Search

Summary Aims The objective of this study was to compare the protein expression profile between well-differentiated (papillary) and undifferentiated (anaplastic) thyroid carcinoma in Tunisian patients. Methods This first Tunisian retrospective study concerned data of 38 thyroid cancer cases (19 papillary carcinoma PTC and 19 anaplastic carcinoma ATC) collected at Salah Azaiez Institute of Tunisia. Immunohistochemistry was used to evaluate tumor expression of different molecular markers (p53, Ki67, E-cadherin, cyclin D1, bcl2, S100 and Her-2). The molecular expression was correlated with the clinicopathological characteristics of the tumors. Results There were 6 differentially expressed markers when comparing anaplastic thyroid carcinoma ATC with papillary thyroid carcinoma PTC. Expression of p53 and Ki67 were significantly increased in 16 and 18 ATC cases respectively, the Ki67 expression was lost in PTC. Cyclin D1, E-cadherin, bcl2 and S100 were overexpressed in PTC tumors; however, they were significantly decreased in ATC. The last marker, Her-2 was expressed in one case of PTC only. Conclusion Our results, similar with findings of other ethnic groups, showed alteration in expression of molecular markers associated with tumor dedifferentiation, indicating loss of cell cycle control with increased proliferative activity in ATC carcinoma. These data support the hypothesis that ATC may derive from dedifferentiation of preexisting PTC tumor.

Background In the Tunisian population, as yet a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer. These mutations are located in a few exons of BRCA1/2 . The aim of the present study was to search for these mutations in 66 unrelated patients with hereditary breast and/or ovarian cancer in order to assess the interest in such a targeted approach for genetic testing in Tunisia. Materials and Methods Blood specimens from the 66 Tunisian patients, with family history of breast and/or ovarian cancer, were collected at the Salah Azaiz Cancer Institute of Tunis. The exons 5, 20 and part of exon 11 of BRCA1 as well as part of exons 10 and 11 of BRCA2 were analyzed by Sanger sequencing. Results 12 patients had deleterious mutations in the BRCA1 or BRCA2 genes (18%), including a novel frame-shift mutation of BRCA1 (c.3751dup; 3780insT). Four distinct BRCA1 mutations were detected eight patients: c.5266dup (5382insC) and c.211dup (330insA) each in three patients, c.3751dup (3870insT) and c.4041_4042del (4160delAG) each in one patient. The four remaining cases all carried the same BRCA2 mutation, c.1310_1313del (1538delAAGA). Besides these deleterious mutations, eight polymorphisms and unclassified variants were detected, one of them being never reported ( BRCA1 c.3030T>G, p.Pro1010Pro). Conclusion In this study, we show that targeting relevant exons in BRCA1 and BRCA2 genes allows detection of a substantial percentage of mutations in the Tunisian population. Therefore such an approach may be of interest in genetic testing of high-risk breast and ovarian cancer families in Tunisia.

Male breast cancer is rare compared to its female counterpart representing less than 1% of cancer in men. The objective of our retrospective study is to report the epidemiologic and clinical profile and to analyse the therapeutic results and prognostic factors in a Tunisian population collected during a period of 20 years at a single institution. We collected from 1979 to 1999, all the histological confirmed male breast cancers treated at our institution. We analyse the following data: age, clinical presentation and features, therapeutic protocol, results and prognostic factors. Survival was done with the Kaplan-Meier method and comparison with the log-rank test. 123 cases of male breast carcinoma were collected with a median age of 65 years. Most patients (62.2%) have an advanced T4 disease with bilateral lesions in 4 cases. Infiltrating ductal carcinoma represent 91% of all tumours. 85% of tumours expressed hormonal receptor. The treatment consisted in a radical mastectomy in 93 cases (84%) followed by radiotherapy, chemotherapy and in many cases by hormonotherapy. After a median follow up of 26 month, 22 patients presented loco regional recurrence and 41 metastases. Estimated 5-year survival rate was 62%. The presence of metastasis, nodal involvement, advanced disease, and grade affected survival. Male breast cancer represent at our institution 1 % of the male cancers treated comparable to the literature data. T4 tumours represent a higher rate, the treatment approach is the standard applicable in breast cancer; prognostic factors are the classical one like breast cancer in women.