Distribution of high-risk human papillomavirus in women with ASC-US or LSIL in Tunisian women: Place of HPV testing for women triage in Tunisia.

The present study aimed to evaluate the distribution of oncogenic HPVs in Tunisian women diagnosed with ASC-US or LSIL in order to highlight the importance of HPV testing in the management of women with minor cytological lesions. The study involved 213 cervical samples from women aged from 18 to 82 years and diagnosed with ASC-US or LSIL. HPV detection and genotyping was performed by nested PCR followed by reverse Line Blotting. HPV DNA was identified in 161 cases (76.3%). Oncogenic HPV genotypes were detected in 53.1% of cases. The most frequent high-risk genotypes in this study were HPV16 (28.8%) followed by: HPV51 (9.6%), HPV18, HPV31 HPV56 (7.1%) and HPV45 (5.1%). Thus, 24 % of studied women were not infected by HPV and about 47% of infections are without oncogenic HPV. These results highlight the value of HPV testing in the decision algorithm of management of minor abnormalities lesions.

BRAF V600E and Novel Somatic Mutations in Thyroid Cancer of Libyan Patients.

BACKGROUND: Thyroid cancer (TC) is a common endocrine malignancy that frequently harbours the oncogenic V600E BRAF mutation. This mutation has received considerable attention in recent years for its potential utility in the risk stratification and management of TC. This study aims to investigate BRAF mutational status in thyroid cancer of Libyan patients and their association with clinicopathological factors. METHODS: 44 thyroid tissue samples were analysed for mutations in exon 15 of the BRAF gene by performing polymerase chain reaction and Sanger sequencing. The results of BRAF mutation screening were correlated to clinical and pathological characteristics of the studied thyroid cancer patients. Statistical analyses were performed using SPSS. RESULTS: The BRAF exon 15 mutations were detected in 19 (43.2%) of the thyroid cancer cases. The V600E was the most frequent one found in 15/44 (34.1%) cases. We also detected 6 other variants in 7 patients (15.9%), the S616F, the W619R and the T599S. Three mutations were associated with V600E, the L584I, the D587Y and the synonymous L597L. None of these mutations were reported previously in thyroid cancers. No statistical association was found between BRAF mutations and clinicopathological factors except with papillary thyroid cancer type (p= 0,032). CONCLUSIONS: Novel BRAF mutations and V600E were frequently detected in thyroid cancer of Libyan patients; this suggests a potential role of these novel mutations in carcinogenesis and in anti-EGFR therapy resistance.

Pre-vaccination prevalence and genotype distribution of human papillomavirus infection among women from urban Tunis: a cross-sectional study.

BACKGROUND: To estimate the pre-vaccination distribution of human papillomavirus (HPV) types among women from urban Tunis. MATERIALS AND METHODS: A total of 611 women aged 18-69 years were enrolled in three local gynaecological outpatient departments. All underwent a gynaecological examination with Pap test and dry swab for HPV detection and typing performed by linear array genotyping test (Roche). Cytological examination was conducted on conventional Pap smears. RESULTS: HPV DNA was found in 6.5% of the women; the most frequent HPV types were HPV 16 and HPV 11 at 3.27% and 1.96%, respectively. The second most frequent high risk (HR) HPV type was HPV 58 (0.82%) followed by HPV 18, HPV 31 and HPV 33 found in only 0.33% of women. Single infections with HPV types, targeted by the quadrivalent vaccine (6, 11, 16, and 18), were detected in 3.6 % of the study patients (55% of positive women). HPV infection was found in 3.83% of women with normal cytology and in 47.4% of women with cytological abnormalities. No statistically significant trend in prevalence by age group emerged for any HPV type or for high or low risk types. CONCLUSIONS: These data show a relatively low prevalence of HPV infection in women from urban Tunis with a high proportion of HPV16 and HPV58. This should be considered in the upcoming screening programs and vaccination strategy.

Clinical and mutational heterogeneity of Darier disease in Tunisian families.

OBJECTIVE: To study the mutation spectrum and phenotype-genotype correlation of Darier disease (DD) in Tunisian patients. DESIGN: Case series. SETTING: Referral center: Department of Dermatology (La Rabta Hospital), Tunis, Tunisia. PATIENTS: Eight large Tunisian families with DD, with a total of 23 patients and 9 unaffected family members. MAIN OUTCOME MEASURE: Patients were investigated at the clinical, histological, and genetic levels. Families were genotyped with 5 microsatellite markers spanning the ATP2A2 gene. Mutation screening was performed by direct sequencing of the coding region and exon/intron boundaries of the ATP2A2 gene. RESULTS: Typical clinical features of DD were constantly present. Phenotypic variation within and between the studied families was observed. Different neuropsychiatric disorders were seen in 5 families, and various cutaneous and extracutaneous original clinical associations were observed. The haplotype analysis led to the identification of different haplotypes cosegregating with the disease in the studied families. Mutation screening of the ATP2A2 gene revealed 3 recurrent mutations (119-120delAG, R677X, and D702N) and 4 novel variations: 2 missense mutations (G217A and L900R), one microinsertion (2772-2779 ins C), and one microdeletion (1747-1749 del 2T). CONCLUSIONS: Our findings provide evidence for clinical and mutational heterogeneity of Tunisian families with DD. No obvious phenotype-genotype correlation was established. To our knowledge, this is the first molecular investigation of DD in the North African population.