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隔离的多节和卵泡腺瘤与新发育系DICER1变异相关:一种良性呈现

Joshua Chang¹, Rachel Rabenn², Aditi Parikh³

¹Department of Genetics and Genome Sciences, Department of Urology, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, United States.

Cancer genetics

|July 30, 2025

概括

一种新的DICER1基因变异,c.5528-2del,与家族中孤立的甲状腺和卵泡腺瘤有关. 这一发现扩大了对DICER1综合征的理解.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
内分泌学在内分泌学.

背景情况:

DICER1综合征是一种罕见的遗传性疾病,使个体易患各种瘤,包括多发性肺母细胞瘤和卵巢性带瘤.
DICER1基因中的生殖系致病变体是已确定的DICER1综合征的原因,导致各种临床表现.
多节节是已知的,虽然不是普遍的,在DICER1综合征的谱内的表现.

关键词:

DICER1 的意思是说.毛囊腺瘤是一种毛囊腺瘤.多模块性肠 (Multinodular goiter) 是一种多模块性肠.

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