[Medulloblastoma : management of a usually pediatric tumour in a young adult]. / Médulloblastome : prise en charge d'une tumeur habituellement pédiatrique chez un jeune adulte.

Medulloblastoma is a cerebellar grade IV tumour according to the WHO classification, mainly seen in children under the age of 15. This cancer can nevertheless occur in adults. We report the case of a 22-year-old patient with a medulloblastoma disseminated in the spine. The patient had a type 1 Arnold-Chiari malformation causing hydrocephalus treated by ventriculoperitoneal shunt. The current condition began with perineal and lower limb hypoesthesia, ataxic gait, erectile dysfunction and urinary incontinence. Subsequently, a predominant paraparesis of the right lower limb appeared. The patient was treated according to the PNET HR+5 protocol combining two courses of conventional chemotherapy followed by two courses of high-dose chemotherapy with autograft recovery. Given the excellent response, a proton therapy was then delivered to the whole cerebrospinal axis with boosts to the primary tumour sites. The case of this young adult patient shows on the one hand an atypical presentation, and on the other hand underlines, in the absence of a specific therapeutic strategy established for adults, the importance of collaboration between the adult and pediatric oncology departments, with management integrating innovations such as proton therapy and molecular typing.

Le médulloblastome est une tumeur cérébelleuse de grade IV selon l'Organisation Mondiale de la Santé, principalement observée chez les enfants de moins de 15 ans. Ce cancer peut néanmoins survenir chez l'adulte. Nous rapportons le cas d'un patient de 22 ans présentant un médulloblastome disséminé au niveau du rachis. Le patient est porteur d'une malformation d'Arnold-Chiari de type 1 provoquant une hydrocéphalie traitée par dérivation ventriculo-péritonéale. L'affection actuelle a débuté par une hypoesthésie du périnée et des membres inférieurs, une démarche ataxique, un trouble érectile et des troubles vésico-sphinctériens. Par la suite est apparue une paraparésie prédominant au membre inférieur droit. Le patient a été traité selon le protocole pédiatrique PNET HR+5 combinant deux cures de chimiothérapie conventionnelle suivies de deux cures de chimiothérapie à haute dose avec rattrapage par autogreffe. Vu l'excellente réponse, une protonthérapie a été administrée sur l'axe cérébrospinal avec surdosages sur les sites primaires de la tumeur. Le cas de ce jeune adulte illustre, d'une part, une présentation atypique et d'autre part, souligne, en l'absence de stratégie thérapeutique spécifique établie pour l'adulte, l'importance de la collaboration entre les services d'Oncologie adulte et pédiatrique, la prise en charge intégrant les innovations telles que la protonthérapie et le typage moléculaire.

[The rise of targeted therapies in pediatric oncology]. / L'essor des thérapies ciblées en oncologie pédiatrique.

Cancers are rare pathologies in children. Improvement in survival rates has been obtained thanks to new therapeutic strategies based on the identification of risk factors. Targeted therapies in paediatric oncology are new treatments providing hope that cure is achievable without long-term sequelae.

Les cancers pédiatriques sont des pathologies rares. L'amélioration du taux de survie a été obtenue par de nouvelles stratégies de traitement basées sur l'identification de facteurs de risque. Les thérapies ciblées en oncologie pédiatrique, nouvelle arme thérapeutique, sont porteuses d'espoir de guérison, sans séquelles à long terme.

[What follow-up after pediatric cancer ? The SALTO consultation experience]. / Quel suivi après un cancer pédiatrique ? L'expérience de la consultation SALTO.

During the past 50 years, the mortality due to childhood cancers decreased dramatically thanks to improvements in supportive care and the use of multimodal approaches. In this context, the long-term follow up after childhood cancer has become a main concern for pediatric oncologists. The SALTO programme was developed in 2012 at the CHR Citadelle in Liège in order to organize a multidisciplinary long-term follow-up for the patients previously treated in our department for a childhood cancer. The aim of the present study was to review, for the most frequent childhood cancers, the long-term sequellae and the second cancers developed by the patients participating to the SALTO programme in order to define the follow-up needed. Our data confirm the importance of a multidisciplinary long-term follow-up, based on the treatments received and following international guidelines.

