Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso.

BACKGROUND: Breast cancer (BC) is the most commonly diagnosed cancer and the second leading cause of cancer-related deaths among women in Africa after cervical cancer. Even if the epidemiological data are now aligned with those relating to industrialized countries, the knowledge concerning breast cancer in Africa, particularly in Western Africa, still lack clinical data, medical treatments, and the evaluation of genetic and non-genetic factors implicated in the etiology of the disease. The early onset and the aggressiveness of diagnosed breast cancers in patients of African ancestry strongly suggest that the genetic risk factor may be a key component, but so far, very few studies on the impact of germ line mutations in breast cancer in Africa have been conducted, with negative consequences on prevention, awareness and patient management. Through Next Generation sequencing (NGS), we analyzed all of the coding regions and the exon-intron junctions of BRCA1 and BRCA2 genes-the two most important genes in hereditary breast cancer-in fifty-one women from Burkina Faso with early onset of breast cancer with or without a family history. RESULTS: We identified six different pathogenic mutations (three in BRCA1, three in BRCA2), two of which were recurrent in eight unrelated women. Furthermore, we identified, in four other patients, two variants of uncertain clinical significance (VUS) and two variants never previously described in literature, although one of them is present in the dbSNP database. CONCLUSIONS: This is the first study in which the entire coding sequence of BRCA genes has been analyzed through Next Generation Sequencing in Burkinabe young women with breast cancer. Our data support the importance of genetic risk factors in the etiology of breast cancer in this population and suggest the necessity to improve the genetic cancer risk assessment. Furthermore, the identification of the most frequent mutations of BRCA1 and BRCA2 in the population of Burkina Faso will allow the development of an inexpensive genetic test for the identification of subjects at high genetic cancer risk, which could be used to design personalized therapeutic protocols.

Male breast cancer: diagnosis stages, treatment and survival in a country with limited resources (Burkina Faso).

BACKGROUND: Male breast cancer is a rare and less known disease. Therapeutic modalities affect survival. In Burkina Faso, male breast cancers are diagnosed in everyday practice, but the prognosis at short-, middle-, and long-term remains unknown. The objective of this study is to study the diagnosis stages, therapeutic modalities, and 5-year survival in male breast cancer at the General Surgery Unit of Yalgado Ouedraogo University Hospital from 1990 to 2009. METHODS: A cohort longitudinal study concerning cases of breast cancer diagnosed in man. Survival was assessed using the Kaplan-Meier method and survival curves were compared through the LogRank test. RESULTS: Fifty-one cases of male breast cancer were followed-up, i.e., 2.6% of all breast cancers. Stages III and IV represented 88% of cases. Eleven patients (21.6%) were at metastatic stage. Patients were operated in 60.8% of cases. The surgery included axillary dissection in 25 (80.6%) out of 31 cases. Lumpectomy was performed on 6.5% of patients (2 cases). Fifteen (29.4%) and 11 (21.6%) patients underwent chemotherapy and hormonal therapy, respectively. The FAC protocol was mostly used. Radiation therapy was possible in two cases. The median deadline for follow-up was 14.8 months. A local recurrence was noticed in 3.2% of cases. The overall 5-year survival rate was 49.9%. The median survival was over 5 years for stages I and II. It was 54 down to 36 months for stages III and IV. CONCLUSION: Diagnosis is late. The lack of immunohistochemistry makes it difficult to define the proportion of their hormonal dependence. Surgery is the basic treatment. Five-year survival is slow and the median survival depends on the diagnosis stage. It can be improved through awareness-raising campaigns and the conduct of individual screening.

A case report of management of gastric perforation in situs inversus totalis in a 45-year-old adult. A case report.

INTRODUCTION: Situs inversus is a rare congenital malformation often discovered during childhood. It can cause diagnosis errors in adulthood. Its association with gastric perforation is an extremely rare event in the literature. Its diagnosis is made by an adequate morphological assessment. PRESENTATION OF CASE: A 45-years-old man, was admitted to the surgical emergency department for generalized acute abdominal pain initially sitting in the right hypochondrium, accompanied by bilious vomiting and a stop in intestinal transit, progressing for 48 h. He had no known surgical history. The clinical examination noted an altered general state (WHO III) and a peritoneal syndrome. A diagnosis of generalized acute peritonitis has been made. An x-ray of the abdomen without preparation revealed a bilateral pneumoperitoneum with a cardiac point on the right. The thoraco-abdomino-pelvic CT scan confirmed the diagnosis. After resuscitation, the patient underwent a laparotomy with gastroraphy and appendectomy. The postoperative follow-ups were without an uneventful, over a 15-month follow-up. DISCUSSION: Situs inversus totalis is an uncomon event. Its exact etiology is still unknown. Some authors incriminate an autosomal recessive gene. In our context, its diagnosis is a surprise. Its revelation by gastric perforation is an extremely rare event. Surgical treatment must be performed early. Prognosis is generally better. CONCLUSION: In developing countries the diagnosis of situs inversus is a surprise during a pathology which led the patient to a medical consultation. CT-scan is one of the key paraclinic exams for its diagnosis.

