RESUME Introduction: Le cancer du sein (CS) est le cancer le plus fréquent chez la femme. Le risque de CS est influencé par de nombreux facteurs. Le traitement hormonal de la ménopause (THM) est l’un d’entre eux. Le risque de CS associé au THM varie probablement en fonction de la population traitée, du type de traitement utilisé, de la durée du traitement et du moment où il est instauré par rapport au début de la ménopause. Il existe des alternatives au THM pour soulager les symptômes de la ménopause. Quelques traitements ont montré une certaine efficacité mais présentent des effets secondaires. D’autres traitements doivent faire l’objet d’études plus approfondies. Objectifs: 1) Contribuer à l’analyse de l’influence du THM sur le CS. 2) Contribuer à l’amélioration de la qualité de vie des patientes ayant eu un CS. Résultats: 1) Nous avons analysé l’évolution de l’incidence du CS et des ventes de THM en Belgique et montré une corrélation entre ces deux paramètres. Nous avons réalisé une revue systématique des études analysant l’association entre l’incidence du CS et l’utilisation de THM. Toutes présentaient des limitations et leur hétérogénéité les rendait difficilement comparables. Nous avons analysé l’évolution des ventes de THM en Europe et montré une diminution importante au cours de la dernière décennie dans l’ensemble des pays étudiés. Nous avons analysé l’évolution de l’incidence du CS et de l’utilisation des THM dans différents pays européens et n’avons pas trouvé d’association entre ces deux paramètres. Nous avons réalisé une revue systématique des études évaluant l’influence du THM sur les caractéristiques du CS et montré que les CS développés sous THM n’étaient pas de meilleur pronostic. 2) Nous avons réalisé deux revues systématiques sur la sécurité d’emploi des THM et des traitements non hormonaux de la ménopause chez les femmes ayant eu un CS. Nous avons montré que le CS représentait une contre-indication au THM et que peu de données existaient concernant les traitements alternatifs. Nous avons mené deux études concernant l’utilisation de traitements de la ménopause chez les femmes ayant eu un CS et montré qu’une proportion importante des femmes ayant eu un CS présentait des symptômes de la ménopause mais que peu d’entre elles utilisaient un traitement. Certains de ces traitements pouvaient potentiellement réduire l’efficacité de leur traitement contre le CS. Conclusions: 1) L’influence exacte du THM sur l’incidence du CS reste difficile à déterminer. D’autres facteurs interviennent également. Nous avons montré l’importance du temps lorsqu’on observe l’évolution de deux paramètres. 2) Les traitements sûrs et efficaces des symptômes de la ménopause chez les femmes ayant eu un CS sont limités. La qualité de vie des patientes ménopausées, ayant souffert d’un CS, peut cependant être nettement améliorée. / ABSTRACT Introduction: Breast cancer (BC) is the most common cancer in women. BC risk is influenced by many factors. Menopausal hormone therapy (MHT) is one of them. BC risk associated with MHT may vary depending on the treated population, the type of MHT used, the treatment duration and the delay between the beginning of the treatment and the onset of the menopause. There are alternatives to MHT for the treatment of menopausal symptoms. Some of them have shown some efficacy but have side-effects. Others need further research. Objectives: (1) To contribute to the analysis of the influence of MHT on BC; (2) to contribute to the improvement of the quality of life of BC patients. Results: (1) We analysed changes in BC incidence and MHT sales in Belgium and showed a correlation between these two parameters. We made a systematic review of studies analysing the association between BC incidence and MHT use. All the studies had limitations and were heterogeneous, making them difficult to compare. We analysed changes in MHT sales in Europe and showed an important decrease during the last decade in all the studied countries. We analysed changes in BC incidence and MHT sales in several European countries and found no association between these two parameters. We made a systematic review of studies assessing the influence of MHT on BC characteristics and showed that cases of BC developed under MHT did not have a better prognosis. (2) We made two systematic reviews on the safety of MHT