与胰腺神经内分泌肿瘤相关的遗传综合征及影像学诊断策略

IF 2.3 3区医学 Q2 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING

Abdominal Radiology Pub Date : 2024-12-19 DOI:10.1007/s00261-024-04764-0

Jiawei Liu, Jian Ling, Lujie Li, Yuxin Wu, Chenyu Song, Siya Shi, Zhi Dong, Jifei Wang, Mimi Tang, Shi-Ting Feng, Yanji Luo, Danyang Xu

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引用次数: 0

摘要

胰腺神经内分泌肿瘤（pNENs）是第二常见的胰腺恶性肿瘤。虽然大多数病例是散发的，但也有一小部分与遗传综合征有关，如多发性内分泌瘤（MEN）、Von Hippel-Lindau综合征（VHL）、1型神经纤维瘤病（NF1）和结节性硬化症（TSC）。本综述旨在利用pNENs作为揭示疾病全谱的线索，提供对诊断的全面理解。它有助于迅速识别其他器官的异常，识别家族性基因突变，并实现个性化治疗。

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Genetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.

Pancreatic neuroendocrine neoplasms (pNENs) are the second most common pancreatic malignancy. While most cases are sporadic, a small proportion is associated with genetic syndromes, such as Multiple Endocrine Neoplasia (MEN), Von Hippel-Lindau Syndrome (VHL), Neurofibromatosis Type 1 (NF1), and Tuberous Sclerosis Complex (TSC). This review aims to use pNENs as a clue to reveal the full spectrum of disease, providing a comprehensive understanding of diagnosis. It aids in promptly identifying abnormalities in other organs, recognizing familial genetic mutations, and achieving personalized treatment.

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来源期刊

Abdominal Radiology Medicine-Radiology, Nuclear Medicine and Imaging

CiteScore

5.20

自引率

8.30%

发文量

334

期刊介绍： Abdominal Radiology seeks to meet the professional needs of the abdominal radiologist by publishing clinically pertinent original, review and practice related articles on the gastrointestinal and genitourinary tracts and abdominal interventional and radiologic procedures. Case reports are generally not accepted unless they are the first report of a new disease or condition, or part of a special solicited section. Reasons to Publish Your Article in Abdominal Radiology: · Official journal of the Society of Abdominal Radiology (SAR) · Published in Cooperation with: European Society of Gastrointestinal and Abdominal Radiology (ESGAR) European Society of Urogenital Radiology (ESUR) Asian Society of Abdominal Radiology (ASAR) · Efficient handling and Expeditious review · Author feedback is provided in a mentoring style · Global readership · Readers can earn CME credits