Colorectal cancer is an important health problem, being the third most frequent cancer pathology both in men and women. Programmes have been developed to decrease CRC incidence and mortality, including primary prevention strategies focusing on population education regarding diet and physical activity and secondary prevention programmes such as screening. Modifiable risk factors are known to be diet, obesity, smoking, alcohol and read meat consumption. Non-modifiable risk factors are age, inflammatory bowel disease, genetic syndromes and family history of colorectal cancer.
Background: A germline mutation of the MisMatch Repairgene that causes a malfunctioning DNA system is the defining feature of the hereditary illness known as Lynch syndrome. This review will discuss the endocrine aspects of LS and highlight current advancements in the area. Methods: We searched the available literature of the last 10 years for terms such as endocrine tumors and LS. Our goal is to provide a summary of the most recent information available on the endocrine perspective in Lynch syndrome. Results: The hormonal chemoprevention methods cited are the use of combined oral contraceptives, the use of progestogen-releasing intrauterine devices, and the use of progesterone-only drugs. In addition, after surgical exclusion of the uterus and ovaries, a method frequently adopted for LS patients, it is necessary to start hormonal menopausal therapy, taking into account certain age-specific features. In addition, numerous LS-associated endocrine tumor types have been described. Conclusions: Many hormonal variants are available that are useful in the chemoprevention involved in the treatment of LS. Menopausal hormone therapy is imperative for LS patients who need it. Clinicians need to be aware of the possible association of certain types of aggressive endocrine cancers associated with LS.
Lynch syndrome (LS) is one of the most common inherited cancer predisposition syndromes and the most important cause of hereditary colorectal and endometrial cancers. It is inherited in an autosomal dominant pattern, caused by a pathogenic germline variant in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2), which encode proteins responsible for maintaining genome stability. A defective MMR system confers an elevated risk of developing certain types of cancer, at a younger age than in the general population and at a high rate of multiple primary neoplasia. Lynch syndrome is not just one disease, but a collection of different subtypes of underlying molecular aspects with specific clinical implications. A better understanding of these subgroup profiles could offer better care for each patient, leading to more personalized risk-reduction and surveillance strategies. Lynch syndrome is a frequent but yet underdiagnosed condition that needs multidisciplinary increased awareness for correct diagnosis and management. The aim of this review is to provide a summary of available literature data on the genetic aspects of Lynch syndrome together with geno-type-phenotype correlations and its clinical implications in the detection, genetic counseling, genetic testing, risk stratification, and management of this condition.
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.
Colorectal cancer is one of the main causes of death by cancer in the European Union and in Romania. Lynch Syndrome is an autosomal dominant inherited disease that affects around 3% of all colorectal cancer patients, defined by mutations in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2). Aside from the high risk for colorectal cancer (CRC), they exhibit a high risk for endometrial cancer, ovarian cancer, gastric cancer, pancreatic cancer, brain cancer, small bowel cancer, and sebaceous gland cancer. Diagnosis is often made by the gastroenterologist, usually when he meets a young patient with symptoms suggesting the presence of a colonic tumor and a family history of CRC. The role of the gastroenterologist is to investigate the best practices in order to have an early diagnosis and to prevent interval cancers according to the newest guidelines or other gastrointestinal tract tumors associated with Lynch Syndrome. Registries play an important role in the optimal surveillance of these particular categories of patients and should be put into place in every country. They will allow clinicians to have a better understanding of the disease and a more standardized quality of care for them.
The purpose of this article is to investigate the role of emotional regulation (ER) as a process underlying a variety of symptoms associated with Lynch syndrome (depression, anxiety, fear of cancer recurrence (FCR), insomnia, fatigue, pain, and subjective cognitive difficulties in patients with Lynch syndrome. Firstly, we provided an overview of the main psychopathological symptoms found in cancer patients and their impact, and then an overview of emotional regulation strategies and discussed the main impact ER strategies have on cancer patients, especially emotional suppression and experiential avoidance, as found in evidence-based studies. Recent research has shown that two ER strategies generally considered maladaptive, emotional suppression and experiential avoidance were significantly associated with higher levels of anxiety, depression, FCR, fatigue, and cognitive difficulties. We propose that experiential avoidance and emotional suppression may be common transdiagnostic mechanisms for a common set of psychological symptoms in Lynch syndrome patients, a hypothesis to be tested in a future study.
Chemotherapy is an important treatment in oncological disease, with a vast number of side effects. The cardiotoxicity of several chemotherapeutic agents and appropriate risk stratification and patient follow-up must be ensured by a multidisciplinary team which must include an oncologist and a cardiologist. Lynch syndrome is associated with younger-onset malignant tumors of various localizations, requiring aggressive chemotherapy. FOLFOX chemotherapy which is frequently used in Lynch syndrome-associated colorectal cancer has several cardiotoxic effects with mechanisms ranging from increased reactive oxidative species to Krebs cycle blockade or coronary vasospasm. These complex effects on the cardiovascular system have varied clinical effects, such as heart failure, arrhythmias, or acute ischemic events.
