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一名携带种系肿瘤蛋白p53突变的患者发生的乳腺放射性相关肉瘤

Radiation-Associated Sarcoma of the Breast in a Patient With a Germline Tumor Protein p53 Mutation.

作者信息

Thompson Cheyenne, Hakim Muhammad O, Infante-Mendez Jorge, Kesmodel Susan, Goel Neha

机构信息

Surgical Oncology, University of Miami Sylvester Comprehensive Cancer Center, Miami, USA.

Surgical Oncology, University of Miami Hospital, Miami, USA.

出版信息

Cureus. 2021 Oct 7;13(10):e18563. doi: 10.7759/cureus.18563. eCollection 2021 Oct.

Abstract

Radiation-induced sarcoma of the breast is a rare complication that is primarily treated with surgical resection but in patients with advanced disease, a multimodality treatment approach is often required. This case report discusses a 37-year-old female with a history of a pT3N3M0, estrogen receptor (ER)+, progesterone receptor (PR)+, human epidermal growth factor receptor 2 (HER2)+, right breast cancer, and a germline tumor protein (TP) p53 mutation who underwent right modified radical mastectomy, adjuvant systemic therapy, and radiation therapy, and subsequently developed a radiation-induced sarcoma. The patient is a 37-year-old female who has a history of pT3N3M0, ER/PR+, HER2+, and right breast cancer diagnosed in 2014. At the time of diagnosis, she had locally advanced disease and underwent right modified radical mastectomy followed by adjuvant chemotherapy, radiation, delayed right breast implant-based reconstruction, and left breast augmentation with mastopexy. Upon completion of adjuvant chemotherapy, she was started on hormonal therapy. In February 2020, she underwent genetic testing given her early onset of breast cancer and was found to have a germline TP53 mutation. Routine MRI for breast implant evaluation showed two irregular enhancing masses with an additional satellite lesion in the right breast. Right breast ultrasound (US)-guided biopsy revealed two separate foci of high-grade pleomorphic fibroblastic/myofibroblastic sarcoma. Further staging workup with a whole-body MRI was negative for evidence of metastatic disease. Her case was discussed in multidisciplinary sarcoma tumor board and consensus was for surgical resection. She underwent radical resection of the right chest wall masses and subcutaneous tissue, removal of right breast implant and capsulectomy, and left breast mastectomy with left breast implant removal and capsulectomy. The final pathology revealed two separate foci of high-grade pleomorphic fibroblastic/myofibroblastic sarcoma, 1.2 cm and 1.1 cm in their greatest dimensions with negative margins. Her case was re-discussed in multidisciplinary sarcoma tumor board and due to T1 size of the tumors and the negative resection margins, close surveillance with annual whole-body MRI and quarterly chest MRI imaging was recommended. In patients with a germline TP53 mutation and breast cancer, the utilization of adjuvant radiotherapy should be considered cautiously given the increased risk of radiation-associated sarcoma.

摘要

放射性诱发的乳腺肉瘤是一种罕见的并发症,主要通过手术切除进行治疗,但对于晚期疾病患者,通常需要采用多学科综合治疗方法。本病例报告讨论了一名37岁女性,她有pT3N3M0、雌激素受体(ER)阳性、孕激素受体(PR)阳性、人表皮生长因子受体2(HER2)阳性的右乳腺癌病史,以及种系肿瘤蛋白(TP)p53突变,该患者接受了右改良根治性乳房切除术、辅助全身治疗和放射治疗,随后发生了放射性诱发的肉瘤。该患者为37岁女性,有2014年诊断的pT3N3M0、ER/PR阳性、HER2阳性的右乳腺癌病史。诊断时,她患有局部晚期疾病,接受了右改良根治性乳房切除术,随后进行辅助化疗、放疗、延迟的基于右乳房植入物的重建以及左乳房隆乳术加乳房固定术。辅助化疗完成后,她开始接受激素治疗。2020年2月,鉴于她乳腺癌发病早,她接受了基因检测,结果发现有种系TP53突变。用于评估乳房植入物的常规MRI显示右乳房有两个不规则强化肿块以及一个额外的卫星病灶。右乳房超声(US)引导下活检显示两个独立的高级别多形性纤维母细胞/肌纤维母细胞肉瘤病灶。进一步的全身MRI分期检查未发现转移疾病的证据。她的病例在多学科肉瘤肿瘤委员会进行了讨论,一致意见是进行手术切除。她接受了右胸壁肿块和皮下组织的根治性切除、右乳房植入物取出和包膜切除术,以及左乳房切除术并取出左乳房植入物和包膜切除术。最终病理显示两个独立的高级别多形性纤维母细胞/肌纤维母细胞肉瘤病灶,最大直径分别为1.2厘米和1.1厘米,切缘阴性。她的病例在多学科肉瘤肿瘤委员会再次进行了讨论,由于肿瘤大小为T1且切缘阴性,建议每年进行全身MRI和每季度进行胸部MRI成像密切监测。对于有种系TP53突变和乳腺癌的患者,鉴于放射性相关肉瘤的风险增加,应谨慎考虑辅助放疗的使用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dca5/8575327/b51d31e6551f/cureus-0013-00000018563-i01.jpg

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