Next‐generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction

Abstract

The diagnosis, histomolecular classes of breast cancers (luminal A, luminal B, HER2‐enriched, and basal‐like), and accurate prediction of prognosis are commonly determined using morphological and phenotypical analyses in clinical practice worldwide. Therapeutic strategies are mostly based on the disease stage and molecular subclasses of breast cancer. Targeted therapies, such as anti‐HER2s, poly‐ADP ribose polymerase inhibitors or, to a lesser extent, phosphatidylinositol 3 kinase inhibitors, have substantially improved breast cancer patient prognosis over the past decades. Human epidermal growth factor receptor 2 (HER2) overexpression is widely determined based on immunohistochemistry, while next‐generation sequencing (NGS) is currently employed to assess the presence of molecular alterations, including breast cancer gene 1 (BRCA1) and 2 or phosphatidylinositol‐4,5‐bisphosphate 3‐kinase catalytic subunit alpha (PIK3CA) mutations, which are targets of these new approved therapies. In addition, next‐generation sequencing (NGS) can aid the pathologist in challenging situations, such as a diagnostic workup for a metastatic carcinoma in lymph nodes of unknown origin, differential diagnosis of spindle cell tumourtumor in the breast between metaplastic carcinoma, malignant PT and sarcoma, o, as well as determining relatedness between primary breast cancers and recurrences. NGS offers a powerful tool that enables the pathologist to combine morphological analyses together with molecular alterations in challenging diagnostic situations.

A Review on Breast Cancer: A Global Risk Factor and Preventive Measures

“…As a result of the genetic, transcriptomic, protein expression, and epigenetic information obtained from a significant number of breast cancer patients, databases such as The Cancer Genome Atlas, Gene Expression Omnibus, and Molecular Taxonomy of Breast Cancer International Consortium provide substantial amounts of information. Additionally, these databases contain clinicopathological characteristics of breast cancer patients, which can be used for meta-analysis [55].…”

Annual Review Issue: Breast Pathology

“…Massive parallel sequencing or next‐generation sequencing (NGS), which is approaching 2 decades since its use in breast pathology, is integral to the discussion on molecular pathology. Professor Anne Salomon and her colleagues 6 review NGS and its impact on routine practice since its introduction. They inform that NGS is currently employed to assess the presence of key molecular alterations, which are targets of some new approved therapies.…”

Comparative Analysis of Clinical and Molecular Characteristics in Invasive Ductal Carcinoma of the Breast

“…These approaches have numerous bene ts including their relative simplicity of use, quickness, sensitivity, and accuracy (Zoppoli et al, 2017). Currently, next-generation sequencing (NGS) has been applied to discover molecular variations such as polymorphisms in breast cancer genes (BRCA1/A2) and phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), that serve as targets for new authorized medicines (Aje et al, 2023;Nourieh et al, 2023;G. Yang et al, 2015).…”

“…al., 2020;Nourieh et al, 2023) In our study, we analyzed 160 cases of invasive ductal carcinoma of the breast to gain insights into the distribution of age, hormone receptor status, HER2 expression, and genetic variations.The age distribution of breast cancer patients revealed that most cases occurred between the ages of 41 and 60, with the highest percentage observed in the 41-50 age group. This nding aligns with previous studies that have reported an increased incidence of breast cancer in middle-aged women.…”