A rare case of a giant cell tumour caused by vitamin D deficiency

Reparative giant cell granulomas are benign masses of multi-etiological nature, which account for 1%–7% of all benign lesions of the jaws. The objective of this case report is to present the relationship between isolated vitamin D deficiency and the development of reparative giant cell granuloma. Herein, we present the case of a 70-year-old female patient with a painless mass of increased mobility in the mandibular region, and pain in the involved teeth. After histological confirmation and laboratory screening, а reparative giant cell granuloma caused by serious deficiency of vitamin D3 - (25-OH)D was diagnosed. The treatment protocol included surgical removal of the lesion and vitamin D replacement therapy. In rare cases, this type of lesion can be a primary manifestation of vitamin D deficiency; therefore, it is extremely important to be aware of this pathology

Testicular Adrenal Rest Tumors (TARTS) With Unusual Histological Features in Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) patients with testicular adrenal rest tumors (TARTs) with testicular enlargement present a serious diagnostic challenge. According to the data TARTs are usually benign. They are rare, resulting in paucity in the medical literature regarding their pathological features. We report a case of bilateral synchronous mass-forming TARTs with marked cytological and nuclear atypia misinterpreted as malignant testicular tumors in a 40-years-old man with CAH and CT and MRI data for pheochromocytoma of the right adrenal gland and paraaortal and paracaval lymphadenomegaly. He was previously diagnosed with adrenal cortical carcinoma of the left adrenal gland

Expression of Snail and Twist compared with clinical and pathological parameters in patients with gastric cancer

Introduction: Epithelial-mesenchymal transition (EMT) is a process of change in the cellular phenotype from epithelial to mesenchymal morphology. The changes at the cellular level can explain the great heterogeneity and plasticity in the different histological subtypes of gastric carcinomas, which causes difficulties in therapy. In it, epithelial cells reduce intercellular adhesion, which is crucial in the process of invasion and metastasis of gastric carcinomas. Inhibition of cell adhesion molecules such as E-cadherin is known to be influenced by a number of transcription factors, such as Snail and Twist. Materials and methods: Our study aims to examine immunohistochemically the expression of the transcription factors Snail and Twist in 69 patients with gastric cancer and to look for a link between their expression and clinical and pathological characteristics. Results: Positive expression of Snail and Twist was observed in all cases studied by us. We observed heterogeneity and different intensity of immunohistochemical expression. There is a correlation between the immunohistochemical expression and the degree of differentiation of tumor cells and the tumor stage. The cells of poorly differentiated adenocarcinomas show diffuse and strong nuclear staining. No correlation was found between the expression of the two markers, age, and sex of the patients. Conclusions: Evaluating the expression of the two markers studied may help to assess tumor progression and prognosis. They can be used for more accurate and effective diagnosis in precancerous lesions and in early gastric cancer because they are not expressed in the normal gastric mucosa

Immunohistochemical phenotype of colorectal carcinoma in patients with KRAS mutation and mismatch repair status

Introduction: Aberrant expression of CK7/CK20/CDX2 is reported in percentage of colorectal carcinomas (CRC). Aim: The objective of this study was to investigate specific morphological and immunohistochemical characteristics of colorectal carcinoma with KRAS mutation status and microsatellite instability. Materials and methods: Seventy-one patients with CRC and examined KRAS mutation status were included in the investigation. Immunohistochemistry was performed using antibodies to CK7, CK20, CDX2, PMS2, and MSH6. An automatic immunostainer (Ventana BenchMark GX) was used following the manufacturer’ instructions. Fisher’s exact test was used for statistical analysis (p value <0.05). Results: Immunohistochemical analysis was performed for CK7, CK20, CDX2, PMS2, and MSH6. Aberrant expression of the typical immunohistochemical profile CK7/CK20/CDX2 was observed in 50% of the cases. The highest sensitivity and specificity were established for CDX2, with 93% of the cases demonstrating positive nuclear expression in the tumor cells. As for the microsatellite status, 20% of the examined colorectal cancers showed loss in expression for one or both of the mismatch repair proteins - PMS2 and MSH6, which was associated with loss of expression for CK20 and CDX2 as well. Downhill correlation was found also between CK20 expression and the presence of mutation in the gene for KRAS. Conclusions: Our results may support the heterogeneity of colorectal carcinoma. Statistically significant correlation was found between the expression of CK20 and CDX2 and microsatellite deficient and KRAS mutant colorectal cancers. This may lead to application of immunohistochemical screening panel for selection of patients with CRC for genetic testing. Further studies on large cohorts correlating different immunohistochemical profiles to molecular subtypes of colorectal carcinoma are needed for better understanding of the pathogenesis and behavior of colorectal carcinoma

Immunohistochemical expression of CK20, CK7, and CDX2 in colorectal carcinoma in correlation with pathomorphological characteristics

Introduction: Colorectal carcinoma is the third most common cancer worldwide. The usual immunophenotype of colorectal adenocarcinoma is CDX2 positive, CK20 positive, and CK7 negative. Aberrant expression is reported in a variety of colorectal carcinomas but its relation to morphological variables and survival data is still unclear. Aim: The aim of this study was to investigate the correlation between the aberrant immunostaining of colorectal carcinoma and different clinicopathological characteristics. Materials and methods: Immunohistochemical expression of CK20, CK7, and CDX2 was evaluated in 71 cases of colorectal carcinoma. Statistical analysis was performed to identify correlations between the morphological characteristics and the immunoprofile of colorectal carcinoma. Results: Positive cytoplasmic and/or membranous signal for CK20 was observed in 66.2% of colorectal carcinomas. CK7 positive immunostaining was seen in 7% of the cases. In terms of combined expression of CK20 and CK7, the proportion of immunoprofile CK20+/CK7− was the highest, accounting for 46 out of 71 colorectal carcinomas, followed by CK20−/CK7−, then CK20−/CK7+ and CK20+/CK7+. Concerning CDX2, the majority of colorectal carcinomas (87.3%) showed positive staining. Statistically significant correlation was established between CDX2 expression and histologic grade and depth of tumour invasion. Loss of CK20 positivity was associated with higher histologic grade. No association between CK7 expression and histopathologic features was established. Conclusions: The results support the heterogeneity of colorectal cancer. Over 35% of the cases in this study showed deviations from the expected immunoprofile. This should be taken into consideration when diagnosing colorectal carcinoma in metastatic regions