| Summary: | 碩士 === 國立臺灣大學 === 分子醫學研究所 === 97 === The definition of MEN1 is two or more multiple endocrine neoplasia tumors have occurred on same patient, this is also one type of autosomal dominant genetic diseases with over 90% of prevalence. The symptoms including hypercalcemia resulting from parathyroid tumor (100%), pancreatic islet cell tumors（40％）and anterior pituitary tumours（30％). In the year of 1997, MEN1 gene was generally known as correlation with other diseases as patients were found with MEN1 symptom during clinical observation. However, there are 20%~25% of patients with negative MEN1 gene screening test result. 2006 and 2007 also confirmed that p27Kip1 gene mutation will also resulting in anterior pituitary and parathyroid tumors. The p27Kip1 protein translational by p27Kip1 gene will influence the regulator of cell cycle and further more to the growth of tumor cells.
There are five articles related to CDKN1B gene mutation from HGMD (Human Mutation Database at the Institute of Medical Genetics in Cardiff). Only one article among the five is about patient’s clinical symptoms are pituitary and parathyroid tumors. In the year of 2009, NIDDK (National Institute of Diabetes and Digestive and Kidney Diseases) published a study report on “germline mutation within the cyclin-dependent kinase inhibitor family (p15, p16, p18, p19, p21, p27) genes. Total 196 patients participated in the study; they had MEN1 clinical symptom but no MEN1 gene mutation result from gene screening test. The report showed that total 9 mutation points have been found and the ratios are, p15(1%), p18 (0.5%), p21(0.5%) and p27(1.5%). Currently, not CDKN1B gene mutation case being reported in Taiwan.
A case study was done by Dr. Fu-Jen Chen regarding a suspicious MEN1 patient who has been given the process of MEN1 gene mutation possibility testing. The result came back was negative, however, this could not complete rule out the possibility of patient’s self genetic defects. There is no significant genetic mutation found from the analysis of p27 kip1 exon, on the other hand, there do have clearly clinical symptoms, primary hyperparathyroidism (PHPT) and anterior pituitary tumors, whereas there is no same medical history shared with other family member. We can conclude that the age to be fall to ill is between age 22 to 73, and in the case of “germ-line mutation”, the age fall to ill will usually be younger. First time usually will onset in one’s 40s. This patient was age 81 when fall to ill, and his family members were all normal and healthy. Hence, we can presume this patient is sporadic MEN-1. This may be developed along by all the factors from outside environment or patient’s past living condition.
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