A case report of Villar's nodule in a woman without surgical history.

INTRODUCTION: Villar's nodule is an umbilical endometriosis without anterior or ongoing pelvic endometriosis. The primitive location of this nodule at the umbilical level is rare. Its etiopathogenesis remains unclear. PRESENTATION OF CASE: We report a case of umbilical endometriosis with unusual clinical expression in a woman in the reproductive years with no surgical history and no known history of endometriosis. Endometriosis manifested as progressive transformation of the normal umbilicus into several small nodules, with bleeding coinciding with the menstrual cycle. The diagnosis was confirmed by histology and surgical treatment consisted of omphalectomy. DISCUSSION: Umbilical endometriosis is a rare disease that occurs naturally in patients with pelvic endometriosis. Etiopathogenesis of the disease is still unclear. In our patient, the appearance of the nodule was impressively, by a gradual transformation of the normal aspect of the umbilicus, into several small, slightly pigmented, firm, painful and concomitantly bleeding nodules during periods of menstruation. In the literature, this multinodular or budding form would be of exceptional observation. CONCLUSION: The characteristics of the umbilical tumor, associated with the cyclical nature of tumor bleeding in a patient without previous history of endometriosis, strongly suggest the diagnosis of Villar's nodule, but the confirmation is still histological. The treatment is always surgical and recurrence is very rare.

BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso.

The worldwide variation of BRCA mutations is well known. The c.68_69delAG, c.181T>G, c.798_799delTT mutations in BRCA1 were observed in Moroccan, Algerian and Tunisian Breast Cancer families and were described founder mutation in Northern Africa. The 943ins10 is also recognized a founder mutation in West Africa. To our knowledge no study has been published on BRCA1/2 germline mutations and hereditary breast cancer (HBC) in population of Burkina Faso. The aim of the present study (first in Burkina Faso) was to screen for these four mutations in 15 unrelated patients with HBC. Mutation analysis was performed by Sanger sequencing of coding exon2, Exon5 and exon11A sequences of the BRCA1 gene. Blood specimens of 15 patients from Burkina Faso, with HBC were collected at the University Hospital Yalgado OUEDRAOGO (CHU-YO) of Ouagadougou in Burkina Faso. c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations were not detected in any of the 15 women diagnosed with family breast cancer history. Genetic analysis in this study, we show that targeting relevant exons in BRCA1 genes did not allow detection of mutations in the population of Burkina Faso. Therefore, such an approach may be of interest to perfom a complete sequencing of BRCA1 and BRCA2 genes in families at a high risk of developing breast cancer in Burkina Faso.

Breast cancer: descriptive profile of 80 women attending breast cancer care in the Department of General and Digestive Surgery of CHU-YO.

INTRODUCTION: Breast cancer is a common cause of death among women in Burkina Faso. The aim of this study was to determine a descriptive profile of 80 women and establish a description of risk factors associated with breast cancer in these women. METHODS: This cross-sectional study recruited women with breast cancer in Ouagadougou. Teaching Hospital Yalgado Ouedraogo in Burkina Faso from January 2015 to February 2016. We have collected data on socio-demographic characteristics, reproductive status, clinical information, treatment and molecular characteristics. RESULTS: The average age of the study population was 48.2±12.4 years. Family history of breast cancer was reported in 18.75% of the studied participants against 16.25% family history for other types of cancer. Patients from urban areas represented 87.5% of our studied population with 58.75% of household, multiparous (55.0%), no aborts status (56.2%), post-menopausal women (53.75%), no oral contraception (63.75%), regular menstrual cycle (71.25%) and the prevalence of obesity was 12.5%. The clinical and molecular characteristics showed that left-sided breast cancer accounted for 51.25 %, high grade (II and III) represented 93.75 % of cases and the majority of tumors were infiltrating ductal carcinomas (93.75%) with stages III and IV accounted for 50.0%. CONCLUSION: This study described the distribution of risks factors in a population of breast cancer women. Although more research are needed to support these findings, a clear understanding of risk factors associated with breast cancer would contribute to significantly reduce breast cancer incidence and mortality in Burkina Faso.

Multiparity and Breast Cancer Risk Factor among Women in Burkina Faso

The relative lack of information on breast cancer etiology in Burkina Faso led us to undertake the present work to highlight risk factors. This prospective study was conducted using a questionnaire between January 2015 and February 2016 on women admitted to Yalgado OUEDRAOGO hospital, for consultation or supervision. The characteristics of multiparous breast cancer patients (n = 44) were compared with their non-multiparous counterparts (n = 36). The study found that increased risk of breast cancer among non-multiparous cases was related to body mass index (BMI) (p <0.001), age at menopause (p <0.004) and use of oral contraception (p <0.021) while abortion (p <0.002) was a risk factor among multiparous cases. These results suggest that even if multiparity is associated with a decreased risk in some women, avoidance of abortion during reproductive life should be recommended. The results provide preliminary information, which now need to be supplemented by survey of a larger sample in the national territory.