Au cours des cinquante dernières années, la mortalité liée aux cancers pédiatriques a fortement diminué grâce à une amélioration des soins de support et à l'utilisation d'approches multimodales. Dans ce contexte, le devenir à long terme des patients guéris d'un cancer pédiatrique est devenu une des préoccupations majeures pour les oncologues pédiatres. Dans cette optique, la consultation SALTO («Suivi À Long Terme en Oncologie¼) a été mise en place en 2012 au CHR de la Citadelle pour assurer le suivi multidisciplinaire des adultes ayant été traités dans notre secteur d'hémato-oncologie pédiatrique. L'objectif de cette étude a été de revoir, pour les cancers pédiatriques les plus fréquents, les séquelles et les tumeurs secondaires présentées par les patients suivis en consultation SALTO afin de préciser les modalités du suivi au long cours après cancer pédiatrique. Nos résultats confirment l'importance d'un suivi multidisciplinaire à long terme adapté aux traitements reçus, sur base de recommandations internationales.

[Catatonia, complicated withdrawal from benzodiazepines]. / Vignette thérapeutique de l'étudiant Syndrome catatonique lié à un sevrage compliqué en benzodiazépines.

The article describes a clinical case of catatonic syndrome. We describe the manifestations of the syndrome, its diagnostic criteria and associated scales. The modalities of the challenge test, constituting a diagnostic test, and first line treatment are detailed. Clinical and paraclinical investigations are proposed to determine the etiology. The benzodiazepine withdrawal as an etiology of catatonic syndrome is detailed.

L'article expose un cas clinique de syndrome catatonique. Nous y décrivons les manifestations du syndrome, ses critères diagnostiques et échelles associées. Les modalités du «challenge test¼, constituant une épreuve diagnostique, et le traitement de première ligne sont détaillés. Des investigations cliniques et paracliniques sont proposées afin d'en déterminer l'étiologie. Le sevrage en benzodiazépines comme étiologie du syndrome catatonique est discuté.

[Epidemiology of childhood cancer, a single-center study (1985-2016)]. / Epidémiologie des cancers de l'enfant, une étude monocentrique (1985-2016).

Cancer is the second leading cause of death among children aged 5 to 14, after accidents. We conducted a study on the epidemiology of childhood cancer in the university pediatric oncology department of the CHU-CHR in Liège, Belgium. We studied a cohort of 662 patients between the ages of 0 and 17 whose malignancy diagnosis was made between 1985 and 2016. The analyzes were performed retrospectively using medical files. The number of new cases, the proportion of different cancers, sex ratio, age at diagnosis and survival at 5 and 10 years were the epidemiological factors studied.We have been able to show an increase in the number of new diagnoses per year. More than 40 % of childhood cancers occur before the age of five. The most common neoplasias are leukemias, tumors of the central nervous system and lymphomas. This distribution is influenced by age. All malignant tumours combined, we observed a slightly larger proportion of affected boys than girls. Overall survival at 5 years reaches 80.2 %. However, it varies according to the type of tumour from 59.3 % for malignant soft tissue tumors up to 100 % for hepatoblastomas.

Le cancer est la deuxième cause de décès chez les enfants de 5 à 14 ans, après les accidents. Nous avons réalisé une étude sur l'épidémiologie des cancers de l'enfant au sein du service universitaire d'oncologie pédiatrique du CHU-CHR de Liège. Nous avons étudié une cohorte de 662 patients, âgés de 0 à 17 ans, dont le diagnostic de tumeur maligne a été posé entre 1985 et 2016. Le nombre de nouveaux cas, la proportion des différents cancers, le sex ratio, l'âge au diagnostic et la survie à 5 et 10 ans ont été les facteurs épidémiologiques étudiés. Nous avons pu démontrer une augmentation du nombre de nouveaux diagnostics par an. Plus de 40 % des cancers de l'enfant surviennent avant l'âge de 5 ans. Les néoplasies les plus fréquentes sont les leucémies, les tumeurs du système nerveux central et les lymphomes. Cette répartition est néanmoins influencée par l'âge. Toutes tumeurs malignes confondues, nous avons observé une proportion légèrement plus grande de garçons atteints que de filles. La survie globale à 5 ans s'élève à 80,2 %. Elle varie cependant selon le type de tumeur de 59,3 % pour les tumeurs malignes des tissus mous jusqu'à 100 % pour les hépatoblastomes.

Review: Somatic mutations in neurodegeneration.

