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Ben Rekaya M.,Tunis el Manar University | Laroussi N.,Tunis el Manar University | Messaoud O.,Tunis el Manar University | Jones M.,Tunis el Manar University | And 14 more authors.
BioMed Research International | Year: 2014

Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG-009252.1: g.36847-40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa. © 2014 Mariem Ben Rekaya et al. Source

Bendifallah S.,APHP | Bendifallah S.,University Pierre and Marie Curie | Werkoff G.,APHP | Werkoff G.,University Pierre and Marie Curie | And 10 more authors.
Surgical Oncology | Year: 2010

Multifocality in breast cancer is a frequent phenomenon, whose prevalence may vary between 13 and 75%. The differences in estimation of the prevalence of multifocality across studies may be explained by the differing definitions used for multifocality and multicentricity; this inconsistency makes it difficult to analyze the literature on the subject. The incidence of multifocality is probably often underestimated. Currently, the diagnosis relies on imaging. The performance of mammography is relatively low, but the addition of breast ultrasonography can improve diagnostic sensitivity. Recently, breast magnetic resonance imaging (MRI) has been shown to be more accurate for detecting multifocality compared to conventional imaging. However, this modality is associated with high rates of false-positives that could result in inappropriate disease management. Thus, the use of MRI is not recommended as a first-line technique for diagnosing multifocality. The diagnosis of multifocality is important for breast cancer management, particularly with regards to the choice of surgery. A finding of multifocality may spur a decision to perform a wider excision that will avoid positive margins. Regarding the results of conservative surgery in the presence of multifocality, studies are contradictory, and no international consensus exists. Multifocality may also modify the management of the axillary basin; studies have shown that multifocality is associated to an over-risk of 20% of lymph node invasion. The sentinel node biopsy has been considered as an alternative to complete axillary lymph node dissection by the American Society of Clinical Oncology. The prognostic value of multifocality is still not well known, although some studies have suggested that it is associated with a worst prognosis. Further studies are needed to better assess the impact of multifocality on breast cancer prognosis. © 2009 Elsevier Ltd. All rights reserved. Source

Chabbert-Buffet N.,APHP | Chabbert-Buffet N.,University Pierre and Marie Curie | Uzan C.,Institute Gustave Roussy | Gligorov J.,Departement dOncologie Medicale | And 5 more authors.
Surgical Oncology | Year: 2010

Breast cancer (BC) is the most frequently occurring cancer in women; early diagnosis and efficient treatments create higher event-free and overall survival rates. However, the mean age at first pregnancy continues to increase worldwide; the question of pregnancy after BC is thus raised more frequently. Chemotherapy may induce premature ovarian failure, depending largely on the woman's age and the drugs used, as well as the dosage and duration of treatment. It is important that fertility preservation strategies are addressed before chemotherapy. Pregnancy after BC may implicate a potentially higher risk of cancer recurrence, but the available literature provides reassuring data. The delay between cancer treatment and pregnancy should be discussed, depending on the initial stage of the disease. The risk of discontinuing tamoxifen prematurely should be carefully evaluated using standardised tools. The pregnancy outcome may as well be impaired by the history of cancer, leading to an increased likelihood of preterm birth and low birth weight rates. Proper follow-up and prevention should be provided based on the knowledge of these complications. Pregnancy after BC should be possible for most young BC patients in the future. This implies a global care program including multi-disciplinary teams is initiated prior to starting adjuvant treatment and particularly chemotherapy. The patient and her partner should be involved in the various steps of the process, after being properly informed. © 2009 Elsevier Ltd. All rights reserved. Source

Ray-Coquard I.,Center Leon Berard | Selle F.,Departement dOncologie Medicale | Cottu P.,University Pierre and Marie Curie | Pujade Laurraine E.,Departement dOncologie Medicale
Oncologie | Year: 2012

Despite the improvement in surgical management for ovarian carcinoma, it remains the most aggressive gynaecologic cancer with the ability to kill patients. Finding new treatments that can improve survival rate is an urgent need for these patients. Antiangiogenics with bevacizumab in association with chemotherapy has demonstrated their capability to decrease the risk of relapse and death for high-risk patients. Parp inhibitors seem to confirm their capabilities in efficiently treating high-grade serous carcinoma, notably for patients with BRCA mutations. Finally, other pathways are on clinical trials to confirm their importance in the treatment of ovarian carcinoma (folates inhibitors, PI3K inhibitors, c-MET inhibitors...). © 2011 Springer-Verlag France. Source

Agopian B.,Institut Universitaire de France | Dassonville O.,Institut Universitaire de France | Chamorey E.,Departement de Statistiques Medicales | Poissonnet G.,Institut Universitaire de France | And 10 more authors.
Revue de Laryngologie Otologie Rhinologie | Year: 2011

Introduction: The development of laryngeal preservation protocols has considerably modified the indications for total (pharyngo-)laryngectomy (TPL). The objectives of our study are to analyze the current indications for TPL and to evaluate the oncologic and functional outcomes after TPL and their predictive factors. Methods: All patients who underwent TPL for squamous cell carcinoma of the larynx or hypopharynx, at our institution, between 2000 and 2009, were included in this retrospective study. Predictive factors of oncologic and functional outcomes were assessed in univariate and multivariate analyzes. Results: A total of 130 patients were enrolled in our study including 119 men and 11 women, with a mean age of 65.9 years. TPL was realized for salvage in 65 patients. Extralaryngeal tumor extension (n= 42) was the main indication for TPL in the 65 remaining patients. Overall survival was 49 and 41% at 3 and 5 years respectively. In multivariate analysis, primary tumor site (hypopharynx in comparison to larynx; p= 0.04) has a significant pejorative impact on overall survival. Oral alimentation (no enteral nutrition) was recovered successfully by 94% of the patients. In multivariate analysis, primary tumor site (hypopharynx) has a significant pejorative impact on functional results (deglutition: p< 0.0001; phonation: p= 0.03). Conclusion: Primary tumor site is one of the main predictive factor of oncologic and functional outcomes after TPL. Source

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