Testicular Synovial Sarcoma:A Case Report

This paper reports a case of testicular synovial sarcoma with molecular genetic analysis.A 24-year-old male presented with painless scrotal mass.Ultrasonography showed a heterogeneous mass of 66 mm×34 mm in size involving the inguinal region.Histological examination of a surgical biopsy showed a gradeⅢmonophasic growth pattern of spindle cell proliferation.Immunohistochemical analyses indicated positive staining for pancytokeratine and epithelial membrane antigen.Cytogenetic analysis showed the presence of CYT-SSX1 mutation,and CT scan showed non-specific pleural micro-nodules with a size of 7.5 mm.The patient had an extended left orchidectomy but was lost to follow-up for 1 year.A local recurrent scrotal mass of 32 mm×25 mm,multiple inguinal lymph nodes,and increased pleural nodules,which were confirmed by histological examination,were treated with three cycles of adriamycine and ifosfamide chemotherapy,surgical resection,and radiotherapy with complete response.After 3 months,the patient developed local recurrence and pulmonary metastases that did not respond to second-line chemotherapy based on gemcitabine and paclitaxel.The patient had dyspnea at the time of this writing and chest pain,and is under third-line chemotherapy based on Deticene after 30 months of following up.This patient died on November 16,2012 after a resperatory failure and malignant plural effusion. Synovial sarcoma should be considered in the differential diagnosis of soft tissue tumor and it should be aggressively treated to improve prognosis.Although our patient has shown numerous factors of bad prognosis,he has had a relatively long survival time.     

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. In this context, heterozygous mutations in NOBOX, BMP15 and GDF9 have been reported. The objective of our study was to evaluate the prevalence of these genes mutations in 125 unrelated Tunisian patients diagnosed with POI. The screening of NOBOX gene revealed three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients. These mutations were not found in a 200 ethnically matched women without fertility problem. The sequencing of BMP15 and GDF9 gene revealed only previously reported variants. In contrast to previous studies, the prevalence of BMP15 variations is not higher than in the control population. Conversely, 6.4% of the cases present a NOBOX mutations; this high prevalence strengthens the consideration of NOBOX gene as strong autosomal candidate for POI.     

Evidence of Circulation of Several HAV Genetic Variants and Emergence of Potential Antigenic Variants in an Endemo-Epidemic Country before Vaccine Introduction

Similar to several other countries in the world, the epidemiology of hepatitis A virus changed from high to intermediate endemicity level in Tunisia, which led to the occurrence of outbreaks. This study aimed to determine the genetic and antigenic variability of HAV strains circulating in Tunisia during the last few years. Genotyping using complete VP1 gene and VP1-2A junction confirmed the predominance of genotype IA, with co-circulation of several genetic and antigenic variants. Phylogenetic analysis including Tunisian and strains from other regions of the world showed the presence of at least two IA-variants within IA subgenotype. Amino-acid analysis showed several mutations in or close to epitope regions in the VP1-region. This study provides a baseline on the genetic and antigenic variability of HAV circulating strains before the introduction of vaccination into the national immunization schedule.     

Circulation and Molecular Epidemiology of Enteroviruses in Paralyzed,Immunodeficient and Healthy Individuals in Tunisia,a Country with a Polio-Free Status for Decades

This report is an overview of enterovirus (EV) detection in Tunisian polio-suspected paralytic cases (acute flaccid paralysis (AFP) cases), healthy contacts and patients with primary immunodeficiencies (PID) during an 11-year period. A total of 2735 clinical samples were analyzed for EV isolation and type identification, according to the recommended protocols of the World Health Organization. Three poliovirus (PV) serotypes and 28 different nonpolio enteroviruses (NPEVs) were detected. The NPEV detection rate was 4.3%, 2.8% and 12.4% in AFP cases, healthy contacts and PID patients, respectively. The predominant species was EV-B, and the circulation of viruses from species EV-A was noted since 2011. All PVs detected were of Sabin origin. The PV detection rate was higher in PID patients compared to AFP cases and contacts (6.8%, 1.5% and 1.3% respectively). PV2 was not detected since 2015. Using nucleotide sequencing of the entire VP1 region, 61 strains were characterized as Sabin-like. Among them, six strains of types 1 and 3 PV were identified as pre-vaccine-derived polioviruses (VDPVs). Five type 2 PV, four strains belonging to type 1 PV and two strains belonging to type 3 PV, were classified as iVDPVs. The data presented provide a comprehensive picture of EVs circulating in Tunisia over an 11-year period, reveal changes in their epidemiology as compared to previous studies and highlight the need to set up a warning system to avoid unnoticed PVs.