Mirrored Metastatic Neuroendocrine Tumor in a Mother-Daughter Duo With Mutations in the MEN1 Gene.

IF 9.6 3区 医学 Q1 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Clinical Nuclear Medicine Pub Date : 2025-05-01 Epub Date: 2025-02-28 DOI:10.1097/RLU.0000000000005732
Piyush Aggarwal, Gurjeet Kaur, Sanjay Kumar Bhadada, Rajender Kumar, Somit Pandey, Ashwani Sood, Bhagwant Rai Mittal
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引用次数: 0

Abstract

Multiple endocrine neoplasia (MEN) 1 syndrome may present with either of any or all neuroendocrine tumors (NETs), parathyroid and pituitary adenoma. There is a paucity of data on the intronic and exonic mutations in the MEN1 gene associated with the MEN1 syndrome. We present an interesting study of a mother-daughter duo of MEN1 who had a similar lesions distribution of metastatic NET and underwent genetic analysis to reveal a rare mutation in the MEN1 gene and both first-degree relatives presented with metastatic NET without any other syndromic manifestation of MEN1 syndrome. Both patients received peptide receptor radionuclide therapy.

MEN1基因突变的母女二人镜像转移性神经内分泌肿瘤
多发性内分泌瘤(MEN) 1综合征可出现任何或所有神经内分泌肿瘤(NETs),甲状旁腺和垂体腺瘤。关于与MEN1综合征相关的MEN1基因的内含子和外显子突变的数据缺乏。我们提出了一项有趣的研究,MEN1的母女二人具有相似的转移性NET病变分布,并进行了遗传分析,揭示了MEN1基因的罕见突变,并且两个一级亲属都表现为转移性NET,没有任何MEN1综合征的其他综合征表现。两例患者均接受肽受体放射性核素治疗。
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来源期刊
Clinical Nuclear Medicine
Clinical Nuclear Medicine 医学-核医学
CiteScore
2.90
自引率
31.10%
发文量
1113
审稿时长
2 months
期刊介绍: Clinical Nuclear Medicine is a comprehensive and current resource for professionals in the field of nuclear medicine. It caters to both generalists and specialists, offering valuable insights on how to effectively apply nuclear medicine techniques in various clinical scenarios. With a focus on timely dissemination of information, this journal covers the latest developments that impact all aspects of the specialty. Geared towards practitioners, Clinical Nuclear Medicine is the ultimate practice-oriented publication in the field of nuclear imaging. Its informative articles are complemented by numerous illustrations that demonstrate how physicians can seamlessly integrate the knowledge gained into their everyday practice.
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