1型神经纤维瘤病伴乳腺癌及恶性周围神经鞘肿瘤1例。

IF 0.5 Q4 ONCOLOGY
International Cancer Conference Journal Pub Date : 2025-02-27 eCollection Date: 2025-04-01 DOI:10.1007/s13691-025-00754-1
Nanami Sugimura, Shintaro Takao, Akiko Okamoto, Masaru Miyashita, Naoko Chayahara, Takuya Takahashi, Hiroaki Sanada, Naoki Kanata, Naoto Katayama
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引用次数: 0

摘要

1型神经纤维瘤病(NF1)患者患乳腺癌和其他恶性肿瘤的风险增加。在NF1患者中寻找乳腺癌转移的过程中,发现乳腺癌以外的恶性肿瘤的可能性很大。我们报告了一例80岁的NF1女性,她被诊断为乳腺发光- her2型浸润性导管癌和肝脏恶性周围神经鞘肿瘤(MPNST)。在发现右乳房肿块2个月后,进一步检查证实乳腺癌并转移到右腋窝淋巴结。全身CT增强扫描显示大的肝脏肿瘤,最初怀疑是乳腺癌转移。然而,考虑到患者潜在的NF1,超声引导下的肝活检证实了MPNST的诊断。患者有手术切除前臂MPNST的病史。由于MPNST的高转移潜力,肝脏肿瘤被诊断为MPNST转移。她拒绝了MPNST的化疗,目前正在接受乳腺癌的单独内分泌治疗。有必要认识到NF1患者易患全身各种肿瘤。在对NF1患者的乳腺癌进行系统评估时,应彻底调查任何发现的病变是否存在潜在的恶性肿瘤,而不是乳腺癌转移。活检和病理检查有助于确保准确的鉴别诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Co-occurrence of breast cancer and malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1.

Patients with neurofibromatosis type 1 (NF1) have an increased risk of developing breast cancer and other malignancies. During the search for breast cancer metastases in NF1 patients, there is a substantial probability of detecting malignancies other than breast cancer. We present a case of an 80-year-old woman with NF1 who was diagnosed with both invasive ductal carcinoma of the luminal-HER2 type in the breast and a malignant peripheral nerve sheath tumor (MPNST) of the liver. After noticing a lump in her right breast for 2 months, further examination confirmed breast cancer with metastases to the right axillary lymph nodes. A whole-body contrast-enhanced CT scan revealed large hepatic tumors initially suspected to be metastases from breast cancer. However, given the patient's underlying NF1, an ultrasound-guided liver biopsy was performed, which confirmed the diagnosis of MPNST. The patient had a history of surgical resection for the MPNST in the forearm. Due to the high metastatic potential of MPNST, the liver tumors were diagnosed as metastases of the MPNST. She declined chemotherapy for MPNST and is currently receiving endocrine therapy alone for breast cancer. It is necessary to acknowledge the predisposition of patients with NF1 to develop various tumors throughout the body. When performing a systemic evaluation for breast cancer in NF1 patients, any detected lesions should be thoroughly investigated for potential malignancies other than breast cancer metastasis. Biopsy and pathological examinations are useful to ensure an accurate differential diagnosis.

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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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