Molecular profiling in breast cancer —ready for clinical routine?
SummaryThe herald of genomic testing opened novel diagnostic and therapeutic possibilities for many tumor entities. For breast cancer, molecular profiling has become an integral part of disease management on multiple levels. Genetic testing allows for the identification of hereditary cancer syndromes in patients with a family history of malignancies and contributes to the successful prevention of breast cancer. In early breast cancer, several prospective randomized trials demonstrated the prognostic significance of commercially available mRNA-based gene expression analyses, which now have become part of standard of care in the adjuvant setting. In advanced breast cancer, testing for targetable mutations ensures personalized cancer treatment. Poly-ADP-ribose polymerase (PARP) inhibitors provide the first targeted alternative for patients withBRCA 1/2-associated breast cancer. In advanced breast cancer of luminal type, the detection of Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha (PIK3CA) mutations provides a novel treatment option with alpelisib, a PIK3CA inhibitor. Further targetable mutations includeNTRK3 in rare cases of secretory breast carcinoma and human epidermal growth factor receptor 2 (HER2). Recent data support the importance of the analysis of circulating tumor cells and cell-free DNA. These “liquid biopsies” open novel possibilities of molecular profiling. However, clinical benefit of such analyses remai...
Abstract PURPOSE: To evaluate our long-term experience on one-day breast intraoperative radiotherapy (IORT) given as sole radiation treatment to selected patients with breast cancer. METHODS AND MATERIALS: Inclusion criteria of INTRAOBS study (prospective observational study) were: ER+ T1N0 unifocal ductal carcinoma; absence of lymphovascular invasion or of extensive intraductal component (Scarff-Bloom-Richardson grade III and HER2+++ excluded). Two different linacs were used (20Gy/1 fraction): one dedicated electron linac (
CONCLUSIONS: MBC has increasing incidence. PR-negative status was associated with better overall survival and disease-free interval. Indications to radiotherapy and hormonal therapy need standardization and will benefit from prospective randomized control trials. PMID: 32147980 [PubMed - in process]
Authors: Zouine S, Marnissi F, Otmani N, Bennani Othmani M, Zaid N, Kojok K, Zaid Y, Tahiri Jouti N, Habti N Abstract Purpose: Aberrant glycosylation of the histo-blood group antigens (including the angina bullosa haemorrhagica [ABH]) is often observed during malignant transformation in most types of carcinomas. Data concerning their ethnic distributions are diverse which explains why their biological characteristics have to be studied in different populations. Our aim was to analyze the expression of the histo-blood group (specifically the ABH) antigens in breast carcinoma. Methods: The expression of the histo...
ConclusionExperience gained during the qualitative pilot phase was essential to overcome challenges associated with the translation of sophisticated genetic terms into native African languages. Detection of a pathogenic BRCA2 variant in a patient with familial breast cancer, frequently associated with hormone receptor-positive breast carcinoma as reported in this case, led to a high level of confidence on which to base risk management in future. Implementation of new technologies alongside standard pathology provides a practical approach to the application of genomic medicine in Africa.
Minichromosome Maintenance Protein 2 (MCM2) is critical in initiating DNA replication during the cell division process. As expressed intensively in all phases of the active cell cycle, MCM2 has been proposed as a novel biomarker to determine cellular proliferation. We aimed at clarifying the prevalence and clinical significance of MCM2 in HER2-amplified breast cancer subtype. MCM2 expression was studied in 142 primary HER2-amplified breast carcinomas by applying a novel fluoro-chromogenic immunohistochemistry and tailored digital image analysis to determine labelling index (MCM2-LI). The presence of MCM2 was detected with ...
Conclusions: This novel technique is a reliable option for performing multiple HER2 FISH tests simultaneously in clinical and research-oriented settings with less tissue damage compared with conventional tissue microarray techniques.
CONCLUSIONS: MBC requires more attention in terms of diagnosis and treatment as clinicians tend to follow the guidelines that have been developed for female BC management. PMID: 32114665 [PubMed - as supplied by publisher]
Publication date: Available online 26 February 2020Source: Seminars in Cancer BiologyAuthor(s): Caterina Marchiò, Laura Annaratone, Ana Marques, Laura Casorzo, Enrico Berrino, Anna Sapino
In conclusion, radiomic features enable to discriminate major breast cancer molecular subtypes and may yield a potential imaging biomarker for advancing precision medicine.