[How molecular biology can improve the clinical diagnosis of gliomas?] / Comment la biologie moléculaire améliore le diagnostic clinique des gliomes?

Gliomas are the most common primary brain tumors and include different diagnoses associated with a different prognosis. Histology remains the gold standard for the diagnosis of these tumors. However, pathologists may encounter diagnostic difficulties due to tumor heterogeneity or to the small size of the samples. Recently, major advances in discovery of molecular alterations of these cancers have led to the development of new molecular markers, some with a diagnostic role, others with a prognostic impact and / or predictive of therapeutic response. The testing of different molecular alterations such as 1p / 19q codeletion, mutations of IDH genes, p16 deletion, EGFR amplification or MGMT promoter methylation has been included in the daily practice in order to confirm the diagnosis, assess the patient prognosis and guide treatment choices.

Les gliomes représentent les tumeurs cérébrales primitives les plus fréquentes et regroupent différentes entités au pronostic très différent. L'examen anatomopathologique est le gold standard pour le diagnostic de ces tumeurs. Cependant, les pathologistes peuvent rencontrer des difficultés diagnostiques dues, entre autres, à l'hétérogénéité tumorale ou à la petite taille des prélèvements. Nous avons assisté, ces dernières années, à des avancées majeures dans la découverte des altérations moléculaires de ces cancers, ce qui a mené au développement de nouveaux marqueurs moléculaires, certains avec un rôle diagnostique, d'autres avec un impact pronostique et/ou prédictif de la réponse thérapeutique. Dans la pratique quotidienne, il est donc devenu utile de tester la présence de différentes altérations moléculaires telles que la codélétion 1p/19q, les mutations des gènes IDH, la délétion du gène CDKN2A/p16, l'amplification du gène EGFR ou la méthylation du promoteur du gène MGMT, afin de confirmer le diagnostic, d'évaluer le pronostic des patients ainsi que d'orienter les choix thérapeutiques.

Sudden cardiac death after repair of anomalous origin of left coronary artery from right sinus of Valsalva with an interarterial course : Case report and review of the literature.

Anomalous aortic origin of the coronary artery from the opposite sinus with interarterial course (AAOCA) is a rare condition with a high risk of sudden cardiac death (SCD) during or after strenuous exertion. SCD after repair of this anomaly is extremely rare. Here we present a 15-year-old athlete who collapsed on the basketball court in whom an anomalous origin of the left coronary artery from the right sinus of Valsalva with interarterial course (ALCA) was diagnosed. In spite of extensive pre-sport participation testing, SCD occurred shortly after surgical correction. We reviewed the literature to establish an evidence-based recommendation to aid physicians in conducting the optimal pre-sport participation management for the prevention of SCD in patients with a surgically corrected AAOCA/ALCA, especially for those who participate in strenuous exercise. Review of the literature (60 articles with 325 patients) reveals that post-surgical, pre-sport participation testing varies greatly but that mortality after surgical repair is extremely low (1.5 %). In conclusion, SCD can still rarely occur after repair of AAOCA despite extensive pre-sport participation testing. This should raise awareness among physicians treating these patients and raises the question whether or not return-to-play guidelines need to be revised.

Aortico-right ventricular tunnel: prenatal diagnosis leading to neonatal survival.

In the 36th week of gestation a large aortico-right ventricular tunnel with an otherwise structurally normal heart was diagnosed by fetal echocardiography. This report describes for the first time the impact of the timely prenatal diagnosis of an aortico-right ventricular tunnel followed by successful management in early infancy.