Somatic mutations are postzygotic mutations which may lead to mosaicism, the presence of cells with genetic differences in an organism. Their role in cancer is well established, but detailed investigation in health and other diseases has only been recently possible. This has been empowered by the improvements of sequencing techniques, including single-cell sequencing, which can still be error-prone but is rapidly improving. Mosaicism appears relatively common in the human body, including the normal brain, probably arising in early development, but also potentially during ageing. In this review, we first discuss theoretical considerations and current evidence relevant to somatic mutations in the brain. We present a framework to explain how they may be integrated with current views on neurodegeneration, focusing mainly on sporadic late-onset neurodegenerative diseases (Parkinson's disease, Alzheimer's disease and amyotrophic lateral sclerosis). We review the relevant studies so far, with the first evidence emerging in Alzheimer's in particular. We also discuss the role of mosaicism in inherited neurodegenerative disorders, particularly somatic instability of tandem repeats. We summarize existing views and data to present a model whereby the time of origin and spatial distribution of relevant somatic mutations, combined with any additional risk factors, may partly determine the development and onset age of sporadic neurodegenerative diseases.

[Experimental study on the intolerance of uncertainty and cognitive biases in parents of child cancer survivor]. / Étude expérimentale sur l'intolérance à l'incertitude et biais cognitifs chez les parents d'un enfant survivant de cancer.

Studies in pediatric oncology describe a relative good quality of life in child cancer survivor. However, few studies were interested in the parents of a child cancer survivor. 61 parents are recruited in the Belgian hospitals. Three groups of parents are constituted : the parents whose child is in 4 years of survivorship (group 1), in 5 years of survivorship (group 2) and in 6 years of survivorship (group 3). Clinical scales and a Stroop emotion task are administered. Parents (of the 3 groups) present a low tolerance of uncertainty, have excessive worries about the evolution of the health of their child, and suffer from anxious symptoms. The Stroop emotion tasks reveals a cognitive bias of the attention in favour of threatening stimuli. The study highlights the importance to detect parents who are intolerant of uncertainty at the cancer diagnosis stage and their continuous psychological follow-up once the treatments are ended.

Les études en oncologie pédiatrique décrivent une relativement bonne qualité de vie chez les enfants survivants de cancer. À ce jour, peu d'études se sont intéressées aux parents d'un enfant survivant de cancer. Soixante-et-un parents sont recrutés dans les hôpitaux belges. Trois groupes de parents sont constitués : les parents dont l'enfant est à 4 ans de rémission (groupe 1), à 5 ans de rémission (groupe 2) et à 6 ans de rémission (groupe 3). Des échelles cliniques et une tâche de Stroop émotion sont administrées. Les parents (des 3 groupes) présentent une faible tolérance à l'incertitude, ont des inquiétudes excessives quant à l'évolution de la santé de leur enfant et souffrent de symptômes anxieux. Le Stroop émotion révèle un biais cognitif de l'attention en faveur des stimuli de nature menaçante. L'étude met en exergue l'importance de détecter les parents intolérants à l'incertitude lors du diagnostic d'annonce du cancer et leur suivi psychologique continu une fois les traitements terminés.

[Rectal prolapse revealing a tumor: The role of abdominal ultrasound]. / Prolapsus rectal révélant une tumeur : intérêt de l'échographie abdominale, à propos de 3 cas.

Rectal prolapse is rare in children and usually benign. However, there are various diseases that can be associated with it, such as cystic fibrosis or other causes of increased abdominal pressure. Here, we review the various underlying conditions that pediatricians or pediatric gastroenterologists should consider in the case of rectal prolapse. We report on three cases of children with a rectal prolapse and intra-abdominal tumors. Current recommendations and practice do not include a systematic check via abdominal imaging in cases of rectal prolapse. However, in some situations, imaging is indicated to detect a possible expansive process. Thus, in the presence of recurrent prolapse or of associated urinary or neurological signs, imaging is justified so as to allow for an early diagnosis and treatment of these neoplasms. Given its lack of radiation exposure and good sensitivity in children, ultrasound imaging is the first choice.

Nasal heterotopia versus pilocytic astrocytoma: A narrow border.

Failure of the anterior neuropore can lead to three main types of anomalies: nasal dermal sinus, encephalocele and nasal glioma or heterotopia. In this report, we describe a case of intracranial and extracranial glial heterotopia that probably resulted from a common failure of anterior neuropore development. We describe the prenatal radiological assessment based on ultrasound and MRI results, and consider their limitation for early fetal diagnosis. We also discuss the embryogenesis and the possible pathogenic mechanisms involved.

Paravertebral Burkitt's Lymphoma in a Child: An Unusual Presentation.

Paravertebral malignant tumors constitute 4.8% of cancer cases in pediatric oncology and are mostly composed of neuroblastoma (46.4%) and soft tissue sarcomas (35.7%). We describe the case of a Caucasian 6-year-old boy who was admitted for middle back pain radiated to limbs and progressively increasing weakness of the legs, suggesting a spinal cord disease. The exploration revealed two paravertebral masses extending through the neural foraminae into the epidural space. The association with elevated serum neuron specific enolase suggested at first the diagnosis of neuroblastoma, but the pathological examination revealed a Burkitt's lymphoma. This is a rare location of sporadic Burkitt's lymphoma with neurologic syndrome as first symptoms.

