一例晚期乳腺癌合并吉特曼综合征。

IF 0.5 Q4 ONCOLOGY
International Cancer Conference Journal Pub Date : 2023-01-04 eCollection Date: 2023-04-01 DOI:10.1007/s13691-022-00593-4
Yuko Tanaka, Miyuki Muramatsu, Yoshihiro Miyauchi, Yoshio Suzuki, Tamaki Morohashi, Kandai Nozu
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引用次数: 0

摘要

吉特曼综合征(Gitelman syndrome,GS)是一种罕见的常染色体隐性遗传病,是由于远端肾小球噻嗪类药物敏感区段的氯化钠(NCCT)和镁转运体编码基因突变引起的失盐性肾小管病变。我们接诊了一名 45 岁的女性患者,她因低钾血症导致全身乏力已有 8 年之久,临床诊断为 Gitelman 综合征。她主诉左侧乳房有一硬块,但未得到缓解,遂到医院就诊。肿瘤被诊断为人表皮生长因子受体 2(HER2)阳性乳腺癌。我们在此报告了首例患有吉特曼综合征的乳腺癌患者,该患者还患有其他肿瘤,包括结肠息肉、肾上腺腺瘤、卵巢囊肿和多发性子宫肌瘤,并对相关文献进行了综述。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of advanced breast cancer with Gitelman syndrome.

Gitelman syndrome (GS) is a rare, mostly autosomal recessive disease this is a salt-losing tubulopathy caused by mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide-sensitive segments of the distal nephron. We encountered a 45-year-old female who has suffered from whole-body weakness because of hypokalemia for 8 years and diagnosed with Gitelman syndrome clinically. She visited the hospital with a complaint of an unrelieved hard mass of the left breast. The tumor was diagnosed as human epidermal growth factor receptor 2 (HER2)-positive breast cancer. We herein report this first case of a breast cancer patient with Gitelman syndrome who developed other neoplasms including colon polyp, adrenal adenoma, an ovarian cyst, and multiple uterine fibroids and provide a review of the pertinent literature.

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来源期刊
自引率
14.30%
发文量
57
期刊介绍: This online-only journal publishes original case reports on all types of cancer. In particular, we welcome not only case reports of educational value in the diagnosis and treatment of cancers, but also reports on molecularly analyzed cancer cases, including gene mutations, gene fusions, gene expression, and changes in copy number, regardless of their known clinical significance. Assessing the molecular analysis of a tumor usually requires a “cancer conference” in which experts from various fields discuss it. Even if the authors and their respective “cancer conference” were unable to determine the clinical significance of molecular changes at the time of submission and publication, their data may provide evidence that will help the scientific community develop precision medicine solutions in the future. We welcome case reports with reviews of the literature on similar cases, as they are more useful and valuable to readers than are reports of rare cases. International Cancer Conference Journal is the official publication of the Japan Society of Clinical Oncology (JSCO). - Presents an online-only collection of original case reports on all types of cancer - In particular, welcomes molecularly analyzed cancer cases - The Official Publication of the Japan Society of Clinical Oncology (JSCO)
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