Search

AbstractWe aimed to investigate the promoter methylation status of RASSF1A and RASSF2A tumor suppressor genes in endometrial endometrioid carcinomas with p53 wild type and mismatch repair proficient. Genomic DNAs were isolated from 50 specimens (15 formalin-fixed paraffin embedded tumor tissues, 15 paired blood samples and 20 normal endometrial tissues). Bisulfide modification and methylation-specific polymerase chain reaction were performed. As a result of the study, while no significance was found for RASSF1A gene (p = 0.08), a statistically significance was found for RASSF2A gene (p < 0.001), RASSF2A gene methylation status was also found higher in high grade tumors, advanced age (≥50) and nonsmokers groups. Our results indicate that RASSF2A gene may play a role in the carcinogenesis of endometrioid and it could be potential biomarker for early detection for endometrioid carcinoma. Further and larger investigations are needed to confirm our results. [ABSTRACT FROM AUTHOR]

A perivascular epithelioid cell tumor (PEComa) is an uncommon mesenchymal tumor composed of perivascular epithelioid cells. These tumor cells show variable immunoreactivity for both melanocytic and myogenic markers. Occurrence of PEComa has been reported at various anatomical sites, including the gynecological tract, uterus being the most common. Although most patients have sporadic PEComas, a subset may be associated with the inactivation of TSC1 or TSC2 genes and the occurrence of TFE3 gene fusions. However, a relationship between PEComas and other tumors is rare. We report a 41-year-old female patient with malignant PEComa who was admitted to the hospital with a complaint of vaginal bleeding. Because she had previously been diagnosed with colorectal and breast carcinomas at an early age, we performed a comprehensive genetic analysis to identify molecular alterations present in her background that unveiled multiple malignancy predispositions. Next-generation sequencing (NGS) analysis revealed two heterozygous germline pathogenic variants in the ATM and TP53 genes and a heterozygous variant of unknown significance (VUS) in the BRCA2 gene. The patient was diagnosed with the Li-Fraumeni Syndrome owing to the medical and family history and also the presentation of a pathogenic mutation of the TP53 gene. There are very few case reports in the literature describing PEComa in the Li-Fraumeni syndrome, and this is the first report of a uterine PEComa in a patient with Li-Fraumeni syndrome. [ABSTRACT FROM AUTHOR]

Aim: Fine-needle aspiration cytology (FNAC) in the preoperative diagnosis of salivary gland (SG) masses is a very fast, inexpensive, and reliable diagnostic method. In our study, the correlation of cytological-histopathological diagnosis in cases diagnosed with fine needle aspiration cytology in our clinic was investigated, and possible causes of diagnostic entrapment in discordant cases were discussed. Material and Methods: Salivary gland FNAC cases with histopathological diagnosis between 2008 and 2019 were retrospectively analyzed. The age, gender, localization of the lesion, preoperative cytology, and postoperative histopathological diagnosis of the patients were recorded. Cytology results were analyzed in 5 categories: unsatisfactory, uncategorized, benign, suspected malignancy, and malignant. Histopathology results were recorded in 2 groups benign-nonneoplastic and malignant. Statistically significant difference level was accepted as p<0.05. The validity of the cytology result according to the biopsy result was evaluated by sensitivity, specificity, positive predictive value, and negative predictive value. Results: 316 cases of salivary gland fine needle aspiration were detected. 156 (49.4%) of 316 cases had histopathological diagnosis. When calculating the cytological-histopathological diagnosis, the cases that were found to be inadequate and uncategorized by cytology were not taken into consideration. The suspected malignancy group was evaluated within the malignant category. Therefore, diagnostic agreement was calculated in 124 cases. Of these 124 cases, 116 (93.6%) cytology-histopathology diagnosis were compatible, and 8 (6.4%) were not. In our series, the overall sensitivity and specificity were 83.3% and 97.7%, respectively. The positive predictive value was 93.7% and the negative predictive value was 93.4%. The accuracy rate was calculated as 93.5%. Conclusion: In our study, high sensitivity and specificity values were determined by FNAC in accordance with the literature. It should be kept in mind that there may rarely be differences between preoperative cytological and histopathological diagnoses, possibly due to experience, method, and lesion-related limitations and pitfalls. [ABSTRACT FROM AUTHOR]

Abstract Background The aim of this study was to assess the relationship between expression of vascular endothelial growth factor (VEGF) and phosphatase and tensin homolog deleted in chromosome ten (PTEN), angiogenesis and clinicopathological parameters of squamous cell carcinoma of the larynx. Methods We examined immunohistochemical expression of VEGF and PTEN and CD34 for microvessel density (MVD) in sections of formalin-fixed, paraffin embedded tissue blocks of 140 patients with squamous cell carcinoma of the larynx. The intensity of VEGF and PTEN staining and the proportion of cells staining were scored. Results The tumor grade was not significantly related to PTEN expression, but it was to VEGF expression (p = 0.400; p = 0.015, respectively). While there was no significant relationship between PTEN expression and tumor size and cartilage invasion (p = 0.311, p = 0.128), there was a significant relationship between the severity of VEGF expression and tumor size (p = 0.006) and lymph node metastasis (p = 0.048) but not cartilage invasion (p = 0.129). MVD was significantly higher in high-grade tumors (p = 0.003) but had no significant relationship between MVD, lymph node metastasis, and cartilage invasion (p = 0.815, p = 0.204). There was also no significant relationship between PTEN and VEGF expression (p = 0.161) and between PTEN and VEGF expression and the MVD (p = 0.120 and p = 0.175, respectively). Conclusions Increased VEGF expression may play an important role in the outcome of squamous cell carcinoma of the larynx. PTEN expression was not related to VEGF expression and clinicopathological features of squamous cell carcinoma of the larynx.

