La gigantomastie juvénile: à propos d’un cas à l’institut Joliotcurie de Dakar et revue de la literature

La gigantomastie juvénile ou hypertrophie mammaire virginale est une augmentation pathologique supérieure à 1500 cm3 du volume des deux seins chez l'adolescente. Elle entraine des répercussions psychologiques et physiques importantes. Les traitements médicaux sont décevants laissant la place à la chirurgie qui peut compromettre l'avenir fonctionnel des glandes mammaires. Nous rapportons le cas d'une jeune fille porteuse d'une gigantomastie juvénile. Il s'agissait d'une jeune fille de 15 ans porteuse d'une gigantomastie invalidante dont la prise en charge, essentiellement chirurgicale par une mammoplastie de réduction a été effectuée à l'Institut Joliot Curie de Dakar. La gigantomastie juvénile est rare. Elle est invalidante chez une patiente en pleine croissance avec des répercussions psychologiques et physiques. Le traitement est médical et chirurgical. Les grossesses sont possibles et les récidives ne sont pas rares.Pan African Medical Journal 2015; 2

La gigantomastie gravidique à l’Institut du Cancer de Dakar: à propos de 2 cas

La gigantomastie gravidique est une augmentation exagérée et invalidante de la taille des seins survenant pendant la grossesse chez une patiente aux seins préalablement normaux. Sa physiopathologie est mal cernée. Elle pose localement des problèmes trophiques et rend difficile la grossesse. Le traitement est médical anti hormonal et chirurgical sur la base d'une réduction mammaire. Il est difficile et peut compromettre l'avenir esthétique et fonctionnel de la glande mammaire. Nous rapportons 2 cas de gigantomasties gravidiques suivies et traitées à l'Institut Joliot Curie de Dakar.Pan African Medical Journal 2015; 2

Genetic contribution of breast cancer genes in women of black African origin

Breast cancer (BC) is an increasing public health issue worldwide. BC incidence and mortality rates are rising in transitioning countries in Africa, with the most rapid increase occurring in Sub-Saharan Africa (SSA). Female BC represents 25.8% of all cancer diagnosis in SSA. Early age at onset, high grade and triple negative tumors are hallmarks of BC in this region, associated with germline pathogenic variants in susceptibility genes. While several genes have been associated with genetic predisposition (BRCA1, BRCA2, PALB2, TP53, PTEN, CDH1, STK11, ATM, CHEK2, NBN, BARD1, BRIP1, RAD50, RAD51C, RAD51D, … ), most studies have reported contribution of BRCA1 and BRCA2 pathogenic variants. Genetic contribution of BRCA genes has been estimated at 27% in Caucasian women. Available data from population of African origin are scarce and have mainly focused on pathogenic variants of BRCA1 and BRCA2. Reports from main studies on large sample size highlighted that BRCA1 still the major gene associated with BC in SSA. In addition, BRCA2, PALB2, and P53, are also on the top major genes with high penetrance, associated with BC. Mutation spectrum of BC genes in black African women seems to be different from Caucasian with increasing number of founder mutations identified. We hypothesis that the genetic contribution of known BC genes may be different between women of black African origin compared to Caucasians. In this review we explore the genetic contribution of known breast cancer genes in women of African origin, and discuss perspectives for prevention and patients care strategies in the era of precision medicine

Cancers du sein bilatéraux synchrones et grossesse a l’institut Joliot Curie de Dakar (Sénégal)

Décrire notre stratégie diagnostique et thérapeutique dans les cancers du sein bilatéraux synchrones pendant la grossesse. L'âge gestationnel au moment du diagnostic du cancer était respectivement de 7; 21 et 25 semaines. Il s'agissait de stade IV et IIIA respectivement dans deux et un cas. Elles ont toutes bénéficié d'une chimiothérapie dans deux cas pendant la grossesse (6TEC et 3AC) et dans un cas après l'accouchement. Une mastectomie bilatérale a été réalisée dans un cas. Une patiente est décédée. Les autres étaient vivantes mais toutes métastatiques. Une hypotrophie foetale a été notée dans un cas. Le diagnostic du cancer est tardif dans cette association. La chirurgie est faisable et le type de chirurgie serait seulement fonction du stade du cancer. La chimiothérapie est possible avec moins de complications foetales aux deux derniers trimestres.Pan African Medical Journal 2016; 2

Uterine Fibroids in Senegal: Polymorphism of MED12 Gene and Correlation With Epidemiological Factors