and non-hormonal treatments in BC patients. We showed that BC was a contra-indication to MHT and that few data on alternative treatments were available. We conducted two studies on the use of treatments to alleviate menopausal symptoms in BC patients and showed that an important proportion of these women suffered menopausal symptoms but that few of them were using a treatment. Some of these treatments could reduce the efficacy of their BC treatment. Conclusions: (1) The exact influence of MHT on BC incidence is difficult to evaluate. Other factors are also involved. We showed that long follow-ups are needed when analysing time trends. (2) Efficient and safe treatments for menopausal symptoms in BC patients are limited. However, the quality of life of BC patients may be improved. / Doctorat en Sciences biomédicales et pharmaceutiques (Médecine) / info:eu-repo/semantics/nonPublished

O progresso no diagnóstico precoce do câncer e terapias, bem como longevidade e o crescimento populacional, remete no aumento do número de indivíduos sobreviventes do câncer em todos os países, e com ele surge uma nova nomenclatura, a da sobrevivência ao câncer (SC). Este estudo teve como objetivo geral, analisar o conceito da SC na literatura de saúde e entre adoecidos adultos e/ou idosos diagnosticados com a doença. Para alcançar este propósito elaboramos mais quatro objetivos específicos que nos fez organizar a tese em três grandes etapas. A primeira etapa tem como objetivo analisar o conceito da SC apresentado na literatura de saúde, segundo o modelo evolucionário de análise conceitual de Rodgers. Este modelo está disposto em seis etapas, preconizando a análise dos estudos levantados pela análise temática indutiva e interpretados segundo o referencial teórico do conceito de cultura. Como resultado obtivemos os componentes do conceito, que nos auxilia na compreensão do mesmo, são eles: antecedente - ser diagnosticado com câncer; consequente - qualidade de vida dos sobreviventes do câncer (StC) e crescimento pessoal; atributos - processo de liminaridade e cuidado culturalmente congruente; termos substitutos - StC, sobrevivência em longo prazo e aquele que está vivendo após o diagnóstico do câncer, e por último os termos relacionados - sobrevida e reabilitação do câncer. Para a segunda etapa dessa pesquisa o propósito foi apreender os sentidos atribuídos a ser StC entre adoecidos, assim como, descrever os sentidos atribuídos ao conceito da SC entre adoecidos adultos e idosos por meio de sínteses narrativas. Desse modo, construímos um estudo qualitativo, com método narrativo e com referencial da antropologia médica. Realizamos entrevistas semi-estruturadas com 14 participantes diagnosticados com os diferentes tipos de câncer urológico de ambos os sexos, adultos e idosos, com no mínimo três meses pós-tratamento. Após transcrição dos dados, os mesmos foram analisados segundo a análise temática indutiva e duas sínteses narrativas foram elaboradas, a primeira delas é as dualidades da vida após o tratamento: da perda do autocontrole, da incerteza da recorrência da doença ao otimismo e esperança. Nessa síntese, discutimos acerca da experiência do sobrevivente com a doença, a perda de controle que a doença desencadeia e o consequente crescimento pessoal e aquisição do otimismo apesar das circunstâncias vividas. A segunda síntese é intitulada, o que eu sou? Sou um sobrevivente do câncer? Autorreflexão da identidade após o tratamento primário do câncer. Nela apreendemos a reflexão dos participantes sobre como se enxergam e veem a si mesmo e atribuem sentidos a ser ou estar doente, curado, vítima e principalmente StC. Com essas duas sínteses narrativas conseguimos descrever e nos aproximar dos sentidos atribuídos a SC. A terceira etapa foi desenvolvida em três tópicos, o primeiro consiste na comparação dos resultados da etapa um com a etapa dois, complementando com a importância da enfermagem oncológica no cuidado aos StC e uma reflexão sobre as políticas de saúde públicas atuais. Essa tese atualiza o conceito da SC e traz novas perspectivas sobre ele, contribuindo para a enfermagem oncológica / The progress in the early diagnosis of cancer and therapies, as well as the longevity and population growth remit to an increased number of cancer survivors around the world, giving rise to a new term, that of cancer