Analysis Of Clinical Features In Multiple Endocrine Neoplasia Typel And 2A And Explore Gene Mutation In MEN2A Family

ObjectiveWe retrospectively analyzed the clinical characteristics of multiple endocrine neoplasia of type 1 and 2A,and to understand the current status of diagnosis and treatment of MEN-related tumors.To detect the genotype of a MEN2A family,and to investigate the genotype-phenotype correlations of men2AMethodsA total of 18 patients with MEN 1,1 patient with MEN2A whose family members were also selected as our research subjects.According to the medical record query system of our hospital,we collated and summarized the clinical characteristics of MEN1 and MEN2A,Then we analyzed the diagnosis and treatment strategy of 21 patients,which could provide standardized recommendations for clinical diagnosis and treatment.With the informed consent of MEN2A patients and their families,and the approval of our hospital ethics committee,peripheral anticoagulation of these patients were extracted for genetic testing.We summarized the relationship between gene mutation types and clinical phenotypes in MEN2A patients by reviewing the literature results of this study,which could have a deeply understanding of MEN and improve the clinical diagnosis rate.Results1.A total of 18 MEN1 patients were admitted to our hospital.Among them,13 patients(72.2%)had pancreatic neuroendocrine tumor,11 patients(61.1%)had parathyroid adenoma or hyperplasia,8 patients(44.4%)had pituitary tumor,1 case had lower abdominal lipoma,and 1 patient had meningioma.3 of them run genetic testing were diagnosed with MEN2A,and they had pheochromocytoma as well as medullary thyroid cancer,while the last 2 persons had no clinical symptoms.The main treatment for MEN1 and MEN2A were surgery,at the same time with medical treatment2.MEN2A patient and 2 patients of their families who had developed the disease all carried c.1901G>A(p.c634y)mutation of the RET proto-oncogene,which was one of the highest incidence mutation types reported according to the literature.Rest of the family members do not have the same mutationConclusion1.Most of the MEN1 patients are middle-aged and their clinical manifestations are characterized by pancreatic neuroendocrine tumor,hyperparathyroidism as well as pituitary tumor.In our study,patients with MEN1 were mainly diagnosed by clinical manifestations.The clinical manifestations of MEN1 are diverse,and multidisciplinary cooperation is needed to improve the clinical diagnosis rate of MEN 1 patients2.The incidence of adrenal lesions in Chinese MEN1 patients is similar to foreign countries,but most of them benign with non-functional lesions.There are still a certain proportion of adrenal cortical carcinoma among foreign patients,which suggested that MEN1 patients should be routinely screened and followed up for adrenal lesions.3.The relationship between genotype and phenotype of MEN2A patients were performed.Our analysis results demonstrated that MEN2A patients' death is mainly related to medullary thyroid cancer.For MTC patients,germline mutation gene test of RET proto-oncogene should be tested.Besides,earlier screening of family members who may be affected by this kind of disease could diagnosed timely,which may have a better prognosis of MEN2 patients.