목차
Multiple endocrine neoplasia (MEN)(복합내분비샘신생물증후군)이란?
- 2개 이상의 다른 호르몬을 분비하는 장기에서 발생하는 신생물
- 가족 구성원 중 다수에서 발견되는데, 여러 가지의 특정 유전적 장애가 내분비샘의 신생물이 발생하는 원인이 되어, 호르몬 과다증후군을 일으키게 된다.
분류
- 4가지 major forms 존재: MEN types 1–4 (MEN 1–4)
- MEN은 autosomal dominant하게 유전되거나 혹은 특별한 가족력 없이 sporadic하게 발생
Multiple Endocrine Neoplasia (MEN) Syndromes
Type (Chromosomal Location) | Tumors (Estimated Penetrance) | |
MEN 1 (11q13) |
| |
MEN 2 (10 cen-10q11.2) | MEN 2A |
|
MTC only |
| |
MEN 2B (also known as MEN 3) |
| |
MEN 4 (12p13) |
|
①: Insufficient numbers reported to provide prevalence information.
Cf. Multiple Endocrine and Other Organ Neoplasia Syndromes (MEONs)
- MEN 1–4 외에 multiple endocrine 과 연관된 적어도 6개 이상의 증후군이 존재한다.
- autosomal dominant disorders (예외: McCune-Albright syndrome - mosaic expression of a postzygotic somatic cell mutation)
Multiple Endocrine and Other Organ Neoplasia Syndromes (MEONs)
|
진단
- 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.