Evaluation of human epidermal growth factor receptor 2 (HER2) single nucleotide polymorphisms (SNPs) in normal and breast tumor tissues and their link with breast cancer prognostic factors

Amplification of the human epidermal growth factor receptor 2 (HER2) gene is associated with worse prognosis and decreased overall survival in breast cancer patients. The HER2 gene contains several polymorphisms; two of the best-characterized HER2 polymorphisms are Ile655Val and Ala1170Pro. The aim of this study was to evaluate the association between these two HER2 polymorphisms in normal breast and breast cancer tissues and known breast cancer prognostic factors in a retrospective cohort study of 73 women with non-metastatic HER2-positive breast cancer. HER2 polymorphisms were assessed in breast cancer tissue and normal breast tissue using TaqMan assay. Ala1170Pro polymorphism in normal breast tissue was associated with age at diagnosis (p = 0.007), tumor size (p = 0.004) and lymphovascular invasion (p = 0.06). Similar significant associations in cancer tissues were observed. No association between the Ile655Val polymorphism and prognostic factors were observed. However, we found significant differences in the distribution of Ile655Val (p = 0.03) and Ala1170Pro (p = 0.01) genotypes between normal breast and breast tumor tissues. This study demonstrates that only the Ala1170Pro polymorphism is associated with prognostic factors in HER2-positive breast cancer patients. Moreover, our results suggest that both HER2 polymorphisms could play a significant role in carcinogenesis in non-metastatic HER2-positive breast cancer women.     

Guide des procédures de radiothérapie externe et de curiethérapie : présentation de la 2e édition

In 2007, a first edition was published with the objective to produce guidelines for optimization, harmonization and homogenization of practices in external radiation therapy in France. The second edition, including brachytherapy, has the same objective and takes into account recent technologic improvements (intensity modulation radiation therapy, stereotactic radiotherapy, and 3-dimension brachytherapy) and recent results of the literature. The first part is about daily use of general principles (quality, security, image-guided radiation therapy) and the second is to describe each step of treatment of main cancers.     

调强放疗的肿瘤患者营养状况与生活质量相关性分析

目的探讨食管肿瘤与头颈部肿瘤患者在调强放疗期间营养状况和生活质量的相关性。方法选取2018年11月至2019年5月肿瘤放疗患者进行研究，采用NRS 2002和PG-SGA对患者进行营养评估，运用EORTC QLQ-C30进行生活质量测评，并分析两者之间相关性。结果41例患者中食管肿瘤23例，头颈部肿瘤18例，放疗后体重丢失35例，占85.36%，其中丢失≥5%体重患者19例，占46.34%，体重丢失>10%患者2例，占4.88%，平均丢失体重3.6kg。41例患者中合并骨髓抑制31例、低蛋白血症15例，电解质紊乱24例。放疗后，41例患者在总健康水平及功能方面得分均低于放疗前（P<0.05），症状方面如疼痛、疲倦、食欲丧失等得分均高于放疗前（P<0.05）。总健康水平、躯体功能、疼痛和食欲丧失等方面与营养状况存在明显相关性（P<0.05）；而社会功能、情绪功能、气促和便秘与营养状况无明显相关性（P>0.05）。结论肿瘤患者在放疗期间的营养状况和生活质量存在相关性，应重视肿瘤放疗患者的营养评估及干预，改善患者躯体功能、疼痛、食欲等方面的生活质量，从而提高放疗效果。     

局部晚期非小细胞肺癌放疗剂量提升研究进展

局部晚期非小细胞肺癌的RTOG0617研究显示进一步提高放疗剂量并没有带来生存获益,这促进了剂量提升策略的改变。目前多项研究通¹⁸FDG高摄取区域局部加量、同步加量调强放疗、改变剂量分割模式等探索更为有效的剂量提升手段,并取得一系列进展。PET-CT技术及调强放疗技术的广泛应用,为放疗剂量优化和提升提供了广阔空间。     

杜氏肌营养不良疾病模型及基因治疗研究进展

杜氏肌营养不良（DMD）是一种X连锁隐性致死性遗传病，通常由基因突变致病，其发病机制复杂多样。该病的致病基因是人类最大的基因，位于Xp21.2区，编码抗肌萎缩蛋白。目前，DMD患者尚无有效的治疗方案。DMD的基因突变及分子机制研究可为其治疗研究打下基础，而后者的进行又需建立在DMD疾病模型之上，如mdx小鼠模型等。随着研究的深入，DMD基因治疗策略不断提出，并在动物模型上取得了不错的效果。除此之外，诱导多能干细胞技术可提供患者特异的细胞来源，为DMD发病机制及治疗研究提供新的平台。     

Testing for Hereditary Predisposition in Patients with Gynecologic Cancers,Quo Vadis?

Genetic testing for a hereditary predisposition to gynecologic cancers has been available clinically since the 1990s. Since then, knowledge of the hereditary contribution to gynecologic cancers has dramatically increased, especially with respect to ovarian cancer. Although knowledge of the number of gynecologic cancer–predisposing genes has increased, the integration of genetic predisposition testing into routine clinical practice has been much slower. This article summarizes the technical and practical aspects of genetic testing in gynecologic cancers, the potential barriers to more widespread access and practice of genetic testing for hereditary predisposition to gynecologic cancers, and the potential solutions to these barriers.