Background: The aim of this study was to assess the relationship between expression of vascular endothelial growth factor (VEGF) and phosphatase and tensin homolog deleted in chromosome ten (PTEN), angiogenesis and clinicopathological parameters of squamous cell carcinoma of the larynx. Methods: We examined immunohistochemical expression of VEGF and PTEN and CD34 for microvessel density (MVD) in sections of formalin-fixed, paraffin embedded tissue blocks of 140 patients with squamous cell carcinoma of the larynx. The intensity of VEGF and PTEN staining and the proportion of cells staining were scored. Results: The tumor grade was not significantly related to PTEN expression, but it was to VEGF expression (p = 0.400; p = 0.015, respectively). While there was no significant relationship between PTEN expression and tumor size and cartilage invasion (p = 0.311, p = 0.128), there was a significant relationship between the severity of VEGF expression and tumor size (p = 0.006) and lymph node metastasis (p = 0.048) but not cartilage invasion (p = 0.129). MVD was significantly higher in high-grade tumors (p = 0.003) but had no significant relationship between MVD, lymph node metastasis, and cartilage invasion (p = 0.815, p = 0.204). There was also no significant relationship between PTEN and VEGF expression (p = 0.161) and between PTEN and VEGF expression and the MVD (p = 0.120 and p = 0.175, respectively). Conclusions: Increased VEGF expression may play an important role in the outcome of squamous cell carcinoma of the larynx. PTEN expression was not related to VEGF expression and clinicopathological features of squamous cell carcinoma of the larynx. [ABSTRACT FROM AUTHOR]

A perivascular epithelioid cell tumor (PEComa) is an uncommon mesenchymal tumor composed of perivascular epithelioid cells. These tumor cells show variable immunoreactivity for both melanocytic and myogenic markers. Occurrence of PEComa has been reported at various anatomical sites, including the gynecological tract, uterus being the most common. Although most patients have sporadic PEComas, a subset may be associated with the inactivation of TSC1 or TSC2 genes and the occurrence of TFE3 gene fusions. However, a relationship between PEComas and other tumors is rare. We report a 41-year-old female patient with malignant PEComa who was admitted to the hospital with a complaint of vaginal bleeding. Because she had previously been diagnosed with colorectal and breast carcinomas at an early age, we performed a comprehensive genetic analysis to identify molecular alterations present in her background that unveiled multiple malignancy predispositions. Next-generation sequencing (NGS) analysis revealed two heterozygous germline pathogenic variants in the ATM and TP53 genes and a heterozygous variant of unknown significance (VUS) in the BRCA2 gene. The patient was diagnosed with the Li-Fraumeni Syndrome owing to the medical and family history and also the presentation of a pathogenic mutation of the TP53 gene. There are very few case reports in the literature describing PEComa in the Li-Fraumeni syndrome, and this is the first report of a uterine PEComa in a patient with Li-Fraumeni syndrome.

< strong > Objective: < /strong > Medullary thyroid carcinoma (MTC) is a rare tumor originating from parafollicular C cells. It has more aggressive biologic behavior than differentiated thyroid carcinomas, and it is insensitive to treatment with radioactive iodine. Vandetanib and cabozantinib are the newly approved tyrosine kinase inhibitors in advanced stages, but novel effective systemic therapeutics could be crucial and needed for the clinical management of these patients. We aimed to evaluate the Programmed death-ligand 1 (PD-L1) expression, which is a novel immunotherapy target, in our MTC cohort, and determine whether it has an association with clinical and pathological features. < strong > Material and Method: < /strong > This retrospective study involved 41 cases of MTC with a median follow-up of 54 months. PD-L1 monoclonal antibody (SP263 clone) was investigated immunohistochemically. Complete and/or partial membranous staining pattern in more than 1% of tumor cells was considered positive. The correlations of PD-L1 expression with clinicopathologic and prognostic features were analyzed. < strong > Results: < /strong > PD-L1 positivity was detected in 5 (12.2%) of 41 tumors. The extent of PD-L1 staining was low ( < 5%) for all tumors. There was no clinicopathologic and prognostic relevance regarding PD-L1 expression in our MTC patients. < strong > Conclusion: < /strong > Although PD-L1 expression could be a potential biomarker to predict the prognosis of various cancers and response to checkpoint inhibitors, we did not find any significant correlation between PD-L1 expression and clinicopathologic features in our cases. Studies with larger patient numbers are still required to perform a more comprehensive analysis.

The coexistence of renal cell carcinoma and non-Hodgkin's lymphoma is more common than expected in the general population; however, renal cell carcinoma with infiltration by non-Hodgkin's lymphoma has rarely been reported. Here we report on a 77-year-old patient who presented with small lymphocytic lymphoma in the jugulodigastric lymph node. He underwent nephrectomy for a renal mass 5 months later. On histopathological examination, the mass was diagnosed as a grade III renal cell carcinoma with infiltrated small lymphocytic lymphoma that was positive for B-cells (CD20). This case is discussed in terms of the coexistence of these tumors and tumor to tumor metastasis.