International audienceBackground: Mediator complex subunit 12 (MED12) is a part of the mediator complex, which is believed to regulate transcription. Our recent study showed that MED12 is mutated at high frequency and with different mutation frequencies in Senegalese women with uterine fibroids. However, the status of mutations has not been correlated to the epidemiological factors that are implicated in uterine fibroids.Methods: This study aimed to analyze status of MED12 mutations in Senegalese population. MED12 was sequenced in tumoral tissues and blood samples of 54 Senegalese women with uterine fibroids. Clinical and pathological data were obtained from the patient’s records and other parameters were recorded. Mutation Surveyor software version 5.0.1, DnaSP version 5.10, MEGA version 7.0.26 and Arlequin version 3.5.1.3 were used to determine the level of mutations and genetics parameters. To estimate the genetic variation according to the epidemiological parameters, the index of genetic differentiation (Fst) and the genetic structure like analysis of molecular variance (AMOVA) were determined with Arlequin software version 3.5.1.3. The significance level (P-value) was 0.05.Results: Our results showed that MED12 is mutated at 88.89% (48/54) only in tumor tissues. The variants frequencies were not similar to those found in the Finnish populations. The Chi2 test indicates a statistically significant difference for the variants c.130G>C, c.130G>A, c.131G>A and for the Intronic Variant Site (p <0.05). This variable expression of the MED12 gene is further confirmed by the amino acid frequency between blood and tumor tissue with a statistically significant difference for alanine, glutamic acid, lysine, methionine, threonine, valine, tryptophan and tyrosine (p <0.05). In addition, the selection test indicates that codon 44 is under positive selection (p=0.0243) in cases of uterine fibroids. Genetic diversity according to risk factors such as parity and diet was observed in uterine fibroids in Senegal (p <0.05).Conclusion: Significant genetic diversity has been noted in uterine fibroids in Senegal. The codon 44 being under positive selection could be considered as a biomarker in uterine fibroids. Depending on the epidemiological parameters studied, parity and diet seem to be the risk factors most implicated in uterine fibroids in Senegal

Somatic Mitochondrial Mutations in Oral Cavity Cancers among Senegalese Patients

International audienceBackground: Somatic mutations affecting the mitochondrial DNA (mtDNA) have been frequently observed in human cancers and proposed as important oncological biomarkers. However, the exact mtDNA mutations that is responsible for the pathogenesis of cancer remains unclear. The aim of this study was to investigate somatic mutations in the MT-CYB and D-Loop regions of mitochondrial DNA (mtDNA) in oral cavity cancers from Senegalese patients.Methods: MT-CYB and the D-Loop of mtDNA derived from 45 oral cavity cancer tissues and 21 control blood samples were assessed by PCR and sequencing. The sequences of MT-CYB and the D-Loop from cancerous tissues were compared with control sequences, and sequence differences were recognized as somatic mutations.Results: Overall, 389 somatic mtDNA mutations were identified, most of which (79.43%) were located in the D-Loop region. The majority of base substitution mutations were G-to-A (63.93%) and T-to-C (16.39%) transitions. In the protein-coding MT-CYB gene, 29 missense mutations were observed. The pathogenic mutation load of MT-CYB was 3.11%. Pathogenic mutations were carried by 25% of patients. pArg76Pro (pArg282Pro in rCRS) was novel and was the most common pathogenic mutation observed.Conclusion: These results strongly indicate that mtDNA mutationsare a potential marker of oral cavity cancer

Screening and Early Diagnosis of Breast Cancer: Assessment of Knowledge and Practical Abilities of Final Year Nursing and Midwifery Students in Health Schools of Ouagadougou

The Objective was to assess the knowledge and practical abilities of final year nursing and midwifery students in health schools of Ouagadougou relating to screening and early diagnosis of breast cancer. This is a cross-sectional, prospective and descriptive observational study conducted from 1st November 2014 to 31st January 2015. A sample of 403 students was used for this study. Data were collected using an individual questionnaire and were typed on Epi data and then analyzed on SPSS software. Chi-square tests were used to compare the different proportions. The difference is considered to be significant if p-value < 0.05. Three hundred and ninety-nine students filled the questionnaire, i.e. a rate of non-respondents of 1%. All students were aware of the existence of breast cancer. The media (47.8%) was the main source of information. The level of knowledge of students was satisfactory with frequencies of 83.9% for risk factors; 91.6% for clinical signs; 83.4 % for screening methods and 88.1% for therapeutic terms of breast cancers. However, the focus should be put on the teaching of cancerology and the supervision of students during the internship, must be reinforced. These results attest that the level of students in the knowledge and practical abilities concerning screening and early diagnosis of breast cancer is satisfactory. Keywords: Cancer- breast- knowledge- abilities- practical- students- nurses- midwives- Ouagadougo

Quality of Life During Chemotherapy for Breast Cancer in a West African Population in Dakar, Senegal: A Prospective Study

International audiencePurpose: The prevalence of breast cancer is increasing in low- to middle-income countries such as Senegal. Our prospective study assessed the quality of life (QoL) of patients with breast cancer undergoing chemotherapy in Senegal.Patients and methods: Our study included women with breast cancer undergoing chemotherapy as initial treatment at the Center Aristide Le Dantec University Hospital in Dakar. Clinical, sociodemographic, and QoL data were collected and analyzed at three different times: baseline, 3 months, and 6 months after the start of systemic therapy. Health-related QoL was assessed using a Functional Assessment of Cancer Therapies-Breast (FACT-B) questionnaire after translation into the Wolof language. Linear mixed-effects models were performed to assess the changes in QoL scores.Results: Between July 2017 and February 2018, 120 patients were included in the study. Their median age was 45 years. Most patients (n = 105; 92%) had locally advanced disease (T3 to T4 stage) and lymph node involvement (n = 103; 88%), and half had metastatic disease. The FACT-B total scores significantly improved over time (β = 1.58; 95% CI, 0.50 to 2.67; P < .01). Nausea and vomiting were significantly associated with a decrease in FACT-B total scores (β = -16.89, 95% CI, -29.58 to -4.24, P = .012; and β = -13.44, 95% CI, -25.15 to -1.72, P = .028, respectively).Conclusion: Our study confirmed the feasibility of standardized QoL assessment in Senegalese patients with breast cancer. Our results indicated a potential improvement of QoL over the course of chemotherapy. Optimizing nausea and vomiting prevention may improve QoL