Genotype-based prognosis prediction for MEN1-Related pancreatic neuroendocrine tumors in Korean patients a single-center retrospective study.

Background: Pancreatic neuroendocrine tumors (PNETs) are the leading cause of death related to multiple endocrine neoplasia type 1 (MEN1). Previous studies have linked certain mutations in the MEN1 gene and loss of interactions with MENIN's functional partners to the mortality or aggressiveness of PNETs. This study aimed to evaluate the genotype-phenotype correlations of MEN1-related PNETs in Korean patients and to summarize the treatment outcomes comprehensively.

Extra-adrenal adrenocortical cancer associated with multiple endocrine neoplasia type 1.

Summary: Adrenocortical carcinoma (ACC) is a rare malignant tumour arising from the adrenal cortex, with an estimated annual incidence of one to two patients per million. Ectopic ACCs are extremely rare. The majority of ACCs are sporadic; however, ACC has been linked with genetic disease processes, including multiple endocrine neoplasia type-1 (MEN-1).

Targeting Menin in Acute Myeloid Leukemia: Therapeutic Advances and Future Directions.

Germline mutations in the gene encoding menin protein cause multiple endocrine neoplasia type 1 (MEN1) syndrome. Recent evidence suggests that inhibiting the interaction of menin with its crucial oncogenic protein partners represents a promising therapeutic strategy to AML. Menin plays a critical role in lysine methyltransferase 2A ()-gene-rearranged and -m acute leukemias, both associated with adverse outcomes with current standard therapies, especially in the relapsed/refractory setting.

Screening and surveillance practices for Multiple Endocrine Neoplasia type 1-related Neuroendocrine Tumours in European Neuroendocrine Tumor Society Centers of Excellence (ENETS CoE)-An ENETS MEN1 task force questionnaire study.

Multiple Endocrine Neoplasia type 1 (MEN1) Clinical Practice Guidelines (2012) are predominantly based on expert opinion due to limited available evidence at the time, leaving room for interpretation and variation in practices. Evidence on the natural course of MEN1-related neuroendocrine tumours (NET) and the value of screening programs has increased and new imaging techniques have emerged. The aim of this study is to provide insight in the current practices of screening and surveillance for MEN1-related NETs in ENETS Centers of Excellence (CoEs).

Paradoxical cerebral embolism caused by patent foramen ovale in a patient with multiple endocrine neoplasia type 1 and severe primary hyperparathyroidism.

A man in his late 30s with gait difficulty, dysarthria, impaired consciousness and polyuria was diagnosed with left thalamic infarction. Hypercalcaemia (3.52 mmol/L (2.

Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin.

Despite advancements in the field, early diagnosis of multiple endocrine neoplasia type 1 (MEN1) remains unachievable. This letter to the editor highlighted the importance of carefully assessing gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin levels, as suggested by Yuan in their paper. They focused on a patient with recurrent abdominal pain and diarrhea whose diagnostic path led to establishing a MEN1 diagnosis within a year.

Bone mineral density over ten years after primary parathyroidectomy in multiple endocrine neoplasia type 1.

Primary hyperparathyroidism (PHPT) associated with multiple endocrine neoplasia type 1 (MEN1) impairs bone mineral density and causes osteoporosis already in young patients. We aimed to investigate bone mineral density (BMD) in a contemporary cohort of patients with MEN1-related PHPT after long-term follow-up and compare these results with that of healthy controls. Thirty-five patients with genetically confirmed MEN1 were diagnosed with MEN1 at mean age 28.

Adrenocortical tumors and hereditary syndromes.

Introduction: Adrenocortical tumors (ACTs) are frequently encountered in clinical practice. They vary in clinical and biological characteristics from nonfunctional to life threatening hormone excess, from benign to highly aggressive malignant tumors. Most ACTs appear to be benign and nonfunctioning.

Prognosis after curative resection of non-metastatic pancreatic neuroendocrine tumors: a retrospective tertiary center study.

Background: Pancreatic neuroendocrine tumors (pNETs) are rare tumors with heterogeneous outcomes. The aim of our study was to determine the long-term outcome, recurrence patterns, as well as the clinical and pathological factors that impact time-to-recurrence (TTR), recurrence-free survival (RFS), and overall survival (OS) in pNETs treated with curative surgery.

Methods: Data for all patients who underwent radical surgery with curative intent for non-metastatic pNETs were obtained from a prospectively maintained database of the University Hospitals Leuven.

Molecular Pathophysiology of Parathyroid Tumorigenesis-The Lesson from a Rare Disease: The "MEN1 Model".

Primary hyperparathyroidism represents the third most prevalent endocrine disease in the general population, consisting of an excessive secretion of parathyroid hormone from one or, more frequently, more of the parathyroid glands, leading to a dysregulation of calcium homeostasis. Schematically, its development occurs primarily by pathophysiological events with genetic mutation, at the germline and/or somatic level, that favor the neoplastic transformation of parathyroid cells and promote their aberrant proliferation, and mutations determining the shift in the PTH "set-point", thus interfering with the normal pathways of PTH secretion and leading to a "resetting" of Ca-dependent PTH secretion or to a secretion of PTH insensitive to changes in extracellular Ca levels. Familial syndromic and non-syndromic forms of primary hyperparathyroidism are responsible for approximately 2-5% of primary hyperparathyroidism cases and most of them are inherited forms.

Analysis of Bone Phenotype Differences in MEN1-Related and Sporadic Primary Hyperparathyroidism Using 3D-DXA.

The rarity and variability of MEN1-related primary hyperparathyroidism (mPHPT) has led to contradictory data regarding the bone phenotype in this patient population. A single-center retrospective study was conducted among young age- and sex-matched patients with mPHPT and sporadic hyperparathyroidism (sPHPT). The main parameters of calcium-phosphorus metabolism, bone remodeling markers, and bone mineral density (BMD) measurements were obtained during the active phase of hyperparathyroidism before parathyroidectomy (PTE) and 1 year after.

Neuroendocrine Tumors and Survival Rates in Multiple Endocrine Neoplasia Type 1 Patients: Impact of Gender Difference.

Introduction: Multiple endocrine neoplasia type 1 (MEN-1) is the most common inherited syndrome associated with NET development and gender-specific differences are emerging in neuroendocrine tumors (NETs). This study aimed to analyze gender difference in a single cohort of MEN-1 patients focusing on duodeno-pancreatic (DP)-NET and survival rates.

Methods: MEN-1 patients referred to the Endocrinology Unit of the "Federico II" University of Naples, ENETS CoE, were retrospectively evaluated.