No abstract

Abstract:INTRODUCTION: The Li-Fraumeni Syndrome (LFS) is caused by a germline TP53 mutation and is associated with a high risk of breast cancer at young ages. Basal (triple negative) breast cancers are now well recognized to be a typical sub-type of breast cancer developing in a large proportion of BRCA1 gene carriers. We considered whether a similar narrow sub-type of breast cancer was found in TP53 gene mutation carriers. OBJECTIVE: A hypothesis generating study to investigate whether there are specific breast tumour characteristics associated with germline TP53 mutations. METHODS: Pathological characteristics in 12 breast cancers arising in 9 patients carrying pathogenic TP53 mutations were compared to a reference panel of 231 young onset breast tumours included in the POSH study. RESULTS: Patients carrying a TP53 mutation showed a significantly higher likelihood of developing a breast cancer with Human Epidermal growth factor Receptor (HER2) amplification (83%) when compared to the cohort of young onset breast cancer cases (16%), ER and PR status were equivalent between groups. CONCLUSION: These findings suggest that breast cancer developing on a background of an inherited TP53 mutation is highly likely to present with amplification of HER2.

Study Design: Narrative review. Objective: To summarize relevant studies regarding the utilization of intraoperative neurophysiological monitoring (IONM) techniques in spine surgery implemented in recent years. Methods: A literature search of the Medline database was performed. Relevant studies from all evidence levels have been included. Titles, abstracts, and reference lists of key articles were included. Results: Multimodal intraoperative neurophysiological monitoring (MIONM) has the advantage of compensating for the limitations of each individual technique and seems to be effective and accurate for detecting perioperative neurological injury during spine surgery. Conclusion: Although there are no prospective studies validating the efficacy of IONM, there is a growing body of evidence supporting its use during spinal surgery. However, the lack of validated protocols to manage intraoperative alerts highlights a critical knowledge gap. Future investigation should focus on developing treatment methodology, validating practice protocols, and synthesizing clinical guidelines.