[Tourniquets, a drama in the infant: about 3 cases]. / Les garrots de prélèvement, un drame chez le nourrisson: à propos de 3 cas.

The time limit for the removal of a tourniquet is short; any delay in tourniquet deflation, especially if it exceeds the 3 hour limit, exposes to amputation hazards. Our objective was to report three cases of ischemic limb gangrene, caused by having forgotten to take a tourniquet off after a blood sampling, to inform healthcare professionals about the risk associated with that negligence. We encountered 3 cases of infants (2 three-month-old infants and 1 five-month-old infant), hospitalized in intensive care unit of Yalgado Ouédraogo University Hospital for upper-left limb swelling. Their medical history shows that there was a delay in tourniquet deflation after a blood sampling of 24 hours in two cases and of 48 hours in one case. Physical examination revealed a diffuse edema associated with upper limb gangrene spread to the mid-third of the upper arm, abolition of the ulnar and radial pulse as well as loss of sensation in the hand in 2 cases. In one case clinical signs were attenuated. The diagnosis of ischemic limb gangrene was confirmed in all cases. Laboratory examinations were normal. Two cases needed urgent trans-humeral amputation and one case needed debridement plus amputation of four fingers. The evolution was simple in all cases. Iatrogenic dry gangrene caused by a delay in tourniquet removal should never happen at hospitals. This can be guaranteed only by tightening up health management and by performing regular and accurate patient monitoring.

Cancer of the vulva in Burkina Faso: a hospital-based case series.

BACKGROUND: Vulvar cancer is a rare gynaecological cancer. In Burkina Faso, the diagnosis of vulvar cancers is delayed and the prognosis is poor. However, no specific study on vulvar cancers has been conducted at the moment. This work aimed to study the characteristics of these cancers. METHODS: This is a prospective study on histologically confirmed primary cancers of the vulva diagnosed between 1st January 2013 and 30th June 2015. The demographic and clinical aspects were studied at the Yalgado Ouedraogo University Hospital of Ouagadougou (CHU-YO). RESULTS: We noticed 21 cases of vulvar cancers within 30 months, ranking it as the 4th most common gynaecological cancer. The average age of the patients was 55 years (standard deviation +/- 6.3) and the median age was 57 years. Scars resulting from female circumcision, menopause (n = 20) and HIV infection were noticed in 19 cases and 6 cases respectively. The average time from first symptoms to first consultation was 29 months. Pain and ulceration were the main reasons for consultation. The clinical picture was chiefly an ulcero-granulating tumour. There was squamous cell carcinoma in 20 cases and basal carcinoma in 1 case. Fifteen patients were at stage III or IV, where of three patients had metastatic disease. We noticed vitiligo in 9 vulvar cancer cases. CONCLUSION: The cancer of the vulva is rare. Women are of menopausal age, are mostly circumcised and HIV-infection is common. A majority of patients sought consultation at advanced stage of disease, and diagnosis was belatedly made. Pain and ulceration were the main reasons for consultation. The sensitization of the population, education for self- examination would allow earlier diagnosis.

[Epidemiological features of tumors of the skin and mucosal membranes in the department of dermatology at the Yalgado Ouedraogo National Hospital, Ouagadougou, Burkina Faso]. / Tumeur cutanéo-muqueuses: aspects épidémiologiques dans le service de dermatologie du centre hospitalier national Yalgado Ouedraogo de Ouagadougou, Burkina Faso.

We conducted a retrospective study of the files of all patients seen from 1 January 1992 through 31 December 1996 with tumors of the skin and mucosal membranes at the Yalgado Ouédraogo National Hospital in order to determine the epidemiologic features of this disease. The records revealed 988 patients presented 1024 tumors, which could be classified into 33 categories. Most of the patients (60.6%) were in the age bracket of 20 to 39 years. Nearly all cases (988 or 96.5%) were benign skin tumors, mainly of infectious origin, especially viral (51.7%). We observed a substantial number of sexually transmissible infections, such as condylomata. We also found 36 cases (3.5%) of malignant tumors, including 29 cases of Kaposi sarcoma, five skin carcinoma (13.8%), three spinocellular and two basocellular; we also noted two borderline malignant tumors: a dermatofibrosar-coma protuberans and a nodular hidradenoma. The elevated prevalence of condyloma (151 cases) may explain the predominance of the 20-39 year age group, which is the most sexually active. Our series also confirmed the relative rarity (3.5%) of cutaneous cancers among African blacks. The predominance of Kaposi sarcoma may be explained by the high prevalence of HIV infection in our country.