Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal.

BRCA1 and BRCA2 are the most incriminated genes in inherited breast/ovarian cancers. Several pathogenic variants of these genes conferring genetic predisposition have been described in different populations but rarely in sub-Saharan Africa. The objectives of this study were to identify pathogenic variants of the BRCA genes involved in hereditary breast cancer in Senegal and to search for a founder effect. We recruited after free informed consent, 27 unrelated index cases diagnosed with breast cancer and each having a family history. Mutation screening of the genes identified a duplication of ten nucleotides c.815_824dupAGCCATGTGG, (p.Thr276Alafs) (NM_007294.3) located in exon 11 of BRCA1 gene, in 15 index cases (allelic frequency 27.7%). The pathogenic variant has been previously reported in African Americans as a founder mutation of West African origin. Haplotypes analysis of seven microsatellites surrounding the BRCA1 gene highlights a shared haplotype encompassing ~400 kb between D17S855 and D17S1325. This haplotype was not detected in none of 15 healthy controls. Estimation of the age of the pathogenic variant suggested that it occurred ~1400 years ago. Our study identified a founder pathogenic variant of BRCA1 predisposing to breast cancer and enabled the establishment of an affordable genetic test as a mean of prevention for Senegalese women at risk.

Endométriome ombilical: à propos d'un cas et revue de la littérature: Umbilical endometrioma: a case report and literature review.

Endometriosis is defined as the implantation of endometrial tissue outside of the uterine cavity. It affects approximately 10% of women of childbearing age. Umbilical endometriosis is rare and its pathophysiology is poorly known. We report the case of a 42-year old nulliparous female patient with a 5-year history of myomectomy, presenting with cyclic pain associated with umbilical mass. The diagnosis of umbilical endometrioma was made and confirmed by the histological examination of the surgical specimen. Treatment was based on wide excision of the mass associated with pelvis exploration and umbilical plasty.

[Benign tumors of the breast in the department of senology at the University Hospital Aristide Le Dantec, Dakar (Senegal)]. / Tumeurs bénignes du sein à l'unité de sénologie du Centre Hospitalier Universitaire Aristide Le Dantec de Dakar (Sénégal).

INTRODUCTION: This study aimed to identify the epidemiological, clinical and therapeutic features of benign tumors of the breast treated in the department of senology at the university hospital Aristide Le Dantec, Dakar. METHODS: We conducted a cross-sectional, descriptive and analytical study of 220 patients treated in the Department of Senology at the University Hospital Aristide Le Dantec, Dakar over the period from 1 January 2008 to 31 December 2013. RESULTS: 220 patients out of 984 consultants had benign tumor of the breast (22.5%). Benign tumors of the breast accounted for 58.2% of tumor pathologies. The average age was 24 years. The age group 11-30 years was the most represented (70%). The quasi-totality of patients were women of childbearing age (95%), 58.6% were nulliparous women. The main reason for consultation was a breast mass in 94.5% of cases. The left side was most often affected (49.5%), especially the upper outer quadrant (41.6%). 145 patients (65.9% of cases) underwent ultrasound. Cytologic examination showed conjunctival epithelial hyperplasia in almost all cases (96.1%). 44 women underwent histologic examination, which confirmed the histologic nature of the lesions. Fibroadenoma and fibrocystic changes were the most retained diagnoses, accounting for 86.3% and 5.9% respectively. 28 patients (12.7%) underwent lumpectomy, all tumor types were taken together. The majority of patients had follow-up appointments within 3 months, with favorable outcome. CONCLUSION: Benign tumors are very frequent in senology consultations. The recommended diagnostic approach combines the clinico-radio-cytological triad and, in case of doubt or discrepancy, biopsy or surgical resection are essential. Surgery is not always the treatment of choice. This is based on the nature of the tumor.

Fatal Cases of Gestational Trophoblastic Neoplasia in a National Trophoblastic Disease Reference Center in Dakar Senegal.

OBJECTIVES: The objectives of this study were to analyze deaths after gestational trophoblastic neoplasia and to determine the factors of treatment failure. METHODS: This is a retrospective study in Aristide Le Dantec teaching Hospital in Dakar, Senegal, between 1 January 2006 and 31 December 2014. We took into account socio-epidemiological characteristics of patients, initial diagnosis, time between uterine evacuation and admission, time to onset of gestational trophoblastic neoplasia (GTN), treatment received (deadlines, protocols), difficulties experienced in the diagnosis and the initiation of treatment and survival. RESULTS: In total, 1044 patients were admitted during the study period; 164 cases of GTN were diagnosed (15.7%); and 21 deaths occurred leading to a specific lethality of 12.8%. The average age was 30 years. Almost all patients (n = 18; 85.7%) had low income or no income. Eight out of 21 patients (38.1%) were seen in our department after GTN onset. The mean time to onset of GTN of all patients was 22.1 weeks. For 66.6%, histology was not available; the diagnosis of hydatidiform mole was made on the clinical history and sonographic features and GTN on human chorionic gonadotrophin (hCG) evolution and ultrasound findings. None of the patients had regular chemotherapy due to financial reasons. Patients who died within 3 months after diagnosis had metastatic tumors (7 of 21). All these women had resistance to treatment or progressed after three courses of chemotherapy. Ten of the 12 women with high-risk GTN were not treated with multi-agent chemotherapy (EMA-CO) for purely financial reasons. CONCLUSION AND GLOBAL HEALTH IMPLICATIONS: The high incidence and mortality require a profound reorganization of our health system and a high awareness of practitioners to refer to time or to declare all suspected cases of hydatidiform mole or gestational trophoblastic neoplasia.

Spontaneous Uterine Rupture of an Unscarred Uterus before Labour.

Uterine rupture is a public health problem in developing countries. When it is spontaneous, it occurs most often during labor in a context of scarred uterus. Uterine rupture during pregnancy is a rare situation. The diagnosis is not always obvious and morbidity and maternal and fetal mortality is still high. We report a case of spontaneous uterine rupture during pregnancy at 35 weeks of an unscarred uterus before labour. This is an exceptional case that we observe for the first time in our unit.