survivorship (CS). The general objective in this study was to analyze the concept of CS in the health literature and among adult and/or elderly patients diagnosed with the disease. To achieve this objective, we elaborated four specific objectives, which made us organize the dissertation in three main phases. The objective of the first phase is to analyze the concept of CS presented in the health literature, according to Rodgers\' evolutionary model of concept analysis. This model is arranged in six steps, recommending the analysis of the studies surveyed by means of inductive thematic analysis and their interpretation according to the theoretical framework of the culture concept. As a result, we obtained the components of the concept, which help us understand it. These are: antecedent - being diagnosed with cancer; consequent - quality of life of cancer survivors (StC) and personal growth; attributes - liminality process and culturally congruent care; substitute terms - StC, long-term survival and individuals living after the cancer diagnosis, and finally the related terms - cancer survival and rehabilitation. For the second phase, the purpose was to apprehend the meanings attributed to being StC among the patients, as well as to describe the meanings adult and elderly patients attribute to the CS concept through narrative syntheses. Thus, we built a qualitative study, using the narrative method and the reference framework of medical anthropology. We held semistructured interviews with 14 participants diagnosed with different types of urological cancer, male and female, adult and elderly, with at least three months post-treatment. After transcribing the data, they were analyzed according to inductive thematic analysis and two narrative syntheses were elaborated, the first being the dualities of life after the treatment; from loss of self-control, the uncertainty of the disease relapse to optimism and hope. In this synthesis, we discuss the survivor\'s experience with the disease, the loss of control the disease triggers and the consequent personal growth and gaining of optimism despite the circumstances experienced. The second synthesis is entitled: Who am I? Am I a cancer survivor? Self-reflection on the identity after the primary cancer treatment. In this synthesis, we apprehend the participants\' reflection on how they see themselves and attribute meanings to being ill, cured, victim and mainly StC. These two narrative syntheses allowed us to describe and get closer to the meanings attributed to CS. The third phase was developed in three topics, the first being the comparison between the results of phase one and phase two, complemented with the importance of oncology nursing in care for StC and a reflection on the current public health policies. This dissertation updates the concept of CS and offers new perspectives, contributing to oncology nursing

Introdução: A quimiorradioterapia (QRT) concomitante baseada em cisplatina é uma opção de tratamento empregada para os pacientes com carcinoma epidermoide de cabeça e pescoço (CECCP) localmente avançado e com bom performance status, seja em caráter adjuvante ou definitivo. O ganho de sobrevida com esta modalidade de tratamento é acompanhado de aumento das toxicidades agudas em comparação com a radioterapia isolada. A ocorrência de toxicidades tardias é menos reportada na literatura e incluem xerostomia, disfagia, hipotireoidismo, ototoxicidade, fístula/necrose cutânea, dentre outras. Tais sequelas tardias podem comprometer a qualidade de vida do sobrevivente ao CECCP. Objetivos: Verificar a prevalência de toxicidades tardias em sobreviventes ao CECCP tratados com QRT baseada em cisplatina. Métodos: Estudo transversal, uni-institucional, que incluiu de forma sequencial pacientes acima de 18 anos, tratados para CECCP (sítios primários: nasofaringe, orofaringe, cavidade oral, hipofaringe e laringe) e que haviam recebido QRT adjuvante ou definitiva, baseada em cisplatina. Estes pacientes estavam em seguimento há pelo menos 2 anos, sem evidência de doença. Os pacientes realizaram audiometria, endoscopia digestiva alta (EDA), nasofibrolaringoscopia da deglutição (NFL), exames laboratoriais (toxicidade tireoidiana e renal). Os pacientes incluídos também foram examinados clinicamente e as toxicidades apresentadas foram graduadas de acordo com