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
{"title":"Mirrored Metastatic Neuroendocrine Tumor in a Mother-Daughter Duo With Mutations in the MEN1 Gene.","authors":"Piyush Aggarwal, Gurjeet Kaur, Sanjay Kumar Bhadada, Rajender Kumar, Somit Pandey, Ashwani Sood, Bhagwant Rai Mittal","doi":"10.1097/RLU.0000000000005732","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"e307-e309"},"PeriodicalIF":9.6000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Nuclear Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/RLU.0000000000005732","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/2/28 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
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.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
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.
期刊最新文献
Low FDG Uptake of a Mass Initially Suspected of Being a Nasopharyngeal Carcinoma: MRI and FDG PET/CT Reveal a Clivus Chordoma. Negative 18 F-FES PET/CT Despite Estrogen Receptor Positivity by Immunohistochemistry. Phosphaturic Mesenchymal Tumor in the Foot Detected by 99m Tc-FAPI-46 SPECT/CT and 18 F-FDG PET/CT. Superior Performance of 99m Tc-FAPI SPECT/CT Compared With 99m Tc-PSMA Scintigraphy in the Initial Staging of Prostate Cancer: A Case Report. Detection of Peritoneal Carcinomatosis in Prostate Cancer via 99m Tc-HYNIC-PSMA-11 Scintigraphy.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1