Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype

Multiple endocrine neoplasia may have an increased risk of other cancers？—Clinical characteristics of Multiple endocrine neoplasia type 1 or 2 patients with malignant tumors

“…However, the current view was that the association of thyroid abnormalities in patients with MEN1 may be incidental [3] . Genetic analysis of papillary cancer tissue did not show LOH in MEN-1 patients, and there were no evidence in vitro, animal or human studies associating germline mutations of MEN1 with the development of PTC [21] . Although there was insu cient evidence for an association between MEN-1 and the development of thyroid cancer, we speculated that the following factors might contribute to the higher incidence of PTC in MEN-1 patients.…”

“…Three MEN-1 cases presented urologic neoplasms including renal clear cell carcinoma (RCC), renal papillary cell carcinoma and upper tract urothelial carcinoma(UTUC). Perakakis reported a German family with MEN-1 also have been diagnosed with atypical tumor including renal cell carcinoma, papillary thyroid cancer and prostate cancer [23] . However, no studies have con rmed that the mutation of MEN1 gene is associated with the development of urinary tumors.…”

“…[5,6] Results from clinical studies and preclinical experiments indicate an additional involvement of MEN-1, which encodes menin, in the development of nonendocrine tumors [3] . There have been several case reports about MEN-1 complicating with other malignancies, such as breast cancer, melanoma, renal cell carcinoma and prostate cancer [7][8][9] . Further observation is needed to determine whether there is a direct relationship between the two or whether it happens by chance.…”

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

“…It is suggestive to speculate that the type of MEN1 gene mutation could influence the clinical manifestations of MEN1. In MEN1 syndrome exhibiting a non-aggressive phenotype, frameshift or nonsense leading to a truncated and consequently inactivated protein have been identified in most cases (120). Likewise, FIHP is characterized by the onset of primary hyperparathyroidism alone and is related to specific mutations of MEN1 gene that often include missense mutations and only occasionally nonsense or frameshift mutations (22,89).…”