a escala de toxicidades tardias do RTOG/EORTC. Os sobreviventes foram ainda avaliados quanto à percepção das toxicidades através de um inventário de sintomas e responderam questionários de qualidade de vida. Resultados: De janeiro de 2014 a fevereiro de 2017, 120 pacientes assinaram o TCLE. A idade mediana dos pacientes é 59 anos (21-78), com predomínio do sexo masculino (73%) e da cor branca (58%). Antecedente de tabagismo foi referido por 80% da amostra e de etilismo por 63%. Referente ao sítio primário, a maioria dos pacientes apresenta tumor em orofaringe (42%), seguido por laringe (23%) e cavidade oral (19%). O tempo de seguimento mediano é 42 meses (24-125). Há predomínio de pacientes com doença localmente avançada, tumores T3/T4 em 75% da amostra e N+ em 72%. A dose mediana de cisplatina recebida durante a concomitância foi 300 mg/m² (100-300) e de radioterapia foi 70 Gy (60-70,4). A QRT foi oferecida em caráter adjuvante em 49% da amostra. As toxicidades mais relatadas pelos pacientes foram: xerostomia (83%), alteração na voz (74%), saliva pegajosa (73%) e disfagia (73%). Ao se graduar as toxicidades conforme escala do RTOG/EORTC, verificou-se que a maioria das toxicidades apresentadas eram de graus leves, 1 ou 2. EDA encontrou estenose faríngea em 10% dos pacientes e NFL identificou fibrose em 37% dos sobreviventes. Dos pacientes submetidos a audiometria, 42% apresentaram perda auditiva de possível causa ototóxica. Cerca de 14% dos sobreviventes apresentam clearance de creatinina estimado < 60 mL/min/1,73m². Conclusões: Toxicidades tardias foram frequentemente reportadas pelos sobreviventes ao CECCP após QRT, porém, na maioria das vezes, de intensidade leve (graus 1 ou 2). Após a QRT, um seguimento cuidadoso é essencial para diagnóstico precoce e reabilitação a essas toxicidades, a fim de preservar a funcionalidade e qualidade de vida dos pacientes / Background: Cisplatin based CRT is the standard therapy for patients with locally advanced HNSCC with good performance status either as adjuvant or as definitive treatment. The survival gain with this treatment modality is accompanied by an increase in acute toxicities in comparison with isolated radiotherapy. The occurrence of LT is less reported in the literature and includes xerostomia, dysphagia, hypothyroidism, ototoxicity, cutaneous fistula / necrosis, among others. Such late sequelae may compromise the survivor\'s quality of life. Endpoints: To verify the prevalence of late toxicities in HNSCC survivors treated with cisplatin based CRT. Methods: A cross-sectional study that sequentially included patients over 18 years of age who were previously treated for HNSCC (primary sites: nasopharynx, oropharynx, oral cavity, hypopharynx and larynx) and who had received either adjuvant or definitive cisplatin based CRT. These patients were in follow-up for at least 2 years, with no evidence of disease. The patients underwent audiometry, upper GI endoscopy, nasopharyngolaryngoscopy (NPL), laboratory tests (thyroid and kidney toxicity). The included patients were also clinically assessed for mucous membrane, skin, subcutaneous tissue, salivary gland, larynx and esophagus LT according to the RTOG/EORTC Late Radiation Morbidity Scoring Schema. All patients answered a questionnaire about their perception of LT through a symptoms inventory and also answered QoL questionnaires. Results: From January 2014 to February 2017, 120 patients signed the informed consent form. The mean age of the patients is 59 years (21-78), predominantly male (73%) and white (58%). Previous smoking habits were reported by 80% of the sample and alcohol consumption by 63%. Most common primary sites were oropharynx (42%), followed by larynx (23%) and oral cavity (19%). The median follow-up time is 42 months (24-125). There was a predominance of locally advanced disease, T3 / T4 tumors in 75% of the sample and N + in 72%. The median cisplatin dose during concomitance was 300 mg/m² (100-300) and the median radiotherapy delivered dose was 70Gy (60-70.4). CRT was delivered as an adjuvant treatment in 49% of the sample. The most frequently selfreported LT were xerostomia (83%), voice disorders (74%), sticky saliva (73%) and dysphagia (73%). Assessing the toxicities according to the RTOG / EORTC scale most of them were mild, grade 1-2. Upper GI endoscopy diagnosed stenosis in 10% of the patients and NPL identified fibrosis in 37% of the survivors. Audiometry identified ototoxic hearing loss in 42% of the sample. About 14% of the survivors present chronic kidney disease (an estimated creatinine clearance < 60 mL/min/1.73m²). Conclusion: High rates of self-reported LT were detected although most of them seem to be mild. After CRT, a close follow-up of HNSCC patients is essential for early diagnosis, treatment of these late sequelae and rehabilitation, in order to preserve QoL and functionality and to avoid lifethreatening conditions and social reclusion

