[Molecular characterization of lynch syndrome in Tunisia]

High rates of early colorectal cancers [CRC] are observed in Tunisia suggesting genetic susceptibility. Nevertheless, up to now no molecular studies have been performed in the Tunisian population. To evaluate the clinical and genetic characteristics of Tunisian families suspected of hereditary nonpolyposis colorectal cancer [HNPCC] and to identify new tumoral markers for CRC susceptibility leading to distinguish patients with sporadic CRC from those with familial CRC, like HNPCC. 31 unrelated families suspected of HNPCC were screened for germline mutations in MMR genes. We have also analyzed tumoral phenotype and the genetic characteristics of tumors from 51 patients with CRC meeting the Bethesda criteria. 10 different germ line mutations, 8 of which were novel, were identified in 11 out of the 31 families [35.5%], 5 in MSH2 and 5 in MLH1. Our results showed that MUC5AC expression was more frequent in patients with family history of CRC [p=0.039]. The analysis of MUC5AC expression might be very beneficial in the detection of Tunisian patients with high susceptibility to CRC

[Penetrance of BRCA1 gene mutation and DNA mitochondrial in Tunisian breast cancer occurrence]

The aim of this study is to evaluate the implication of BRCA1 gene and the mitochondrial micro satellite [situated between 303 and 315 positions] mutations in the occurrence of breast cancer in Tunisia. Nine Tunisian patients with hereditary breast cancer have been analyzed. For each patient, total genomic DNA was extracted and used as a template for the amplification of 24 exons of the BRCA1 gene and an hyper variable mitochondrial region. The obtained products were purified and automatically sequenced. The results revealed five types of mutations for the micro satellite situated between the 303 and 315 positions and two deleterious BRCA1 mutations for two unrelated patients which present the same mitochondrial mutation [315. ins C] suggesting his implication in the modulation of the BRCAI deleterious mutations penetrance

radiochimiotherapie concomitante preoperatoire dans le cancer du col uterin: resultats preliminaires

This is a retrospective study of patients treated for cancer cervix staged IB2, IIA or lIB with bulky tumor [>4cm]. Treatment was concurrent radiotherapy [45Gy with I,8Gy daily fraction] and chemotherapy [5 cycles of Platinum 40mg/m2/week]. All patients. underwent Brachytherapy [l5Gy on the reference isodose according to Paris system] followed by surgery [radical abdominal hysterectomy and bilateral pelvic lymphadenectomy: Piver 3]. Between October 1999 and December 2002, forty five patients were treated in this protocol. Median age was 46 years [21- 68]. Histology was squamous cell carcinoma in 93% and glandular carcinoma in 7%. Average external radiation dose was 44Gy [20-50]. Ninety three% of patients had at least 3 cycles of chemotherapy and 46,5% received the planned 5 cycles. On the operative specimens, there was 62,5% complete response and only 7 pelvic node involvement [17,5%]. Four postoperative complications were noted [one vascular injury, one urinary fistula, one phlebitis and one lymph collection]. Preoperative combined radiotherapy and chemotherapy in the early bulky stages of uterine cervix cancer is well tolerated and "gives" a high rate of sterilisation. There was no increase in surgical morbidity

Seric neuron specific enolase in pediatric neuroblastoma. Retrospective results about 21 patients

To report the results of seric neuron specific enolase in pediatric neuroblastoma. Our retrospective study concerns 21 children treated in our institution from 1992 to 1998 for neuroblastoma. Seric NSE was determined by immunoenzymology technique at different stages of the disease and the treatment Mean value for the 39 dosages of the whole patients was 127.9 ng/ml with a sensitivity of 56 percent five patients has presented normal values. Mean value for the 18 patients in stage IV was 132.38 ng/ml. we also observed in 3 patients, an evolution of the seric NSE parallel to this of the disease under chemotherapy. NSE represents a moderate sensitive and specific tumor marker for pediatric neuroblastoma. However, it represents a good value in prognosis and follow-up after chemotherapy

Gastric malt lymphoma. A clinico-pathological study of 65 cases. Relationship to Helicobacter pylori

We report 65 cases of MALT gastric lymphomas. HP was looked for with Giemsa and Whartin Starry stains. Immunohistochemistry was done with PAP method. Anti-HP treatment was used in 9 cases. 38 were of low grade of malignancy, 23 were high grade, 4 were high grade with a low grads component. The mean age was 51.5 years, the sex ratio 1.5. Epigastric pain was the most frequent feature [87.7 percent of cases]. Endoscopically, low grade lymphomas presented as unique or multiple ulcerations [55.3 percent of cases] with antral localization [52.6 percent of cases]. 60 percent of our patients were stage IE, of which 61 percent had low grade lymphoma, 18 percent were at stage 112E, 10 percent at stage III and 10 percent at stage IV. From 23 operated patients, 29 percent had early lymphoma which was low grads malignant in 71.5 percent of cases, and 71 percent had lymphomas which were wi-dely spread beyond the submucosa. HP was found in 63 percent of cases. Histologic regression of two early lymphomas of low grade malignancy was achieved after HP eradication