CpG methylation of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) and P53 mutation pattern in sporadic colorectal cancer.

The ubiquitin-proteasome system plays an essential regulatory role in various cellular processes. Besides its involvement in normal cellular functions, the alteration of proteasomal activity contributes to the pathological states of several clinical disorders, including cancer. Aberrant methylation of the CpG islands has been reported as an alternative way to inactivate gene expression involved in the ubiquitination process and thus protein degradation in tumor tissues. In this study, we aimed to determine the CpG methylation pattern of the UCHL1 promoter, as well as the mutation spectrum and the expression pattern of P53 in sporadic colorectal cancer (CRC) from Tunisian patients. We found that UCHL1 was methylated in 68.57 % and correlated significantly with lymph node metastasis (P = 0.029) and transcriptional silencing in tumor tissues (P = 0.013). Mutation screening of exons 5-9 of P53 showed that 42.85 % of cases harbor somatic mutation and are positively correlated with the methylated pattern of UCHL1 (P = 0.001). Furthermore, cytoplasmic accumulation of P53 was strongly associated with the unmethylated UCHL1 profile (P = 0.006), supporting the relationship between these two proteins in CRC.

Lymphoepithelial carcinoma of the parotid gland.

Primary lymphoepithelial carcinoma of the salivary glands is an exceptional oncological condition that predominantly emerges within the parotid gland. A significant prevalence of lymphoepithelial carcinoma has been reported in the Inuit population, along with an associated positive serology for Epstein-Barr virus in these endemic regions. In this paper, we present a case of primary lymphoepithelial carcinoma of the parotid gland in a 68-year-old female patient with a history of diabetes and hypertension residing in a non-endemic area. Histology plays a critical role in the definitive diagnosis, and confirming the primary origin of lymphoepithelial carcinoma after ruling out metastasis from undifferentiated nasopharyngeal carcinoma. The mainstay of treatment is a combination of surgical resection and adjuvant radiotherapy. Inoperable forms are typically managed with chemoradiotherapy.

[Fetal cytomegalovirus infection diagnosed on autopsy: a case report]. / Infection fœtale à cytomégalovirus de diagnostic autopsique: à propos d'un cas.

The cytomegalovirus (CMV) is the most common maternal-fetal transmission infectious disease. The diagnosis of this infection is rarely made on antenatal sonographic signs. Pathological examination could, in this case, make etiologic diagnosis. We report the case of a terminated pregnancy, at the term of 19 weeks of gestation, occurring in a 31-year-old woman. The sonography found a terminated pregnancy with anamnios. Histological examination of samples of fetal internal organs showed intranuclear inclusions, compatible with CMV infection. The main objective of our work is to emphasize the value of histological examination in the diagnosis of fetal death etiology. Moreover, we will discuss the benefit of antenatal screening of CMV maternal infection.

Liver injury in COVID-19: pathological findings.

Hepatic injuries have been reported in patients with Coronavirus disease 2019 infection, particularly in those with moderate to severe illness. To date, pathological changes caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in liver tissue are unclear. Moreover, the mechanisms involved in liver injury in Coronavirus disease 2019 infection are not yet established. In this paper, we summarize the spectrum of pathologic findings of liver injury in patients infected by SARS-CoV-2 and we discuss the clinicopathological correlation and the mechanisms of liver damage in Coronavirus disease 2019 infection.

Pemphigus herpetiformis in a 4-year-old child: Case report and review of the literature.

Pemphigus herpetiformis (PH) is a rare form of pemphigus, especially when occurring in childhood. Misdiagnosis is common in this age group. The disease exhibits diverse clinical and histological aspects. Further immunological investigations should be performed in order to make the right diagnosis with a correct management strategy.

Cystic renal oncocytoma: A rare case report.

Cystic renal lesions are extremely common. The major clinical concern is differentiating simple renal cysts from complex cysts to assess the risk of malignancy. The Bosniak classification of renal cystic tumors is employed to distinguish benign cysts from potential malignant cysts. Benign renal tumors can be rarely encountered in Bosniak type 4 cysts. Herein, we report a case of 56-year-old female with a single right mediorenal solid-cystic mass classified bosniak 4. An open surgery was planned: There was a 2-cm-sized cystic tumor, mediorenal, in contact with the hilum. A lumpectomy was performed. Anatomopathological examination revealed a cystic oncocytoma.

[Uncommon retroperitoneal and bone lesions: Erdheim-Chester disease]. / Lésion rétropéritonéale et osseuse rare : maladie d'Erdheim-Chester.

We report a case of Erdheim-Chester disease, revealed by a polyuropolydipsic syndrome. During the patient's work-up, osteocondensing lesions were found; the biopsy of these lesions showed an infiltration by spumous cells of histiocytic lineage, CD68+, CD1a-, associated with a lymphoid infiltrate within an extensive fibrosis. Lung and retroperitoneal lesions were discovered. The surgical resection of the involved ureter was required. Histological examination of the resected specimen showed the same pattern of histiocytic infiltration. Our case report underlines the variety of lesions associated with Erdheim-Chester disease and the importance of a complete exploration.

RIP140 and LCoR expression in gastrointestinal cancers.

The transcription coregulators RIP140 and LCoR are part of a same complex which controls the activity of various transcription factors and cancer cell proliferation. In this study, we have investigated the expression of these two genes in human colorectal and gastric cancers by immunohistochemistry. In both types of tumors, the levels of RIP140 and LCoR appeared highly correlated. Their expression tended to decrease in colorectal cancer as compared to adjacent normal tissues but was found higher in gastric cancer as compared to normal stomach. RIP140 and LCoR expression correlated with TNM and tumor differentiation. Significant correlations were observed with expression levels of key proteins involved in tumor progression and invasion namely E-cadherin and Cyclooxygenase-2. Survival analysis showed that patients with LCoRlow/RIP140high colorectal tumors have a significant prolonged overall and disease-free survival. In gastric cancer, high LCoR expression was identified as an independent marker of poor prognosis suggesting a key role in this malignancy. Altogether, these results demonstrate that RIP140 and LCoR have a prognostic relevance in gastrointestinal cancers and could represent new potential biomarkers in these tumors.

Primary Gingival Melanoma: An Important Entity.

Primary melanoma of the mandibular gingiva is extremely rare. It is often misinterpreted as a benign pigmented process. The prognosis of this entity is very poor. We report here the first case of primary gingival melanoma described in the Tunisian literature about a 55-year-old smoker having cerebral and pulmonary metastases from gingival melanoma at diagnosis. Our patient underwent brain radiotherapy at a dose of 18 Gy in three sessions but he died with a decline of 3 months before starting systemic therapy. Therefore, each new case should be illustrated to make clinicians aware about the importance of the early diagnosis to improve the poor diagnosis of this entity.

Bone metastases from gastrointestinal stromal tumor: a case report.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. Their most common metastatic sites are the liver and the peritoneum, but GISTs rarely metastasize to the bones. We report a case of a 58-year-old man with sternoclavicular joint metastasis from a GIST manifesting 28 months after surgical resection of the small intestine tumor. We will discuss through this paper and a literature review the clinical characteristics, imaging features, and management of this unusual metastatic location of GIST.