[Locally-advanced cervix cancer : multidisciplinary management]. / Cancer du col utérin localement avancé : approche multidisciplinaire.

Cervical cancer is the fourth most common cancer in women and is linked in over 95 % of cases to papillomavirus infection, the incidence of which has fallen in recent years due to screening and vaccination. Almost half of these cancers are diagnosed at a locally advanced stage with an overall 5-year survival of around 65 %. In recent decades, the management strategy of these locally advanced cancers has changed considerably and has allowed the improvement of survival but above all of local control as well as the reduction of toxicity, due to the implementation of imaging. Standard treatment consists of external beam radiation therapy combined with concomitant chemotherapy followed by intrauterine brachytherapy. The role of neo-adjuvant and adjuvant chemotherapy is still being evaluated. New therapeutic approaches (particularly immunotherapy) in addition to standard treatment are also being studied.

Le cancer du col de l'utérus est le quatrième cancer le plus fréquent chez la femme et est lié, dans sup�rieur a 95 % des cas, à une infection par le papillomavirus, dont l'incidence a chuté ces dernières années grâce au dépistage et à la vaccination. Près de la moitié de ces cancers sont diagnostiqués à un stade localement avancé avec une survie globale à 5 ans de l'ordre de 65 %. Ces dernières décennies, la stratégie de prise en charge de ces cancers localement avancés a considérablement changé. Elle a permis l'amélioration de la survie, mais surtout du contrôle local, ainsi que la réduction de la toxicité, grâce notamment à l'implémentation de l'imagerie. Le traitement standard consiste en une radiothérapie externe associée à une chimiothérapie concomitante, suivie d'une curiethérapie intra-utérine. La place de la chimiothérapie néo-adjuvante et adjuvante est toujours en cours d'évaluation. De nouvelles approches thérapeutiques (immunothérapie), en complément du traitement standard, sont aussi à l'étude.

Curative effect of second curettage for treatment of gestational trophoblastic disease - Results of the Belgian registry for gestational trophoblastic disease.

OBJECTIVE: We assessed the curative effect of a second curettage in patients with persistent hCG serum levels after first curettage for a gestational trophoblastic disease (GTD). STUDY DESIGN: This prospective observational study used the data of the Belgian register for GTD between July 2012 and January 2017. We analysed the data of patients who underwent a second curettage. We included 313 patients in the database. Primary endpoints were need for second curettage and chemotherapy. RESULTS: Thirty-seven patients of the study population (12 %) underwent a second curettage. 20 had persistent human chorionic gonadotropin hormone (hCG) elevation before second curettage. Of them, 9 patients (45 %) needed no further treatment afterwards. Eleven patients (55 %) needed further chemotherapy. Nine (82 %) were cured with single-agent chemotherapy and 2 patients (18 %) needed multi-agent chemotherapy. Of the 37 patients, patients with hCG levels below 5000 IU/L undergoing a second curettage were cured without chemotherapy in 65 % versus 45 % of patients with hCG level more than 5000 IU/L. Of the ten patients with a hCG level below 1000 IU/L, eight were cured without chemotherapy. CONCLUSIONS: Patients with post-mole gestational trophoblastic neoplasia can benefit from a second curettage to avoid chemotherapy, especially when the hCG level is lower than 5000 IU/L.

[Pseudotumoral pelvic actinomycosis : one should think of it]. / Le cas clinique du mois - Actinomycose pelvienne pseudo-tumorale : il fallait y penser.

Actinomycosis is a rare chronic disease caused by a group of anaerobic Gram positive bacteria. It may mimic a neoplasia at various anatomical levels. A pelvic localization is exceptional but has an increasing incidence since the use of intrauterine devices. In such cases, pelvic actinomycosis may present as a gynecological or a lower colonic malignancy. For all atypical clinical, with a prominent infectious or inflammatory context, the diagnosis of actinomycosis must be suggested and discussed with the pathologist to whom the biopsy will be submitted. In the absence of a preoperative diagnosis, an inadequately aggressive pelvic surgery might be performed and rendered particularly complex due to the adherent and diffusely inflammatory pattern of the disease. The treatment of choice remains a long-term therapy with antibiotics that leads to a complete clinical and radiological response in the majority of cases. We report the case of a 27-year-old woman with a clinical and radiological diagnosis of rectal carcinoma but with limited preoperative biopsy that revealed a pelvic actinomycosis and allowed a conservative and successful antibacterial treatment.

