Résistances à l’hormonothérapie dans le cancer du sein

Résumé: La castration et le tamoxifène ont été pendant des décennies les principaux traitements antihormonaux des patientes atteintes de cancer du sein en situation métastatique et adjuvante. Depuis la possibilité d’utiliser en clinique de nouveaux agents antihormonaux, la connaissance des mécanismes de résistance à ces traitements suscite de plus en plus d’intérêt. Dans cette revue bréve, nous nous attacherons à décrire les principaux mécanismes de résistance permettant d’expliquer les nouvelles stratégies thérapeutiques dans cette population de cancers du sein hormonodépendants.      

Association between KISS1 rs5780218 promoter polymorphism and onset of growth hormone secreting pituitary adenoma

Objectives

This study analyzed the KISS1 c.-145delA (rs5780218) promoter polymorphism in a cohort of patients with growth hormone secreting pituitary adenoma (somatotropinoma) and controls, to investigate its role in the incidence of acromegaly and to assess patient/tumor characteristics.Material and methods rs5780218 allelic and genotypic distributions were compared between 49 somatotropinoma patients and 167 healthy controls. rs5780218 was also assessed in relation to patient characteristics and tumor aggressiveness, as characterized by tumor invasion and resistance to conventional therapy. The relationship between KISS1 mRNA expression and the rs5780218 genotype was also assessed in available pituitary tumor samples.

NGS and blood group systems: State of the art and perspectives

Molecular analysis, or genotyping, of genes involved in the expression of blood group antigens has been a standard strategy used in immunohaematology laboratories routinely. For the past ten years, next-generation sequencing (NGS), or second-generation sequencing, has become the reference method in genetics. Extensive study of distinct targets, large genomic regions, and even whole genome is henceforth possible by this approach at minimal cost. Blood group genotyping has thus taken advantage of this technological advent. A few preliminary studies have open the way to NGS in this field by studying one or several genes, in a wide range of samples (donors and patients) by using several different platforms. These works have helped in the identification of both the benefits and limitations of the technology. Other recently published studies have benefited from these preliminary data to improve the methodology, specificity and accuracy of output data. In parallel novel strategies, i.e. third-generation sequencing, which can sequence long DNA regions at the single-molecule level, have emerged and shown promise for the potential resolution of complex rearrangements involving genes of the Rh and MNS blood group systems respectively. As technological and methodological hurdles have been overcome, these approaches may be used in a clinical situation in a near future.