DICER1 mutation and pituitary prolactinoma.
DICER1 mutation and pituitary prolactinoma.
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DOI：
10.1530/edm-18-0087
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发表时间：
2018-09-25
影响因子：
--
通讯作者：
Ray D
中科院分区：
文献类型：
--
作者：
Cotton E;Ray D
一名携带生殖系DICER1突变的年轻女子在闭经时被发现患有垂体微催乳素瘤。这一突变是在患者患有卵巢癌的女儿过早死亡后进行的家庭筛查的结果。患者正在进行甲状腺疾病的后续筛查，调查是在她闭经时开始的。MR扫描发现直径6 mm的垂体微腺瘤，并伴有催乳素升高。小剂量的卡麦角林有效地抑制了催乳素，恢复了她的月经周期。DICER是一种核糖核酸酶，对于处理小的非编码RNA是必不可少的。这些分子通过靶向基因序列的降解，在调节基因表达方面发挥着多效性的作用。DICER1根据细胞环境的不同发挥不同的作用，但被认为是一个功能性的肿瘤抑制基因。因此，作为出生后体细胞突变的结果，一个DICER1等位基因的胚系突变不足以导致肿瘤发生，需要对另一个等位基因进行第二次打击。DICER1的缺失与多个肿瘤有关，具有显著的内分泌表现。多发性结节性甲状腺肿常见，分化型甲状腺癌的风险增加。罕见的发育性垂体瘤包括垂体母细胞瘤，但没有功能性垂体腺瘤的报道。由于DICER1突变很少见，病例报告是识别新表现和告知适当筛查方案的唯一手段。DICER1突变会导致内分泌肿瘤。DICER1是小分子非编码RNA表达所必需的。DICER1携带者和微催乳素瘤都是罕见的，但这里报告的是同一人，提示有关联。携带DICER1基因突变患者的内分泌随访应考虑垂体疾病。
A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma when she became amenorrhoic. The mutation was identified as a result of family screening following the early death of the patient’s daughter with ovarian cancer. The patient was in follow-up screening for thyroid disease, and investigations were initiated when she became amenorrhoic. MR scan revealed a 6 mm diameter pituitary microadenoma and raised prolactin. The prolactin was efficiently suppressed with low-dose cabergoline, and her menstrual cycles resumed. Dicer is an RNase enzyme, which is essential for processing small non-coding RNAs. These molecules play pleiotropic roles in regulating gene expression, by targeting mRNA sequences for degradation. DICER1 plays different roles depending on cell context, but is thought to be a functional tumour suppressor gene. Accordingly, germline mutation in one DICER1 allele is insufficient for oncogenesis, and a second hit on the other allele is required, as a result of postnatal somatic mutation. Loss of DICER1 is linked to multiple tumours, with prominent endocrine representation. Multinodular goitre is frequent, with increased risk of differentiated thyroid cancer. Rare, developmental pituitary tumours are reported, including pituitary blastoma, but not reports of functional pituitary adenomas. As DICER1 mutations are rare, case reports are the only means to identify new manifestations and to inform appropriate screening protocols. DICER1 mutations lead to endocrine tumours. DICER1 is required for small non-coding RNA expression. DICER1 carriage and microprolactinoma are both rare, but here are reported in the same individual, suggesting association. Endocrine follow-up of patients carrying DICER1 mutations should consider pituitary disease.