Breast cancer in women of productive age is a huge problem of the current population. Approximately 52% of women, which were diagnosed with breast cancer in 2013, were aged 20-64. The aim of this thesis is to discover the influence of surgical solution of breast cancer on women return to their original profession. There were 68 suitable participants, who received surgical treatment, were aged 20-64, with finished treatment and who went back to their original employment. The results show that amongst manually working women, 60,9% return to their original employment, in administrative 78% return, which, in acceptance region of 0,05 (p = 0,142), is not a statisticaly significant difference. Furthermore, it was not found that age and lenght of treatment are connected (p=0,040). It appears that the time it takes to return to employment is significantly connected to the type of operation (acceptance region 0,05, p=0,046). This research shows how important it is for women after breast cancer treatment to receive timely rehabilitational intervention and to return to employment and how this affects their quality of life. Key words: Breast cancer, occupational therapy, return to work, cancer survivors, quality of life, quantitative research

Introduktion Det finns en kunskapslucka kring kvinnors upplevelser av sin sexualitet efter bekräftad bröstcancerdiagnos. Sexuell hälsa är ett relevant ämne för arbetsterapeuter som kräver vidare forskning för att kunna erbjuda dessa kvinnor individanpassat stöd inom ramarna för sexuell hälsa och arbetsterapi. Syftet med studien var att identifiera kvinnors upplevelser kring sin sexualitet efter bekräftad bröstcancerdiagnos. Metoden som användes var en kvalitativ intervjustudie med semistrukturerade intervjufrågor. Informanterna rekryterades genom ett bekvämlighetsurval. Tio kvinnor med bekräftad bröstcancer intervjuades, materialet analyserades enligt en kvalitativ innehållsanalys. Resultat Innehållsanalysen resulterade i fyra teman; Sexualiteten påverkas av en förändrad kropp och självbild, Ingen vill ta ansvar för sexualiteten, Sexualiteten bortprioriterades när cancern kastade omkull livet och Det finns ett behov av att prata om sexualitet. Slutsatsen av studien är att kvinnorna inte tänkte på sin sexualitet direkt efter bröstcancerbeskedet utan först när behandlingarna påbörjats. Kvinnorna upplevde att vården brast i frågor kring sexualitet och återgång till betydelsefulla aktiviteter. / Introduction There is a knowledge gap around women’s experiences of their sexuality after a confirmed breast cancer diagnosis. Sexual health is a relevant topic for occupational therapists that requires further research to offer these women individualized support within the frames of sexual health and occupational therapy. The purpose of this study was to identify women’s experiences about their sexuality after a confirmed breast cancer diagnosis. The chosen method was a qualitative interview study with semi-structured interview questions. The informants were recruited through a convenience sampling. Ten women with confirmed breast cancer were interviewed, the data were analyzed according to a qualitative content analysis. Results The content analysis resulted in four themes; The sexuality is affected by a changed body and body image, No one wants to take responsibility for sexuality, Sexuality was de-prioritized when cancer overthrew life and There is a need to talk about sexuality. The conclusion of the study is that women did not think of their sexuality when receiving a breast cancer diagnosis. However, they did think about it when starting the breast cancer treatments. The women experienced deficiencies in healthcare related to sexuality and return to meaningful occupations.

