrial and ovarian cancer with different histological grade as metastatic ovarian cancer from endometrial cancer: Case report and review of literature.

The diagnosis of synchronous endometrial and ovarian cancer or metastatic cancer of the same histological type is difficult. In this study, molecular biology analysis was performed to determine ovarian metastasis from endometrial cancer. A 38-year-old woman had pathological evidence of endometrial cancer (endometrioid carcinoma, grade 1) and ovarian cancer (endometrioid carcinoma, grade 3); a disseminated nodule in the serosa uteri was also diagnosed as endometrioid carcinoma (grade 3). Customized panel sequencing revealed a common mutation pattern in ovarian cancer and disseminated nodules. Furthermore, endometrial cancer showed the same mutation patterns for FGFR3 and PTEN as ovarian cancer and disseminated nodules. All tumors were microsatellite instability high. Clinicopathological and molecular biology analyses suggested that the patient had ovarian metastasis from endometrial cancer. The patient underwent adjuvant chemotherapy with paclitaxel and carboplatin, with no recurrence. Molecular biology techniques may enable appropriate treatment based on clinically accurate diagnosis.

Application of Machine Learning Analyses Using Clinical and [18F]-FDG-PET/CT Radiomic Characteristics to Predict Recurrence in Patients with Breast Cancer.

PURPOSE: To develop and identify machine learning (ML) models using pretreatment clinical and 2-deoxy-2-[18F]fluoro-D-glucose positron emission tomography ([18F]-FDG-PET)-based radiomic characteristics to predict disease recurrences in patients with breast cancers who underwent surgery. PROCEDURES: This retrospective study included 112 patients with 118 breast cancer lesions who underwent [18F]-FDG-PET/ X-ray computed tomography (CT) preoperatively, and these lesions were assigned to training (n=95) and testing (n=23) cohorts. A total of 12 clinical and 40 [18F]-FDG-PET-based radiomic characteristics were used to predict recurrences using 7 different ML algorithms, namely, decision tree, random forest (RF), neural network, k-nearest neighbors, naive Bayes, logistic regression, and support vector machine (SVM) with a 10-fold cross-validation and synthetic minority over-sampling technique. Three different ML models were created using clinical characteristics (clinical ML models), radiomic characteristics (radiomic ML models), and both clinical and radiomic characteristics (combined ML models). Each ML model was constructed using the top ten characteristics ranked by the decrease in Gini impurity. The areas under ROC curves (AUCs) and accuracies were used to compare predictive performances. RESULTS: In training cohorts, all 7 ML algorithms except for logistic regression algorithm in the radiomics ML model (AUC = 0.760) achieved AUC values of >0.80 for predicting recurrences with clinical (range, 0.892-0.999), radiomic (range, 0.809-0.984), and combined (range, 0.897-0.999) ML models. In testing cohorts, the RF algorithm of combined ML model achieved the highest AUC and accuracy (95.7% (22/23)) with similar classification performance between training and testing cohorts (AUC: training cohort, 0.999; testing cohort, 0.992). The important characteristics for modeling process of this RF algorithm were radiomic GLZLM_ZLNU and AJCC stage. CONCLUSIONS: ML analyses using both clinical and [18F]-FDG-PET-based radiomic characteristics may be useful for predicting recurrence in patients with breast cancers who underwent surgery.

"Surface epithelial slackening" pattern in endometrioid carcinoma: A morphological feature for differentiating the POLE mutation-subtype from the no specific molecular profile subtype.

Endometrial cancers are classified into mismatch repair (MMR) deficient- (MMRd), p53 mutation- (p53mut), DNA polymerase epsilon (POLE) mutation (POLEmut), and no specific molecular profile (NSMP) subtypes according to The Cancer Genome Atlas (TCGA). The distinction between POLEmut and NSMP subtypes is made on the basis of molecular analysis because the specific histological and immunohistochemical features of these two subtypes are still unknown. In this study, we analyzed histological features by scoring the presence of a mucinous pool, giant cells, clear cells, keratinization, neutrophilic abscess, and surface proliferating pattern in 82 cases of endometrial cancers in which an integrative diagnosis was confirmed by immunohistochemistry and genomic profiles showing POLE mutations, tumor mutation burden, and microsatellite instability. In contrast to the hierarchical branching of micropapillary proliferation observed in serous carcinoma, POLEmut-subtype endometrioid carcinomas often showed a surface epithelial slackening (SES) pattern in the tumor cells facing the uterine surface. The POLEmut subtype exhibited higher scores for clear cells and SES patterns than the other three subtypes. The scores for giant cells, clear cells, and the SES pattern were significantly higher in the POLEmut subtype than in the NSMP subtype, suggesting that these morphometric parameters are useful for differentiating POLEmut- and NSMP-subtype endometrioid carcinomas, although genomic profiling is still necessary for a definite molecular diagnosis.