L'actinomycose est une pathologie bactérienne rare pouvant prendre un aspect pseudo-tumoral. La localisation pelvienne est exceptionnelle, mais d'incidence croissante depuis l'utilisation des dispositifs intra-utérins. La présentation peut alors évoquer une néoplasie gynécologique ou colique basse. Devant tout tableau clinique atypique suggérant une malignité pelvienne mais dominé par un contexte infectieux et/ou inflammatoire, le diagnostic d'actinomycose doit être évoqué et discuté avec le collègue anatomo-athologiste auquel les prélèvements histologiques seront soumis. En l'absence de diagnostic pré-opératoire, une chirurgie radicale peut être pratiquée de manière inadéquate et se révéler particulièrement délabrante en raison du caractère adhérent et diffusément inflammatoire de la lésion. Le traitement de choix est une antibiothérapie au long cours amenant à une résolution clinique et radiologique complète dans la majorité des cas. Nous rapportons le cas d'une patiente de 27 ans chez laquelle un diagnostic de néoplasie rectale primitive est suggéré cliniquement et radiologiquement, mais chez qui les biopsies pré-opératoires limitées ont permis un diagnostic d'actinomycose pelvienne et un traitement conservateur.

Diagnostic pitfall in antenatal manifestations of CPT II deficiency.

Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting muscle and liver, a small subset of patients presents antenatal malformations including brain dysgenesis and neuronal migration defects. Here, we report recurrence of severe cerebral dysgenesis with Dandy-Walker malformation in three successive pregnancies and review previously reported antenatal cases. Interestingly, we also report that acylcarnitines profile, tested retrospectively on the amniotic fluid of last pregnancy, was not sensitive enough to allow reliable prenatal diagnosis of CPT2 deficiency. Finally, because fetuses affected by severe cerebral malformations are frequently aborted, CPT2 deficiency may be underestimated and fatty acid oxidation disorders should be considered when faced with a fetus with Dandy-Walker anomaly or another brain dysgenesis.

[Belgian register and reference centers for gestational trophoblastic diseases]. / REGISTRE BELGE ET CENTRES DE RÉFÉRENCE POUR LES MALADIES TROPHOBLASTIQUES GESTATIONNELLES.

Gestational trophoblastic diseases include placental pathologies comprising fertilization abnormalities (hydatidiform moles) and malignant lesions (choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor). Due to their low incidence and heterogeneity, their diagnosis, management and treatment are not always optimal. Following the example of other European countries, a national registration system with two reference centers has been set up to guide physicians and patients and to propose individualized management. The centers offer their expertise through a systematic centralised pathology review by a panel of experts. HCG values are plotted in regression curves. In case of gestational trophoblastic neoplasia, an imaging work-up is proposed, from which the FIGO score and stage are derived and will guide the choice of treatment. Belgian centers offer a multidisciplinary approach, in partnership with the referent physician. More information for practitioners and patients is available on a web site: www.mole-chorio-bgog.eu, which also harbours a forum of discussion.

Atypical recurrence of a placental site trophoblastic tumor four years after hysterectomy for benign condition: Case report and review of literature.

•Rare case of PSTT limited to the vagina presenting eight years after last pregnancy and four years after hysterectomy•Differential diagnosis with other vaginal tumors can be challenging but it is critical because behavior and management are different.•Stage-adapted management is proposed and surgery is the mainstay treatment for localized disease.

[Mirror syndrome: a case report in fetal medicine]. / Le syndrome miroir: a propos d'un cas.

