EVALUATION OF GPX1 PRO198LEU POLYMORPHISM, GSTP1 EXPRESSION AND GENE PROMOTER METHYLATION IN MOROCCAN PATIENTS WITH BLADDER CANCER

Bladder cancer (BC) is the third most common male malignancy in Morocco. The risk factors for developing BC are multiples including dietary conditions, environmental exposure and oxidative stress. Glutathione Peroxidase-1 (GPX1) and Glutathione S-Transferase Pi (GSTP1) are two key enzymes in cell detoxification process. GPX1 Pro198Leu polymorphism is associated with a decrease of enzyme activity and may contribute to BC susceptibility. Deregulated expression of GSTP1 enzyme was reported in various human tumors, also, epigenetic silencing of GSTP1 gene by aberrant promoter methylation has been shown to be involved in the molecular pathway for cancer development. In this study, we aimed to assess the presence of GPX1 Pro198Leu polymorphism and determine the expression status of GSTP1-in relation to its promoter methylation- in Moroccan population to evaluate their association with the risk of developing BC in Moroccan patients. Genotyping of GPX1 Pro198Leu polymorphism was carried out by Sanger sequencing. GSTP1 expression was assessed by immunohistochemistry, GSTP1 promoter methylation status was studied by Methylation Specifiq PCR method. No significant association between GPX1 Pro198Leu polymorphism and BC occurrence was found (Pro/Leu vs. Pro/Pro: p=0.425). For the analysis of Pro198Leu polymorphism and progression of BC, no association was observed neither for stages (Pro/Leu vs. Pro/Pro: p=0.500) nor grades (Pro/Leu vs. Pro/Pro: p=0.415). GSTP1 expression was strong in 23.33%, moderate in 60% and weak in 13.33% of BC cases. Variability of the expression does not correlate with high-grade cancer or invasive-stage (p˃0.05). No GSTP1 promoter methylation was detected in all cases. Our results showed that GPX1 Pro198Leu polymorphism and GSTP1 expression are not closely associated with the risk of BC in our population, suggesting that the effect of these biomarkers on BC development might be a result of a combination with other genetic and epigenetic alterations and/or non-genetic variables such as diet and lifestyle factors

ASSESSMENT OF MOLECULAR BIOMARKERS FOR BLADDER CANCER DIAGNOSIS, GRADING AND PROGNOSIS

Worldwide, bladder cancer is a very significant public health problem, in terms of prevalence, mortality and management for individuals and their families. Bladder cancer is the fourth most commonly diagnosed cancer in men and one of the heaviest cancers in terms of cost. Although transurethral resection of the bladder followed by intravesical instillation of live attenuated Bacillus Calmette–Guérin (BCG) is considered as the gold standard for patients with intermediate and high risk, only a small portion of patient responds to the BCG-therapy. Bladder cancer management is faced by the therapy failure, great side effects and some difficulties in histological classification. Accordingly, growing interest is given to the use of genetic, epigenetic and immunologic biomarkers for molecular signature characterization and tumor stratification. In Morocco, great efforts have been made to contribute to the improvement of management of bladder cancer and many studies were made to evaluate some genetic and epigenetic biomarkers. Generated data is of a great interest for characterization of bladder cancer tumors in Morocco and could be used for better management of this disease

BRAFV600E hot spot mutation in thyroid carcinomas: first Moroccan experience from a single-institution retrospective study

