Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on negative Tunisian cancer families.

Recent advances in sequencing technologies have significantly increased our capability to acquire large amounts of genetic data. However, the clinical relevance of the generated data continues to be challenging particularly with the identification of Variants of Uncertain Significance (VUSs) whose pathogenicity remains unclear. In the current report, we aim to evaluate the clinical relevance and the pathogenicity of VUSs in DNA repair genes among Tunisian breast cancer families.

Identification of Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.

and are the most commonly mutated breast cancer susceptibility genes that convey a high risk of breast and ovarian cancer. Most or mutation carriers have inherited a single heterozygous mutation. In recent years, very rare cases with biallelic or trans double heterozygous mutations on and or have been identified and seem to be associated with distinctive phenotypes.

Gemcitabine-Related Atrial Fibrillation: A Case Report and Review of the Literature.

Introduction: Gemcitabine is a commonly used antimetabolite that has been effective in a broad spec- trum of tumors so far. The main grade three and four known toxicity of this drug is myelosuppres- sion. Cardiac adverse events have been rarely reported and gemcitabine-induced Atrial-Fibrillation (AF) has been described in only five previous cases so far.

Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.

Hereditary breast cancer accounts for 5-10% of all breast cancer cases. So far, known genetic risk factors account for only 50% of the breast cancer genetic component and almost a quarter of hereditary cases are carriers of pathogenic mutations in BRCA1/2 genes. Hence, the genetic basis for a significant fraction of familial cases remains unsolved.

An unusual and severe case of paclitaxel-induced hand-foot syndrome.

Although paclitaxel is known to cause mild skin toxicity, it may induce severe HFS requiring drug withdrawal. Patients with high disease burden might receive prolonged paclitaxel chemotherapy. Hence, a grade 2 toxicity would better indicate withdrawal of paclitaxel instead of suspension and rechallenge, to prevent such severe HFS requiring long-time recovery.

Toxicity profile of taxanes in Tunisian cancer patients: A retrospective study of 90 cases.

Introduction: Taxanes are widely used in medical oncology. The aim of our study was to report and analyze the toxicity features of these drugs in Tunisian patients and to determine their impact on treatment response.

Methods: Our retrospective study concerned 90 patients treated by taxanes in a medical oncology unit, from January 2014 to January 2017.

The Predictive Value of 2D Myocardial Strain for Epirubicin-Induced Cardiotoxicity.

Introduction: Although epirubicin has significantly improved outcome in breast cancer (BC) patients, it is responsible for myocardial dysfunction that affects patients' quality of life. The use of 2D global longitudinal strain (GLS) has been reported to detect early myocardial dysfunction. The aim of this study was to evaluate how GLS changes can predict cardiotoxicity.

Identification of Novel and Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.

Background: Deleterious mutations on genes are known to confer high risk of developing breast and ovarian cancers. The identification of these mutations not only helped in selecting high risk individuals that need appropriate prevention approaches but also led to the development of the PARP-inhibitors targeted therapy. This study aims to assess the prevalence of the most frequent mutation in Tunisia, c.

Clival chordoma in a young male patient: a case report.

Chordoma is a rare malignant tumor of the spine. We report the case of a 26-year-old man who presented with facial paralysis and upper limbs paresthesia. Cerebral CT-scan and cerebro-spinal MRI revealed a 58mm locally advanced middle clival mass with deviation of median cerebral structures.

Urothelial bladder carcinoma in childhood: a case report.

We report an exceptional case of transitional cell carcinoma of the bladder in a 14-years old boy without personal nor family history who consulted for a total hematuria. Work-up showed a bladder lesion sized 5cm with histology of urothelial cancer. Treatment consisted of a transurethral surgery with carcinologic complete resection.

Oxaliplatin-induced peripheral neuropathy risk factors and management in Tunisian population.

The most important limits of oxaliplatin treatment is its peripheral neurotoxicity. The aim of our study was to evaluate the oxaliplatin-induced peripheral neuropathy, its impact on treatment and its management. One hundred chemo-naive patients treated with oxaliplatin-based regimen in the medical oncology department of the military hospital of Tunis between 2012 and 2017 were recruited retrospectively.

Transformation of a prostatic adenocarcinoma into squamous cell carcinoma after luteinizing hormone-releasing hormone (LHRH) agonist and radiotherapy treatment.

Squamous cell carcinoma of the prostate is rare and represents 0.5% to 1% of prostatic carcinomas. Transformation of prostatic adenocarcinoma into squamous cell carcinoma after LH-RH agonist intake has been reported in only 8 cases in the literature.

Ki-67: role in diagnosis, prognosis and follow-up after treatment of breast cancers.

Aim: To evaluate the literature data about diagnostic value, prognosis value and interest in follow-up of Ki-67 antibody after treatment for breast cancer.

Methods: We performed a literature search in pubmed using the keywords : Ki-67, anti-Ki-67, breast cancer, prognosis, proliferation, chemotherapy, hormone therapy.

Results: Ki-67 is routinely used as a static marker of proliferative activity and in follow-up-monitoring before and after treatment by chemotherapy and more recently hormonotherapy.

Glioblastoma in Tunisia: A retrospective study about 41 cases.

Background: Glioblastoma (GB) is the most common and lethal primary brain tumor in adults representing 25% of primary brain tumors in adults. The objective of our study was to report the epidemiologic, clinical and therapeutic features of GB in Tunisia.

Methods: Our retrospective study included 41 patients with histologically confirmed GB treated between 2006 and 2012 at the medical oncology departments of Abderrahmane Mami hospital in Ariana and the military hospital in Tunis.