Mirror syndrome is a rare entity describing the association of foetal hydrops and maternal symptoms as general oedema and excessive weight gain mimicking preeclampsia. We report the case of a patient who developed symptoms of oedema, weight gain, headache and biological hemodilution associated with foetal hydrops due to a complex congenital heart defect. This symptomatology spontaneously resolved after foetal expulsion. Mirror or Ballantyne's syndrome needs to be identified on time and well differentiated from preeclampsia. Its consequences may involve the maternal and foetal prognosis.

Pancreatic ectopia: a case report.

Pancreas ectopia / Ectopic pancreas (EP) is a rare congenital disease, most typically diagnosed in asymptomatic patients by incidental detection during surgery or at autopsy. It is defined by the presence of pancreatic tissue localized in various places drifting from the foregut or mesentery. It is subject to the same various inflammatory or neoplastic disorders that may affect the orthotopic pancreas, e.g. pancreatitis or pancreatic tumours. Upper GI endosonography is a key examination (tool) in detecting and defining gastroduodenal ectopic pancreas. However its diagnosis remains difficult. The final diagnosis relies on histopathologic analysis of the resected tumor required to confirm the diagnosis. Its treatment is based on patients' condition and symptoms as well as the kind of surgery depending on the location of the ectopic pancreatic tissue.

[Nodular focal hyperplasia in a child]. / Hyperplasie nodulaire focale hépatique chez l'enfant.

We report the case of seven year old girl, suffering from Steinert's disease and developing a nodular focal hyperplasia. The latter was fortuitously discovered on the occasion of an echography performed during the follow up of a post-catheterisation umbiblical vein hematoma. The lesion increased and became symptomatic. Nodular focal hyperplasia is a rare pathology in a child of that age and can be treated differently than in adults.

[Breast cancer: the interest of pathological classification]. / Cancer du sein: importance de la nomenclature anatomo-pathologique.

The breast pathology includes a large array of entities for which macroscopic and microscopic analysis remains fundamental. Tissue and cell morphology allows in most cases the distinction between benign or malignant tumours and therefore provides the clinicians with essential information for the therapeutic strategy. In the Pathology laboratory, immunohistochemistry and molecular biology have improved the specificity of the diagnosis and have introduced new prognostic and predictive markers for tumour management. The last edition of the WHO classification, released in 2003, distinguishes 21 varieties of invasive carcinoma and 2 categories of intraepithelial neoplasia based on the morphology and immunohistochemical profile. Other diseases can affect the breast, although much less frequently, such as Paget's disease of the nipple, phyllode tumours, sarcomas, lymphomas... These diseases will not be reviewed here.

[Ileum intussusception in an adult: a case report]. / Invagination iléo-iléale chez un adulte.

Intussusception in adults is a rare cause of intestinal obstruction and is usually secondary to some lesion in the gastrointestinal tract. We report a case of intestinal obstruction due to ileo-ileal intussusception, an inflammatory fibroid polyp formed the leading edge of the intussusceptum, which is a rare polypoidal lesion of the gastrointestinal tract.

Primary amyloidosis (AL) as a cause of nephrotic syndrome.

AL amyloidosis is a rare systemic disease resulting from tissue accumulation of amyloid fibrils derived from monoclonal immunoglobulin light chains. It can disrupt the tissue architecture and consequently cause organ dysfunction. The prognosis is poor with a median survival of 13 months in untreated patients. By illustrating the case of a patient whose AL amyloidosis was detected after presenting a nephrotic syndrome, the characteristics of the disease are reviewed as well as diagnostic criteria and current available therapeutics.

[Anatomic-clinical confrontation. Large pelvic mass in a young man]. / Confrontation anatomo-clinique. Volumineuse masse pelvienne chez un homme jeune.

The authors report the case of a gastro-intestinal stromal tumor (GIST) with unusual clinico-pathological features, presenting as a large cystic rectal mass in a young man. The differential diagnosis of pelvic masses is discussed. In light of this case, the recent literature related to the pathogenesis, diagnosis and treatment of GIST is reviewed.

