Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations

Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts

“…Whether or not this mutation is associated with a tumor phenotype remains unknown. However, recent studies have suggested potential genotype-phenotype correlations in MEN1 mutations (6). Thevenon et al reported that the overall risk of death was higher when mutations including Leu338Pro affected the JunD interacting domain, a partner protein of MENIN (11).…”

“…Approximately 1,700 mutations with high penetrance are broadly distributed in the MEN1 gene, and clustering of mutations is observed in exons 2 and 10 (6, 7). However, previous studies have not established clear genotype-phenotype correlations of MEN1 mutations (6). Germline mutational testing for the MEN1 gene is recommended for patients presenting with these clinical and pathological characteristics and firstdegree relatives (3).…”

Multiple Endocrine Neoplasia Type 1 Involving Both Liver and Lung: A Case Report

“…Once the gene test is positive, close clinical follow up observation should be carried out according to the guidelines in order to achieve early detection, early diagnosis, early treatment and improve survival time. First degree relatives of patients are also recommended for MEN1 gene screening to identify which family members need to enter the clinical observation process, early detection and treatment of complications caused by endocrine hormones, and more importantly, early detection of highly malignant lesions will increase tumor R0 resection rate, so that patients have a longer survival time [7,9,10]. One patient with the same MEN1 gene mutation as the proband was found in this pedigree, and there was no clinical phenotype at present.…”

“…Various hormone indexes were examined before operation. BMI was 25.39,CEA was 2.51 ng/ml ( 5) AFP was 2.61 ng/ml ( 7), PIVKA-II was 17.00 mAU/ml 40 , AFP-L3/AFP was 0.5. Serum parathormone was 177.00 Pg/ml(Reference intervals 15-88 Pg/ml, Same as below), serum calcium was 2.82 mmol/L (2.11-2.52), serum phosphorus was 0.88 mmol/L (0.85-1.51), adrenocorticotrophic hormone was 12.7 pg/ml (7.2-63.6), renin (upright posture) was 8.90 ng/L (4.00-24.00), angiotensin (upright posture) was 185.99 ng/L (49.00-252.00), angiotensin (lying posture) was 160.43 ng/L (25.00-129.00), aldosterone (upright posture) was 14.23 ng/dL (4.00-31.00), aldosterone (lying posture) was 8.10 ng/L (1.00-16.00), cortisol (8Am) was 262.32 ng/L (240 -680), cortisol (4Pm) was 170.97 nmol/L ( 276.00), sex hormone binding globulin was 55.91 nmol/L (14.5-48.4), dehydroepiandrosterone was 58.50 ug/dL (38-313), follicle-stimulating Hormone was 3.51 IU/L (1.27-19.26), luteinizing hormone was 1.46 IU/L(1.25-8.63), prolactin was 6.54 ng/ml (2.64-13.13), growth hormone was 0.02 ng/ml (0.004-1.406), testosterone was 1.80 nmol/L (6.07-27.24), progesterone was 0.86 ng/ml (0.1-0.84), estradiol was 14.54 Pg/ml (15-38.95), plasma insulin was 9.93 mU/L (2.6-24.9), c-Peptide was 3.03 Ug/L (1.1-4.4), dopamine was 93.8 pmol/L (≤195.7), adrenaline was 86.9 pmol/L ≤605.4 norepinephrine was 958.6 pmol/L 414-4435.5 , gastrin was 52.10 pg/ml (13-115).…”

“…However, primary tumor of MEN1 in the liver has not been reported. Moreover, MEN1, as a hereditary disease, no clear association between the type of gene mutation and clinical manifestations has been found [7]. These unrepresentative clinical phenotypes make diagnosis di cult, once patients were misdiagnosed, their interests will be greatly affected.…”