Cytopathological features associated with POLE mutation in endometrial cancer.

OBJECTIVE: For patients with endometrial cancer, the POLE (polymerase epsilon) mutation (POLEmut)-subtype, one of four molecular-analysis-based categories in the Cancer Genome Atlas (TCGA), has the best prognosis. The following histological characteristics are typically observed in endometroid carcinoma cases with the POLEmut-subtype: (1) the presence of tumour giant cells, (2) numerous tumour-infiltrating lymphocytes (TILs) and/or peri-tumoral lymphocytes, and (3) a high grade. However, in the context of cytology, the morphological characteristics of this subtype remain unknown. METHODS: DNA extracted from formalin-fixed paraffin-embedded (FFPE) tissues was subjected to next-generation sequencing analysis and categorised according to the TCGA classifications. Genomic mutation, tumour mutation burden (TMB), and microsatellite instability were also assessed. Cytological specimens of resected uteri obtained using the Papanicolaou method were histologically separated into three types. RESULTS: Seven out of 112 patients (6%) with endometrial cancer were diagnosed with the POLEmut-subtype between January 2019 and August 2021. Tumour giant cells were observed in three cases (43%) on histology and cytology. TIL and/or peritumoral lymphocytes with inflammatory cells were detected in five cases (71%) on histology and three cases (43%) on cytology. Cases in which these three characteristics were observed on both cytology and histology may have belonged to the POLEmut-subtype. There were no cases in which these characteristics were absent on histology but present on cytology. TMB tended to be higher in cases when the three characteristics were observed in both cytological and histological findings. CONCLUSIONS: Preoperative endometrial cytology highlighted the characteristics of the POLEmut-subtype in the histological analysis of resected uterine specimens and has the potential to play an important role in treatment decisions.

IDH-mutant astrocytoma with an evolutional progression to CDKN2A/B homozygous deletion and NTRK fusion during recurrence: A case report.

We reported a case of molecularly defined isocitrate dehydrogenase (IDH)-mutant astrocytoma that recurred twice with aggressive behavior and increased anaplastic morphology. Primary and recurrent tumors were analyzed using custom-made DNA-based cancer gene and RNA-based fusion panels for next-generation sequencing (NGS). NGS analyses revealed that recurrent astrocytoma, in addition to IDH1 and tumor protein 53 mutations detected in the primary lesion, harbored cyclin-dependent kinase inhibitor (CDKN) 2 A/B homozygous deletion and neurotrophic tropomyosin receptor kinase 2 (NTRK2) fusion genes that consisted of golgin A1- and cyclin-dependent kinase 5 regulatory subunit associated protein 2-NTRK2 fusions. Anaplasia and necrosis were observed in the recurrent tumors, but not in the primary lesion. Therefore, the integrative diagnosis was primary IDH-mutant astrocytoma grade 2 and recurrent IDH-mutant astrocytoma grade 4 with NTRK2 fusions. This is a worthwhile report describing a case of IDH-mutant astrocytoma that showed genomic evolution during tumor recurrence. Our report suggests that NTRK fusion and CDKN2A/B homozygous deletion promote high-grade transformation and indicate an unfavorable prognosis of IDH-mutant astrocytoma.

I-131 false-positive uptake in a thymic cyst with expression of the sodium-iodide symporter: A case report.

RATIONALE: I-131 radioiodine false-positive findings in postoperative patients with differentiated thyroid cancer (DTC) should be recognized to avoid unnecessary therapies. PATIENT CONCERNS AND DIAGNOSES: A 50-year-old man underwent I-131 therapy 3 times, including the initial ablative therapy after total thyroidectomy for papillary thyroid cancer. The initial I-131 posttherapeutic whole-body scintigraphy showed 2 cervical and one superior mediastinal focal I-131 positive uptake lesions. The serum thyroglobulin level was negative every time when the radioiodine therapy was performed. Although the 2 cervical positive uptake lesions disappeared after the second therapy, the superior mediastinal I-131 positive uptake persisted even after the third therapy, and this lesion was suspicion of I-131 therapy-resistant node metastasis. INTERVENTIONS AND OUTCOMES: The lesion was resected, and the pathological diagnosis with immune-histochemical analysis was a thymic cyst with thymic epithelial cells having a weak expression of the sodium-iodide symporter (NIS). LESSONS: The false-positive result may be attributed to the NIS expression in the thymic cyst epithelial cells. It is necessary to include a thymic cyst in the differential diagnosis, when I-131 uptake is noted in the superior mediastinal region on I-131 posttherapeutic scans of patients with postoperative DTC. Although the I-131 positive uptake in a thymic cyst may be influenced by the I-131 administered dose and scan timing after I-131 administration, the NIS expression may be essential to the false-positive uptake in a thymic cyst.

