Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.

BACKGROUND: Triple negative breast cancer (TNBC) has been classified as a disease subgroup defined by the lack of expression of estrogen and progesterone receptors as well as the absence of the human epidermal growth factor receptor-2 (HER2) overexpression. Germline mutations in the BRCA1 gene have been associated with TNBC. Approximately 70% of breast cancers arising in BRCA1 mutation carriers and up to 23% of breast cancers in BRCA2 carriers display a triple negative phenotype. However, the contribution and the frequency of BRCA1 mutations in individuals with TNBC, not specifically selected for age at diagnosis or enriched family history of breast/ovarian cancer, have not been investigated in the Tunisian population and are to be established. The aim of the present study was to assess the contribution and the prevalence of recurrent BRCA1 germline mutation (5382inC) in Tunisian women with TNBC unselected for family history or age at onset. METHODS: For BRCA1 5382inC mutation detection, the exon 20 coding region and exon-intron boundaries of BRCA1 was analyzed using direct DNA sequencing. A total of 33 DNA samples from Tunisian women diagnosed with TNBC and unselected for family history or age at onset were analyzed. RESULTS: The 5382inC mutation was identified in 2 out of 33 women with TNBC with an overall prevalence of 6% (2/33). The detection rate of the 5382inC mutation among TNBC women with family history of breast cancer was 25% (2/8). The two 5382inC mutation carriers were postmenopausal and diagnosed at the age of 50 and 57. When stratified by age, the frequency of BRCA1 mutation in patients diagnosed at age ≥ 50 years was 8.7% (2/23). CONCLUSIONS: Our results confirm a noticeable contribution of BRCA1 5382inC mutation in TNBC development in Tunisia and further indicate that screening for 5382insC mutation in the BRCA1 gene is of interest in genetic testing in our population. Additionally, our data highlight that receptor triple negativity could be an effective selection criterion for BRCA1 genetic test in our population and should therefore be considered in genetic testing guidelines in Tunisia.

Metal-Organic Frameworks as Efficient Oral Detoxifying Agents.

Poisoning and accidental oral intoxication are major health problems worldwide. Considering the insufficient efficacy of the currently available detoxification treatments, a pioneering oral detoxifying adsorbent agent based on a single biocompatible metal-organic framework (MOF) is here proposed for the efficient decontamination of drugs commonly implicated in accidental or voluntary poisoning. Furthermore, the in vivo toxicity and biodistribution of a MOF via oral administration have been investigated for the first time. Orally administered upon a salicylate overdose, this MOF is able to reduce the salicylate gastrointestinal absorption and toxicity more than 40-fold (avoiding histological damage) while exhibiting exceptional gastrointestinal stability (<9% degradation), poor intestinal permeation, and safety.

Cervical Injuries in Drowning Cases: A Case Report and a Review of Literature.

Discovery of bruises in the muscles of the neck and a fracture of the hyoid bone in a body recovered from water makes the diagnosis and the determination of the manner of death difficult.The aims of this work are to report a case of a drowned body with cervical injuries and to highlight the importance of interpreting these findings accurately.A 39-year-old woman was found dead face down in a 6-m deep well with a 3-m water level. She was mentally disturbed and had a history of suicide attempts. In fact, she had previously attempted to jump into that well in an attempt to put an end to her life. The autopsy revealed bruises in the muscles of the neck and a bruise associated with a fracture of the left horn of the hyoid bone.The mechanism for the origin of drowning-related neck injuries will be discussed.

Liver Subcapsular Hematoma: A Rare Cause of Sudden Unexpected Death.

The spontaneous subcapsular hematoma of the liver is very rare. There are only a few reported cases in the literature.Most reported cases of liver hematoma often occur during pregnancy as part of the hemolysis, elevated liver enzymes, and low platelet count syndrome. The other causes may be due to amylosis, rupture of hepatocellular carcinoma, adenoma, focal nodular hyperplasia, hemorrhagic cyst, or hemopathy. Idiopathic spontaneous subscapular hematoma is a rare and often fatal condition.We report a case of a 43-year-old woman having Steinert disease who died because of a fatal spontaneous liver hemorrhage occurring without any traumatism. We did not find any apparent cause that could explain this hemorrhage even after a histological study of the liver.

Cardiac rupture during acute myocardial infarction : Autopsy study (2004-2020).

INTRODUCTION: Cardiac rupture is a rare but critical complication of myocardial infarction with an incidence of 1 to 3% of cases. We aimed in this autopsy study to analyze the anatomical, epidemiological, cardiac, and coronary profiles of cardiac rupture in the Monastir region. METHODS: We conducted a descriptive study with retrospective data collection of all cases of myocardial infarction complicated by a cardiac rupture over seventeen years (2004-2020). RESULTS: Thirty-one cases were included in this study. The mean age of the cases was 67 years with a male predominance. Sixteen cases (57%) had cardiovascular risk factors. The most common symptomatology reported before death was acute chest pain in 57% of cases. Fourteen cases (45%) corresponded to the definition of sudden cardiac death. At autopsy, the heart had a mean weight of 452.78 grams. A large hemopericardium was associated in 90% of cases. Myocardial rupture involved the posterior wall of the left ventricle in 50% of cases. The myocardial rupture occurred at a site of acute myocardial infarction in 86% of cases and on a myocardial scar in 14% of cases. The coronary study showed double or triple vessel atherosclerotic coronary artery disease in 57% of cases with fresh thrombi at the infarct-related coronary in 11% of cases. CONCLUSIONS: Our analysis found that cardiac rupture mostly involved elderly subjects with underlying cardiovascular risk factors. Our findings sustain that age is a determining prognostic factor after acute coronary syndrome with the need for further education and awareness-raising efforts to speed up access to care for these patients.

Ossifying fibromyxoid tumor of soft tissue: A case report with review of literature.

INTRODUCTION AND IMPORTANCE: The ossifying fibromyxoid tumor of soft tissue is a rare tumor of intermediate differentiation and uncertain lineage that occurs in adults mostly in the extremities and the trunk. PRESENTATION OF CASE: we present a case of 57 year-old man presenting with a right scapular mass. It was a subcutaneous and painless mass that was largely excised. The diagnosis of ossifying fibromyxoid tumor of the right shoulder was made. The follow up of 1 year was without recurrence and metastasis. CLINICAL DISCUSSION: The ossifying fibromyxoid tumor of soft tissue is exceptional, microscopic diagnosis and management is challenging, considering the scarcity of the tumor. CONCLUSION: More cases and retrospective studies are needed to understand the pathogenesis and to determine optimal treatment regimens.

Fetal Rhabdomyomatous Nephroblastoma in a 31-Year-Old Woman: A Case Report.

Fetal rhabdomyomatous nephroblastoma (FRN) is a rare variant of Wilms tumor with distinct morphologic features and biologic behavior compared to conventional nephroblastoma. It mainly occurs in patients under 4 years. In adults, extremely rare cases of nephroblastoma were reported. Among these cases, none has been interested a FRN. We report an exceptional case of a 31-year-old woman diagnosed with FRN discovered incidentally, to illustrate clinical and histopathological characteristics of this entity.

Imaging features of primary pulmonary liposarcoma.

Primary liposarcoma of the lung is extremely rare. We report a 28-year-old pregnant woman who complained of dyspnoea during the third trimester. Chest radiography, thoracic ultrasound, CT and MRI showed a huge heterogeneous tumour involving all the left lung and the mediastinum. The tumour was composed of soft tissue, and fatty and cystic components with calcifications. Diagnosis was made on core biopsy under CT guidance. Surgical excision was performed but unfortunately the patient died during the operation.