Comparison between a guaiac and three immunochemical faecal occult blood tests in screening for colorectal cancer.

BACKGROUND: The aim of this study was to compare the performance of the guaiac-based faecal occult blood test (G-FOBT), with that of three immunochemical faecal occult blood tests (I-FOBT) which allow automatic interpretation. PATIENTS AND METHODS: Under the French organised screening programme, 85,149 average-risk individuals aged 50-74 participating in the third screening round, performed both the G-FOBT (Hemoccult-II test) and one of the I-FOBTs: FOB-Gold, Magstream and OC-Sensor. RESULTS: Given the chosen threshold, the positivity ratio between the different I-FOBTs and the G-FOBT was 2.4 for FOB-Gold, 2.0 for Magstream and 2.2 for OC-Sensor (P=0.17). The three I-FOBTs were superior to the G-FOBT for colorectal cancer (CRC) detection. The ratios for detection rates were 1.6 (FOB-Gold), 1.7 (Magstream) and 2.1 (OC-Sensor) (P=0.74). For non-invasive CRC they were, respectively, 2.5, 3.0 and 4.0 (P=0.83) and for advanced adenomas 3.6, 3.1 and 4.0 (P=0.39). CONCLUSIONS: This study provides further evidence that I-FOBT is superior to G-FOBT. None of the three I-FOBTs studied appeared to be significantly better than the others.

[Cytological study of 191 women with invasive cancer of the uterine cervix in Brittany, France]. / Histoire cytologique de 191 patientes atteintes d'un cancer invasif du col de l'utérus en région Bretagne.

INTRODUCTION: The cancer of the cervix annually occurs in 150 women in Brittany in the absence of organized screening. MATERIAL AND METHODS: Retrospective study concerning 191 patients treated for an invasive cancer of the uterine cervix between 2000 and 2005 analyzing their cytological past. The average age of the patients was 52 years (22-87 years). The socioeconomic level of the patients was recorded. The distribution of under histological types was: squamous, 73% (54 years average age) and adenocarcinoma, 22% (average age 47 years). All the stages were represented: stage I 46%, II 32%, III 9% and stage IV 13%. RESULTS: Cancer was symptomatic in 89% of the cases and 72% of the patients had not profited from cytological screening according to French recommendations (50% no follow-up, 22% follow-up between three and 10 years), while 28% of the patients had a smear in the three years. The socioeconomic level of the patients strongly influenced the participation in screening. The proportion of patients having an invasive adenocarcinom was 31% in the patients with a smear going back to less than three years (versus 22% in our total population) and this histological subtype was mainly represented in patients less than 35 years old (35%). Lastly, 2,6% of the patients were lost after realization of a pathological smear. CONCLUSION: The extension of screening and its organization remain a priority in our area. The average sensitivity of the smear is illustrated by the on-representation of the adenocarcinoma, in particular among young women.

Colonoscopy results of a French regional FOBT-based colorectal cancer screening program with high compliance.

BACKGROUND AND STUDY AIMS: Mass screening for colorectal cancer in France was initiated in pilot regions on the basis of the fecal occult blood test (FOBT) followed by colonoscopy in positive cases. We report the colonoscopy results in one of the first areas to be screened (Ille et Vilaine). PATIENTS AND METHODS: Of the total regional population of 908,449, 187,342 of the 213,635 potential screening candidates who were aged 50 - 74 years were invited for FOBT. Of the 51.3% compliant individuals, 2.6% were positive, and of these 90.7% agreed to undergo colonoscopy (n = 2246). The colonoscopy procedure details, findings, and complications were recorded. Subjects were classified according to the most advanced lesion. Positive predictive values of FOBT were calculated according to sex and age. RESULTS: Colonoscopy was complete in 96.3% of cases. Only 23 adverse events were encountered (1.02%). Colorectal cancer was diagnosed in 237 cases (10.6%, 78.4% of which were clinical stages I - II). The rates of overall adenomas and advanced adenomas were 33.1 % and 21.6 %, respectively. The risk of cancer and advanced adenoma increased significantly in men and in older people. CONCLUSION: The results of mass screening with FOBT followed by colonoscopy in this population-based study are very encouraging in terms of compliance, early findings, and complications. Extension of this program to the whole of France is justified.