A case of autoimmune hepatitis with thymoma and myasthenia gravis.

A 44-year-old woman presented with cough, facial edema, and progressive fatigue. Computed tomography (CT) showed an anterior mediastinal mass, and laboratory findings showed liver injury. She was diagnosed with thymoma and scheduled for thymectomy after radiation and chemotherapy. However, she was referred to our department due to exacerbation of liver injury. Autoimmune hepatitis (AIH) was suspected based on the findings of elevated anti-nuclear antibody and immunoglobulin G levels. Histological findings of a liver biopsy confirmed the diagnosis of AIH. After oral steroid therapy initiation, she had diplopia and ptosis. Five days after steroid treatment, bulbar symptoms, such as nasal voice and dysarthria, appeared. A physical examination and electrophysiological tests confirmed myasthenia gravis (MG), and to prevent MG crisis, immunoadsorption plasmapheresis and tacrolimus were started by the neurologist. MG symptoms and liver damage gradually improved, she was then treated with chemotherapy and radiation for thymoma and underwent thymectomy, now showing no relapse of AIH or MG. We report the first case of MG developing immediately after the introduction of prednisolone for AIH complicated with thymoma.

Pelvic Carcinosarcoma Showing a Diverse Histology and Hierarchical Gene Mutation with a Common POLE Mutation to Endometrial Endometroid Carcinoma: A Case Report.

POLE mutation-type endometrial cancer is characterized by an extremely high tumor mutation burden. Most POLE mutation-type endometrial cancers are histologically endometrioid carcinomas, and POLE mutation-type carcinosarcomas are rare among endometrial cancers. We report a case of endometrial and pelvic cancer in a 53-year-old woman who was analyzed using next-generating sequencing. The endometrial lesion harbored a p.T457del POLE mutation with an elevated tumor mutation burden and low microsatellite instability. The pelvic lesion showed divergent histological features, consisting of high-grade endometrioid carcinoma, neuroendocrine carcinoma, and chondrosarcoma. In addition to the common POLE mutation detected in the endometrial lesion, the pelvic lesion in each element showed additional gene mutations in a hierarchical manner. Therefore, it is indicated that the p.T457del POLE mutation is a pathogenic mutation and may be related to POLE mutation-induced carcinogenesis and divergent morphogenesis in endometrial cancer.

Esophageal plexiform fibromyxoma: A case report with molecular analysis for MALAT1-GLI1 fusion.

Plexiform fibromyxoma (PFM) is a rare gastrointestinal tract tumor that develops in the stomach in most cases. Here, we report an extremely rare case of esophageal PFM. A female in her mid-30 s presented with difficulty in swallowing and breathing. Endoscopic examination revealed a submucosal tumor measuring approximately 45 × 50 mm in the upper thoracic esophagus. The biopsied specimen did not show definite histological evidence of gastrointestinal stromal tumors (GISTs). Since imatinib administration based on a clinical diagnosis of GIST did not show a therapeutic effect for tumor reduction, tumor resection was performed. The resected tumor exhibited proliferation of spindle tumor cells with abundant myxoid and vascular stroma separated by a muscular layer, indicating a plexiform arrangement. Immunohistochemical analysis demonstrated that the tumor cells diffusely expressed vimentin and alpha-smooth muscle actin, but not desmin, c-kit, DOG1, and CD34. MALAT1-GLI1 fusion was detected in formalin-fixed paraffin-embedded tissue using RT-PCR and Sanger sequencing. The results suggested that a fibromyxoid tumor can develop in the esophagus, showing an identical histology and MALAT1-GLI1 fusion to gastric PFM.

Successful management of vulvar proximal-type epithelioid sarcoma in pregnancy.