Currently, little evidence has been gathered on the impact of listening to preferred music on the healing experiences of cancer patients, justifying the need for qualitative inquiry. Three disease-free women that survived breast cancer were invited to share their stories about how listening to preferred music assisted in decreasing their symptoms of depression, fatigue, and pain during their recovery. Data analysis followed a multiple case study methodology. Findings reveal the importance of listening to music and its affect on the emotional and physiological state of cancer patients, as well as their ability to cope with their illness. Four major themes emerged from the transcripts of participants: Music as Vibration, Music as Getaway, Music as Emotion Regulation, and Music as Spiritual Validation.

Introduktion: Varje år drabbas omkring 400 000 barn och ungdomar av cancer. Överlevnadsgraden för barncancer ökar stadigt och i Sverige överlever cirka 85% av alla barn men till ett pris av sena komplikationer. Att drabbas av en livshotande sjukdom handlar inte enbart om att besegra den, utan även att kunna leva ett värdigt liv efter sjukdom. Syfte: Undersöka tonåringar och unga vuxnas erfarenheter av livet efter barncancer. Metod: En litteraturöversikt med deskriptiv design enligt Forsberg och Wengström. Studien baseras på tolv vetenskapliga orginalartiklar med kvalitativ ansats och kvalitetsgranskades med SBU:s granskningsmall för kvalitativa studier. Resultat: Fyra teman identifierades; svårigheter att möta det nya normala, utvecklats som person med nya perspektiv och värderingar, sociala relationer förändras, samt rädsla och oro inför framtiden. Tonåringar och unga vuxna upplevde fysiska, psykiska och emotionella svårigheter gällande att möta vardagen efter avslutad behandling. Känslor av att ha förändrats som person uppstod, och cancererfarenheten gav nya värderingar och livsperspektiv. Sjukdomstiden inverkade på socialt liv, och efter sjukdomstiden upplevdes förändrade sociala relationer till familj och vänner. Erfarenheterna medförde rädsla för återfall och oro för framtida hälsokonsekvenser. Slutsats: Tonåringar och unga vuxna som har haft barncancer upplevde livet annorlunda efter avslutad behandling, jämfört med före sjukdomstiden. Resultatet är värdefull kunskap för sjuksköterskor gällande vikten att arbeta preventivt för att barn med cancer ska vara förberedda på att möta livet efter cancer, samt värdet att våga prata om cancersjukdomens innebörd med dem som haft barncancer. Att vara cancerfri, innebär inte att individen frigörs från lidande. / Background: Approximately 400 000 children and young people in the world are diagnosed with cancer every year. The survival rate for childhood cancer is steadily increasing and in Sweden approximately 85% of all children survive, but at the cost of complications that can arose afterwards. Suffering from a life-threatening disease is not only about defeating it, but also to be able to live a worthy life after the illness.  Aim: Examine adolescents and young adults´ experiences of life after childhood cancer.  Method: A literature review with descriptive design according to Forsberg and Wengström. The study was based on twelve scientific articles with a qualitative approach and were quality reviewed using SBU´s review template for qualitative studies. Result: Four themes were identified; difficulties in meeting the new normal, developed as a person with new perspectives and values, changed social relationships and fear and concern about the future. Adolescents and young adults experienced physical, psychological and emotional difficulties when partaking in the everyday life after completing treatment. Feelings of having changed as a person arose, and the cancer experience gave new values and perspectives of life. The period of illness affected social life, and the period after illness was felt differently within their social relationships with family and friends. The experience brought a fear of relapse and concern about the future health consequences. Conclusion: Adolescents and young adults who have had childhood cancer experienced life differently after treatment, compared to their life before the illness. The outcome is seen to be valuable knowledge for nurses regarding the importance of working preventive so that children with cancer can be prepared to face life after cancer, as well as the importance of daring to talk about the meaning of cancer with those who have had childhood cancer. Being cancer-free does not mean that the individual is freed from suffering.