A case of hepatic alveolar echinococcosis contracted in Belgium.

We report herein the case of a Belgian 76-year-old woman who developed a hepatic tumour suspected to be a breast cancer metastasis. Radiological imaging and guided biopsies were not contributive. The patient underwent an explorative laparoscopy with frozen sections that did not provide further diagnosis, and an open left bisegmentectomy was performed during the same anaesthesia. Histopathological examination of the hepatic mass showed Echinococcus multilocularis metacestodes, demonstrating alveolar echinococcosis. As our patient denied any travel in foreign countries and has undergone regular abdominal ultrasonographies since her mastectomy, it is highly likely that this alveolar echinococcosis had been contracted in Belgium. If some imported cases may be seldom managed in Belgium, to our knowledge, this case is the first occurrence of alveolar echinococcosis contracted in Belgium. This report, added to the demonstration of E. multilocaris infection of 50% of red foxes in Southern Belgium, and the potential infection of domestic cats and dogs, should attract attention of the medical community on the possible outbreak of endemic alveolar echinococcosis in Belgium, and on the related public health concerns.

[Pulmonary bronchogenic cysts: clinical observation and literature review]. / Les kystes bronchogéniques: observation clinique et revue de la littérature.

Pulmonary bronchogenic cysts are benign lesions that can be suspected from clinical background and imaging. We present the case of a huge subcarinal bronchogenic cyst and review the embryology, physiopathology, surgical indications and techniques of this congenital lesion.

[Clinical case of the month. Constipation and abdominal mass syndrome in a 51-year-old patient]. / Le cas clinique du mois. Constipation et syndrome de masse abdominale chez une patiente de 51 ans.

A 51-year old patient consults for abdominal swelling and persistent constipation. Clinical exploration shows the presence of a left iliac fossa tumor corresponding to a papillary serous adenocarcinoma of the fallopian tube after macroscopic and microscopic examination. The diagnostic and therapeutic problems caused by this rare gynecologic tumor are discussed.

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

Unbalanced submicroscopic subtelomeric chromosomal rearrangements represent a significant cause of unexplained moderate to severe mental retardation with and without phenotypic abnormalities. We investigated 254 patients (102 from Zürich, 152 from Liège) for unbalanced subtelomeric rearrangements by using fluorescence in situ hybridisation with probes mapping to 41 subtelomeric regions. Mental retardation combined with a pattern of dysmorphic features, with or without major malformations, and growth retardation and a normal karyotype by conventional G-banding were the criteria of inclusion. Selection criteria were more restrictive for the Zürich series in terms of clinical and cytogenetic pre-investigation. We found 13 unbalanced rearrangements and two further aberrations, which, following the investigation of other family members, had to be considered as variants without influence on the phenotype. The significant aberrations included three de novo deletions (two of 1pter, one of 5pter), three de novo duplications (8pter, 9pter, Xpter), one de novo deletion 13qter-duplication 4qter, and five familial submicroscopic translocations [(1q;18p), (2q;4p), (2p;7q), (3p;22q), (4q;10q), (12p;22q)], most of them with several unbalanced offspring with deletion-duplication. Although the incidence of abnormal results was higher (10/152) in the Liège versus the Zürich series (3/102), similar selection criteria in Zürich as in Liège would have resulted in an incidence of 7/106 and thus similar figures. In our series, submicroscopic unbalanced rearrangements explain the phenotype in 13/254 study probands. The most important selection criterion seems to be the presence of more than one affected member in a family. An examination of subtelomeric segments should be included in the diagnostic work-up of patients with unexplained mental retardation combined with physical abnormalities, when a careful conventional examination of banded chromosomes has yielded a normal result and a thorough clinical examination does not lead to another classification. The proportion of abnormal findings depends strongly on selection criteria: more stringent selection can eliminate some examinations but necessitates a high workload for experienced clinical geneticists. Once the costs and workload of screening are reduced, less selective approaches might finally be more cost-effective.