1型神经纤维瘤病合并乳腺癌的手术及放疗考量：1例病例报告及文献综述
Surgical and radiation considerations in breast cancer with neurofibromatosis type 1: A case report and literature review.
作者信息
Tanaka Kenichiro, Arai Masami, Sakuraba Shunsuke, Kushida Tomoyuki, Ito Tomoaki, Kutomi Goro
机构信息
Department of Surgery, Juntendo University Shizuoka Hospital, 1129 Nagaoka, Izunokuni-shi, Shizuoka 410-2295, Japan.
Department of Clinical Genetics, Diagnostics and Therapeutics of Intractable Diseases, Juntendo University Graduate School of Medicine, Genome Medical Center, Juntendo University Juntendo Hospital, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
出版信息
Int J Surg Case Rep. 2025 Jul 17;134:111698. doi: 10.1016/j.ijscr.2025.111698.
INTRODUCTION AND IMPORTANCE
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that predisposes individuals to skin pigmentation changes and nerve tissue tumors, with an incidence of 1 in 2500. NF1 is associated with various malignancies, including breast cancer. This is a rare case of breast cancer with NF1 who chose breast-conserving surgery (BCS) and radiotherapy.
PRESENTATION OF CASE
A 66-year-old NF1 patient with breast cancer underwent partial mastectomy, sentinel lymph node biopsy, and radiotherapy (40.5 Gy). Chemotherapy was recommended but the patient opted for adjuvant endocrine therapy. No recurrence or sarcoma formation was observed over two years post-treatment.
CLINICAL DISCUSSION
In breast cancer cases, decisions between mastectomy and BCS are critical. Radiotherapy is an essential component following BCS. The risk of post-radiotherapy sarcoma formation is higher in NF1 patients, complicating the choice of BCS in this group.
CONCLUSION
This case highlights the complexities of treatment decisions, including increased sarcoma risk from radiation in NF1 patients.
引言与重要性
1型神经纤维瘤病（NF1）是一种常染色体显性遗传病，会使个体易患皮肤色素沉着变化和神经组织肿瘤，发病率为1/2500。NF1与多种恶性肿瘤相关，包括乳腺癌。这是一例患有NF1的乳腺癌患者选择保乳手术（BCS）和放疗的罕见病例。
病例介绍
一名66岁患有乳腺癌的NF1患者接受了部分乳房切除术、前哨淋巴结活检和放疗（40.5 Gy）。建议进行化疗，但患者选择了辅助内分泌治疗。治疗后两年未观察到复发或肉瘤形成。
临床讨论
在乳腺癌病例中，乳房切除术和保乳手术之间的决策至关重要。放疗是保乳手术后的重要组成部分。NF1患者放疗后肉瘤形成的风险更高，使该组患者选择保乳手术变得复杂。
结论
该病例突出了治疗决策的复杂性，包括NF1患者放疗导致肉瘤风险增加。
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