Background: The incidence of thyroid cancer is increasing worldwide at an alarming rate. BRAFV600E mutation is described to be associated with a worse prognostic of thyroid carcinomas, as well as extrathyroidal invasion and increased mortality. Objective: To our knowledge, there are no reported studies neither from Morocco nor from other Maghreb countries regarding the prevalence of BRAFV600E mutation in thyroid carcinomas. Here we aim to evaluate the frequency of BRAFV600E oncogene in Moroccan thyroid carcinomas. Methods: In this Single-Institution retrospective study realized in the Anatomic Pathology and Histology Service in the Military Hospital of Instruction Mohammed V \u2018HMIMV\u2019 in Rabat, we report, using direct genomic sequencing, the assessment of BRAFV600E in 37 thyroid tumors. Results: We detected BRAFV600E mutation exclusively in Papillary Thyroid Carcinomas \u2018PTC\u2019 with a prevalence of 28% (8 PTC out 29 PTC). Like international trends, Papillary Thyroid Carcinomas \u2019PTC\u2019 is more frequent than Follicular Thyroid Carcinomas \u2018FTC\u2019 and Anaplastic Thyroid Carcinomas \u2018ATC\u2019 (29 PTC, 7 FTC and 1 ATC). Conclusion: Our finding gives to the international community the first estimated incidence of this oncogene in Morocco showing that this prevalence falls within the range of international trends (30% to 90%) reported in distinct worldwide geographic regions

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance

INTRODUCTION Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic. RATIONALE We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs). RESULTS Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants. CONCLUSION Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century

Madura foot: Report of a eumycetoma Moroccan case

Madura foot is a chronic infectious disease, caused by bacterial actinomycetes or by fungi. Mycetoma is endemic in tropical and subtropical areas, where it is a real public health issue. It is a rare and neglected disease in our country. The diagnosis is made by clinical picture, direct microscopic examination and histological study. The best therapeutic choice is surgical removal of the lesion, followed by medical treatment. An earlier diagnosis and treatment can elicit good results. We report a case of eumycetoma in a 33 year-old Moroccan man, rural worker, treated by Ketoconazole in 12 months, associated with surgical debridement. The evolution was marked by the complete remission of the infection

Cutaneous plasmacytosis: Report of a Moroccan case!!

Cutaneous plasmacytosis is a rare entity that has been reported almost exclusively in Asian countries and is usually seen in adult males. Primary cutaneous plasmacytosis clinically is characterized by multiple red-brown plaques and nodules typically located on the trunk. We report a case of a Moroccan 65-year-old man presented multiple infiltrated red plaques on the extremities and the trunk, the diagnosis of cutaneous plasmacytosis was retained without systemic involvement. To our knowledge, this is the first case of this type reported in a Moroccan adult man

Chondrosarcome né sur un ostéochondrome solitaire: à propos d’un cas

Le chondrosarcome est une tumeur osseuse maligne rare. Elle peut être primitive ou secondaire à une transformation maligne d'une tumeur cartilagineuse bénigne sous-jacente. Le chondrosarcome secondaire découlant d'un ostéochondrome solitaire bénin est extrêmement rare et les données montrent que l'incidence rapportée de l'ostéochondrome du bassin est très faible. Nous rapportons le cas d'un patient âgé de 20 ans présentant un chondrosarcome secondaire à la transformation maligne d'un ostéochondrome de l'aile sacro-iliaque droite

Strangled by His Nerves—Cervical Plexiform Neurofibroma With Infantile Spinal Neurofibromatosis: Case Report in a 14 Years Old Child

Background: Neurofibromatoses are a rare group of autosomal dominant tumor suppressor phacomatoses syndromes. Neurofibromatosis type 1 (NF1 or Von Recklinghausen’s disease) is the most commonly found type of neurofibromatosis, and constitutes the most commonly found autosomal dominant disease of the nervous system. Case presentation: We report a case of a 14-year-old boy who reported a 3-year-history of a slowly enlarging right lateral cervical mass. He has a medical history of a progressive limping gait disorder with scoliotic attitude. MRI identified a dumb-bell shaped intradural right cervical process through right paravertebral gutter on C2 to C4, a second intradural dorsal mass with the same characteristics through left paravertebral gutter on D4 and D5 and a large tissue-like mass infiltrating the lumbosacral subcutaneous soft tissues. A Surgical excision of the cervical and lumbar masses was performed with a good outcome after surgical excision. Conclusions: This case illustrates the need for a collaboration of both neurological and head and neck surgeons in terms of managing difficulties related to a cervical neurofibroma. Benign plexiform neurofibromas are rapidly growing tumors, particularly in children and adolescents, which makes all the importance of early detection and appropriate treatment. Repeated interventions are usually needed in order to adapt and stabilize the tumors extension