Lynch syndrome, also known as hereditary non-polyposis cancer syndrome, represents the most common autosomal dominant genetic predisposition for the early onset development of several malignancies. Nearly three decades ago, the discovery of microsatellite instability, a distinctive feature of pathogenic variants within genes encoding mismatch repair proteins, marked a significant leap forward in understanding cancer biology and the underlying spectrum of cancers triggered by these mutations – typical of Lynch syndrome. In recent years, a new treatment paradigm, using immune checkpoint inhibitors, as well as preventive measures has drastically improved the survival rates. Identifying individuals with an inherent predisposition to cancer, through diagnostic protocols followed by personalized screening and treatment algorithms, holds the potential to mitigate premature cancer-related fatalities as well as preventable mortality. It is estimated that only a limited number of patients have been diagnosed, underscoring the importance of implementing specific screening programs for early detection of malignancies to which these patients are susceptible. This article aims to underline the importance of a national protocol tailored to guide a Western-inspired practice for Lynch syndrome patient management, the main aim of the Romanian Society for Lynch Syndrome, by providing an overview of similar initiatives throughout the world.
Breast carcinoma represents the leading cause of oncologic mortality for women. Due to therapeutic and diagnostic advances, the mortality and morbidity in the last decade declined, but breast cancer still has a great impact on quality of life and also on medical service cost. In the light of these facts, an integrated approach, considering histopathology features, molecular profiles and corroboration with clinical and imagistic data is necessary. A descriptive retrospective one-year study analyzed the breast cancer heterogeneity in 121 cases registered in the Pathology Department of the University Emergency Hospital in Bucharest, Romania. Our purpose was to evaluate histopathological, immunohistochemically, clinical and imagistic aspects of breast cancer considering the current molecular classification (Luminal A, Luminal B, HER2 enriched and triple negative/basal like). Our assay revealed that most prevalent histotype was NST (no special type) followed by invasive lobular carcinoma. Considering the molecular pattern, the most common was luminal B. Triple negative basal like and HER 2-enriched were correlated with an aggressive morphologic pattern and lymph-nodes positivity. Considering the imagistic acquisitions, mammography proved to be the most accurate technique for measuring the dimension of NST. In conclusion, breast carcinoma is a heterogeneous disease that needs an integrated approach and personalized treatment based on the histopathologic and molecular features. Considering the great number of advanced stages as diagnosis, a national screening program for breast cancer is imperiously needed.
