Clinical and genetic analysis of seven Chinese pedigrees affected with multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis.
10.3760/cma.j.cn511374-20210727-00627
- VernacularTitle:七个多发性内分泌腺瘤2A型伴皮肤苔藓淀粉样变家系的临床及遗传学分析
- Author:
Xudong FANG
1
;
Huihong WANG
;
Fang DONG
;
Bijun LIAN
;
Feng LI
;
Hangyang JIN
;
Yufu YU
;
Nan ZHANG
;
Xiaoping QI
Author Information
1. Department of Oncologic and Urologic Surgery, the 903rd PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang 310004, China. qxplmd@163.com.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adrenal Gland Neoplasms;
Adult;
Amyloidosis, Familial;
Carcinoma, Neuroendocrine;
China;
Female;
Humans;
Lichens;
Male;
Middle Aged;
Multiple Endocrine Neoplasia Type 2a/genetics*;
Pheochromocytoma;
Proto-Oncogene Proteins c-ret/genetics*;
Skin Diseases, Genetic;
Thyroid Neoplasms/genetics*;
Young Adult
- From:
Chinese Journal of Medical Genetics
2022;39(9):938-943
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the pathological characteristics and significance of RET proto-oncogene screening in multiple endocrine neoplasia type 2A (MEN2A) with cutaneous lichen amyloidosis (CLA).
METHODS:Clinical data of 51 members from 7 unrelated pedigrees of MEN2A-CLA were collected. Systemic clinical investigations including biochemical testing, imaging examination, germline RET variant screening and histopathological examination were carried out.
RESULTS:RET gene variants were detected in 28 patients with MEN2A (C634G/F/R/S/W and C611Y) including 12 males and 16 females, with the mean age of diagnosis being (41.1 ± 18.3) years old, which were consistent with their clinical manifestations. The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), hyperparathyroidism (HPTH) and CLA among 28 MEN2A patients were 89.3%, 28.6%, 7.1% and 28.6%, respectively. Comparison of the incidence of MTC/PHEO/HPTH and CLA between C611Y and C634G/F/R/S/W, only PHEO and CLA in C611Y were lower than those in C634G/F/R/S/W (P < 0.05; P < 0.05). Among 8 patients with CLA, the male to female ratio was 2 : 6. The clinical features included pruritus in the interscapular region and presence of dry, thickened, scaly, brown pigment, clustered or desquamate-like plaques. The mean onset age of CLA [(18.4 ± 4.6) years] versus the mean age at diagnosis of CLA or MEN2A were significantly different (P < 0.001; P < 0.001).
CONCLUSION:MEN2A-CLA may be the early clinical manifestation of MEN2A and most frequently occurred along with RET-C634 variant. To facilitate the recognition of MEN2A-CLA, to combine family investigation and screening of RET variant are helpful for early diagnosis and standardized treatment, which can improve the long-term outcome of MEN2A-specific tumors.