No description available.

No description available.

Je tiens à remercier les bourses des IRSC en collaboration avec le programme COPSE, les Bourses du Programme de Sciences biomédicales 2014-2015 et les Bourses d’excellence de la Faculté des études supérieures et post-doctorales Hydro-Québec (2015- 2016) pour leur contribution. / Introduction. Avec l’optimisation des traitements, le taux de guérison de la leucémie lymphoblastique aigüe (LLA) de l’enfant approche 90%. Cependant, 60% des survivants devront faire face à des complications à long-terme en lien avec les traitements. Ces patients ont un risque accru de complications cardiométaboliques telles que l’obésité, la résistance à l’insuline, la dyslipidémie et l’hypertension artérielle. Alors qu’il est reconnu que des facteurs génétiques contribuent au développement de ces complications, peu d’études ont observé l’impact de ces déterminants chez les survivants. Le but de cette étude est d’évaluer les associations entre les variantes rares et communes et le développement des complications cardiométaboliques chez les survivants de la LLA. Méthodes. La caractérisation du profil cardiométabolique et le séquençage de l’exome ont été réalisés dans une cohorte de 209 survivants de la LLA pédiatrique. Les variantes associées avec les complications cardiométaboliques ont été identifiées avec PLINK (commune) ou SKAT (rare et commune) et une régression logistique a été utilisée pour évaluer leur impact dans des modèles multivariés. Résultats. Nos analyses ont démontré que des variantes rares et communes dans les gènes BAD et FCRL3 sont associées au risque de présenter un phénotype dit extrême, soit trois facteurs de risque cardiométabolique et plus. Les variantes communes dans OGFOD3 et APOB et les variantes rares et communes dans BAD ont été associées à la dyslipidémie. Les variantes communes dans BAD et SERPINA6 ont été associées respectivement à l’obésité et la résistance à l’insuline. Conclusion. Notre étude a révélé une susceptibilité génétique au développement des complications cardiométaboliques chez les survivants de la LLA pédiatrique. Ces biomarqueurs pourront être utilisés pour la détection précoce et l’intervention chez cette population à haut risque. / Background. While cure rates for childhood acute lymphoblastic leukemia (cALL) now exceed 80%, over 60% of survivors will face treatment-related long-term sequelae, including cardiometabolic complications such as obesity, insulin resistance, dyslipidemia and hypertension. Although genetic susceptibility contributes to the development of these problems, there are very few studies that have so far addressed this issue in a cALL survivorship context. In this study, we aimed at evaluating the associations between common and rare genetic variants and long-term cardiometabolic complications in survivors of cALL. Method. We examined the cardiometabolic profile and performed whole-exome sequencing in 209 cALL survivors from the PETALE cohort. Variants associated with cardiometabolic outcomes were identified using PLINK (common) or SKAT (common and rare) and a logistic regression was used to evaluate their impact in multivariate models. Results. Our results showed that rare and common variants in the BAD and FCRL3 genes were associated (p<0.05) with an extreme cardiometabolic phenotype (3 or more cardiometabolic risk factors). Common variants in OGFOD3 and APOB as well as rare and common BAD variants were significantly (p<0.05) associated with dyslipidemia. Common BAD and SERPINA6 variants were associated (p<0.05) with obesity and insulin resistance, respectively. Conclusion. In summary, we identified genetic susceptibility loci as contributing factors to the development of late treatment-related cardiometabolic complications in cALL survivors. These biomarkers could be used as early detection strategies to identify susceptible individuals and implement appropriate measures and follow-up to prevent the development of risk factors in this high-risk population.