Vulvar proximal-type epithelioid sarcoma during pregnancy is extremely rare; only two reports are available to date. Herein, we describe a 36-year-old woman who presented with a pigeon-egg-sized solid mass with cystic component on the left labia majora at 18 weeks of gestation. The patient underwent tumor resection at 23 weeks of gestation and was diagnosed with epithelioid sarcoma, proximal-type. At 29 weeks of gestation, elective cesarean section, radical local resection of the vulva and vagina, and inguinal lymphadenectomy were performed. After surgery, she underwent six courses of adjuvant chemotherapy (doxorubicin 60 mg/m2 and cisplatin 50 mg/m2) every four weeks. The patient and her baby survived with neither recurrence nor complications until 5 years. Aggressive management for proximal-type epithelioid sarcoma, such as early termination of pregnancy and operation, can improve maternal outcomes.

Adult Hepatocellular Carcinoma Coexisting with Extramedullary Hematopoiesis.

Extramedullary hematopoiesis (EMH) in adults usually occurs in the liver, spleen, and lymph nodes when bone marrow hematopoiesis fails. EMH has also been recognized in benign or malignant hepatic tumors, such as hepatoblastoma, hepatocellular adenoma, and vascular tumors. However, it is rarely encountered in hepatocellular carcinoma (HCC) in elderly adults, and the molecular mechanism of EMH in hepatic tumors remains unclear. We present a case of a 74-year-old man without any hematopoietic disorders and hepatitis viral infection who underwent hepatic resection for HCC. Histological examination revealed a well-differentiated HCC with trilineage hematopoiesis in the tumor and non-neoplastic liver. The coexistence of HCC and EMH in adult patients with no hematopoietic disorders is very rare and must be distinguished from poorly differentiated or dedifferentiated HCC and hepatoblastoma.

Two Components of Variant Profiles in Primary Vaginal Carcinosarcoma via Next-Generation Sequencing and a Literature Review.

Primary vaginal carcinosarcoma (VCS) is an extremely rare and aggressive tumor consisting of admixed malignant epithelial and mesenchymal elements. We report a case of VCS that was subjected to analysis by immunohistochemistry and next-generation sequencing (NGS). A 53-year-old woman with post-menopausal vaginal bleeding underwent surgical excision followed by concurrent chemoradiation. A well demarcated tumor was growing in a discontinuous fashion at a location some distance from both the cervix and vulva. Microscopically, the tumor consisted of adenocarcinoma components and sarcoma components consisting of a sheet-like growth of spindle-shaped cells, and we diagnosed this tumor as primary vaginal carcinosarcoma. NGS analysis of each component identified the following variants, TP53, PIK3CA, KRAS and FBXW7. A comparison of microsatellite instability (MSI) and tumor mutation burden (TMB) showed that within both tissues the sarcomatous components had a higher MSI and TMB than the carcinomatous components. This case supports "a monoclonal theory" with the genome profile being similar to other malignant mixed Müllerian tumors.

One-step nucleic acid amplification (OSNA) assay for detecting lymph node metastasis in cervical and endometrial cancer: a preliminary study.

OBJECTIVE: To evaluate the accuracy of the one-step nucleic acid amplification (OSNA) assay for the diagnosis of lymph node (LN) metastasis in uterine cancer. METHODS: A total of 116 LNs from 30 patients with cervical and endometrial cancer, enrolled in this prospective study, were used. Excised LNs were cut into 4 to 6 blocks at 2 mm intervals, and nonadjacent blocks were alternately subjected to either histological examination or the OSNA assay. RESULTS: The concordance rate between histological examination and the OSNA assay in cervical cancer and in endometrial cancer was 95.9% and 95.2%, respectively. The sensitivity, specificity, and negative predictive value of the OSNA assay were 80%, 97.7%, and 97.7% in cervical cancer, and 85.7%, 93.3%, and 98.2% in endometrial cancer, respectively. In cervical cancer, discordant results were observed in 2 out of 49 LNs (4.1%); 1 was OSNA assay-positive and histological examination-negative, and 1 was OSNA assay-negative and histological examination-positive. In endometrial cancer, discordant results were observed in 5 out of 67 LNs (7.5%); 4 were OSNA assay-positive and histological examination-negative, and 1 was OSNA assay-negative and histological examination-positive. CONCLUSION: The OSNA assay showed high concordance rate with histological examination, sensitivity, and specificity in uterine cancer, suggesting that it could enhance the accuracy of conventional pathological examination for the detection of LN metastasis by reducing false negative rate.