MEN 혹은 MEON syndrome은 다음과 같은 3가지 기준 중 1개를 만족시킬 때 진단 가능
clinical features (two or more of the associated tumors [or lesions] in an individual)
familial pattern (one of the associated tumors [or lesions] in a first-degree relative of a patient with a clinical diagnosis of the syndrome)
genetic analysis (a germline mutation in the associated gene in an individual, who may be clinically affected or asymptomatic)
돌연변이 분석(Mutational analysis)은 MEN/MEON syndromes에서 다음과 같은 임상적 유용성을 가진다.
confirm the clinical diagnosis
identify family members who harbor the mutation and require screening for relevant tumor detection and early/appropriate treatment
identify the ~50% of family members who do not harbor the germline mutation and can, therefore, be alleviated of the anxiety of developing associated tumors
참고자료
해리슨 20/e(2018). 381장
Thakker RV, Newey PJ, Walls GV, et al. Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1). J Clin Endocrinol Metab 2012;97(9):2990–3011.
Newey PJ. Multiple endocrine neoplasia. Medicine 2017;45(9):538–42.