Multiple endocrine neoplasias (MEN) represent a rare and intricate group of disorders with diverse endocrine and extra- endocrine manifestations. Among the five identified types of MEN syndromes, MEN 2 stands out due to its complexity, featuring medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism (PHPT). MEN 2 is inherited in an autosomal dominant manner, with nearly a 100% lifetime risk of developing MTC, which can be fatal if not detected early. Comprehensive diagnostic protocols and timely interventions significantly mitigate morbidity. To guide surgical decisions, management strategies include regular imaging and biomarker monitoring (calcitonin, CEA, metanephrines/normetanephrines, and parathyroid hormone). Genetic screening of at-risk families and prophylactic thyroidectomy remain cornerstone preventive measures. Although tyrosine kinase inhibitors are generally reserved for specific cases of MTC and are not first-line therapies for MEN2-associated tumors, they hold the potential for mitigating tumor progression and recurrence despite the risk of endocrine dysfunction. This paper presents a narrative review focusing on multiple endocrine neoplasia type 2 (MEN2) syndrome, encompassing its genetic underpinnings, clinical presentations, diagnostic modalities, and therapeutic approaches. A total of 48 articles were included in this review.
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.
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.
Background: Pheochromocytomas (Pheo) are rare neuroendocrine tumors with a suggestive clinical picture, characterized by hypersecretion of catecholamines and other neuroendocrine biomarkers. Methods: The purpose of the study was to analyze the diagnostic features of Pheo and investigate the role played by different neuroendocrine and hormonal markers in diagnosing Pheo.The retrospective study involved a group of 69 patients diagnosed and treated with Pheo, who had both urinary and plasma catecholamines and neuroendocrine markers measured pre- and postoperatively. Results: After comparing pre- and postoperative hormonal parameters and neuroendocrine biomarker changes, numerous statistically significant findings were found. The analysis of the relationships between chromogranin A (CgA) levels, plasma and urine metanephrines, and normetanephrine and Pheo tumor size was included in the study. Additionally, we evaluated Cg A's diagnostic efficacy in comparison to plasma metanephrines, normetanephrine, and neuron-specific enolase (NSE) for Pheo. Conclusions: We obtained statistically significant data on pre- and postoperative differences for plasma and urinary catecholamines, CgA and NSE. Pheo tumor size is interdependent with serum levels of Cg A, plasma and urinary metanephrines, and normetanephrine. The best diagnostic power for Pheo was plasma normetanephrine, followed by plasma metanephrines and CgA.
Pheochromocytomas are rare neuroendocrine tumors that frequently have genetic involvement and can present a particular risk in terms of the anesthetic-surgical procedure. Current worldwide medical recommendations state that laparoscopic adrenalectomy is the conventional treatment for pheochromocytoma, however, the ideal surgical strategy is still being developed as specialized surgeons gain experience with these rare tumors. The study's purpose was to thoroughly evaluate our film library and identify the best surgical steps that represent our standardized procedure. We developed a comprehensive set of surgical critical strategies for either a left or right adrenalectomy, providing helpful advice on patient positioning, port placement, the adrenal gland approach, as well as other surgical methods specifically designed for tumor mobilization and dissection. The current paper aims to synthesize our clinical experience in terms of preoperative preparation, patient positioning, intraoperative complications, causes of conversion, and specimen extraction. The main conclusions concern both the best surgical approach and the importance of surgical experience in the clinical management of these rare tumor types.