[Clinical evaluation of 23 children with neuroblastoma. The experience of a single institution]. / Les neuroblastomes de l'enfant. A propos de 23 cas.

In this retrospective study, we analyse epidemiology, clinical symptoms and therapeutic results in a group of 23 children with neuroblastoma. Half of them were less than 2 years of age; in 19 of 23, the primitive tumour was abdominal; 35% of them were initially metastatic. The overall survival was 83% at 5 years and the event free survival, 75% at 5 years. Pronostic factors are age, extension of the disease at diagnosis, biologic parameters and genetic study of the neuroblast cells (amplification of N-myc oncogen). Our study shows the deleterious effect of bone lesions.

[Pathological implications in the neuroendocrine gastrointestinal system]. / Implications pathologiques du système neuroendocrinien digestif.

The neuroendocrine system is made of endocrine cells disseminated in various organs. In this article, we will focus on the implication of the neuroendocrine system in digestive pathology. First of all, we will review the neuroendocrine tumors in every location and then describe their classification, epidemiology, symptomatology, diagnosis and treatment. Finally, we will consider the implications of the neuroendocrine system in the inflammatory and functional pathology of the digestive tract.

[Breast cancer screening and medical consumption]. / Dépistage du cancer du sein et consommation médicale.

BACKGROUND: The use of general health services by women targeted by breast cancer screening campaigns, and its variations, are poorly known. A survey has been undertaken during one of these campaigns in a britton department. This study aimed at pointing out possible differences in use of general health services: search for an overuse by women whose screening resulted positive/negative, in relation to women whose screening resulted full negative; search for an overuse by women having participated, in relation to women within the age range of the screening campaign and not having wished to participate. METHODS: Three groups of women, aged 50 to 69 years, free of breast cancer, were compared. A random sample was drawn in each group, weighing for age in group D0. Inclusion of cases was undertaken between January 1995 (beginning of the screening campaign) and June 1996. Use of health services was recorded during the six months following the first screening test, using the health insurance services data. Expenses related to inpatient care were not recorded. RESULTS: The structure of age of the three groups was comparable. The proportion of women having requested no reimbursement was identical between the groups D+ and D-. For the D+ group, the average cost was 4,246 Francs per woman. It dropped to 3,871 Francs after deduction of expenses related to additional medical examinations following the finding of a positive screening test. It was 5% higher than the average cost in the D- group (3,698 Francs). The cost varied a great deal within each group and the differences observed between the groups were not statistically significant The proportion of women of the D0 group not having requested any reimbursement was significantly lower than those of the groups D- and D+, overall, and for the majority of the categories of expenditure. CONCLUSION: The result of the screening does not induce significant variation of use of general health services, apart from the expenses induced by the invalidation of the positive result. The group of women not having participated in screening includes a stronger proportion of both low and higher health services users.

[Radiologic analysis of known-interval cancers after 2 years of organized mass screening for breast cancer in Ille-et-Vilaine]. / Analyse radiologique des cancers d'intervalle connus apres deux ans de campagne de dépistage de masse organisé (DMO) du cancer du sein en Ille-et-Vilaine.

The first thirty-two known interval breast cancers (appearing within the first or second year after a negative screen) occurring during a two-year breast screening round were reviewed and the radiograms analyzed. Five classes were established: true interval cancers (13/32 cases), radiologically occult cancers (2/32), cancers with no specific sign (7/32), false negative cancers (5/32) and unclassifiable cancers (5/32). In more than 50% of the cases, there was no abnormality on the initial radiographic test, although the literature reports that the rate of false-negatives in interval cancers is less than 20%. Standard classification (by at least 3 readers) is very important to provide a possible explanation of cancer development. Action should be initiated to reduce their number.

Mass screening programs for breast cancer in France--average values of assessment criteria.

Breast cancer is the most common cancer in women worldwide. Many studies have been performed worldwide to assess the effectiveness of screening in terms of reduced mortality due to breast cancer. Since the end of 1989, 10 breast cancer mass screening programs using mammography have been carried out in France under the sponsorship of the National Fund for Health Prevention, Education, and Information (FNPEIS) from the National Health Insurance of Salaried Workers (CNAMTS). These 10 campaigns, which are on a district scale, are organized according to variable methods and are assessed using a common procedure. Four groups of criteria are measured in this procedure, which investigates the impact, quality, effectiveness, and costs of screening programs. The average and extreme values of each criterion as calculated from the campaigns are presented in this paper. In order to enlighten the judgment on the French results, a comparison with the international standards in force and with the results of foreign screening programs is proposed.