Retroperitoneal GIST: An exceptional location of a rare tumour. A case report from Ouagadougou and review of the literature.

INTRODUCTION: GIST can occur in all segments of the gastrointestinal tract with a predilection for the stomach. Retroperitoneal localization remains exceptional. We report a case to describe our diagnostic and therapeutic approach. CASE PRESENTATION: A 55-year-old patient was admitted with borborygms and a sensation of lumbar swelling for 6 months. He was diabetic and hypertensive. The clinical examination noted a right lumbar mass with perception of bowel sound anterior to the mass, with minimal discomfort and mobility. Ultrasound revealed a hypervascularised, encapsulated, well-limited retroperitoneal tissue mass in contact with the right psoas muscle. Abdomino-pelvic CT scan showed a large, hypervascularized, encapsulated, calcified tissue mass measuring 147 × 106 mm in close contact with the outer edge of the right psoas muscle, suspected of being malignant. MRI noted a suspicious process developed at the expense of the right psoas muscle in its lumbar and iliac portion suggestive of a psoas rhabdomyosarcoma. The patient underwent laparotomy with a retroperitoneal approach by lumbar incision. Histology and immunohistochemistry revealed a GIST expressing CD117. The patient was put on imatinib for 6 months. He is complaint-free after 4 months. DISCUSSION: Despite the rarity of retroperitoneal GIST, it should be considered in the presence of any retroperitoneal mass. This will allow for early management. CONCLUSION: Retroperitoneum is an exceptional location for GIST. Surgery remains the mainstay of curative treatment. Adjuvant imatinib reduces the risk of recurrence. The prognosis is usually good.

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.

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.