埃勒斯-当洛斯综合征患者的早期乳腺癌手术和放射治疗病例。
Surgical and irradiated case of early breast cancer in a patient with Ehlers-Danlos syndrome.
发表日期:2024 Aug 23
作者:
Asumi Yamazaki, Hiroshi Tada, Yuki Muroyama, Yuto Yamazaki, Minoru Miyashita, Narumi Harada-Shoji, Yohei Hamanaka, Akiko Ebata, Miku Sato, Tokiwa Motonari, Mika Yanagaki, Tomomi Kon, Aru Sakamoto, Takashi Suzuki, Takanori Ishida
来源:
MOLECULAR & CELLULAR PROTEOMICS
摘要:
Ehlers-Danlos 综合征 (EDS) 是一种罕见的遗传性结缔组织疾病,其特征是皮肤和关节过度伸展以及皮肤和血管组织脆弱。血管 EDS 是 EDS 最严重的形式,具有异常的动脉脆性。目前尚无血管性 EDS 患者发生乳腺癌的报道。在此,我们报告一例非常罕见的血管性EDS患者乳腺癌病例。一名46岁的血管性EDS女性,因体检发现左乳腺癌(cStage 0),接受了部分左乳房切除术和前哨淋巴结活检。最终病理诊断为乳腺浸润性导管癌(pStage IA)[激素受体阳性,HER2评分2模棱两可(FISH阳性),Ki-67LI 18%,luminal-HER2型]。提交 BluePrint 作为确定术后治疗策略的辅助手段,BluePrint 分子亚型 HER2 型。然而,使用 Predict 得出的 10 年乳腺癌死亡率风险较低 (5%)。与患者协商后,决定对保留的乳房进行术后放疗并仅结合激素治疗。术后伤口愈合没有延迟,患者术后9个月无转移复发。我们对一名患有血管性EDS的乳腺癌患者进行了手术、术后放疗和激素治疗,没有发生重大并发症。© 2024。作者(s)。
Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disease characterized by hyperextensibility of the skin and joints and tissue fragility of the skin and blood vessels, Vascular EDS is the most severe form of EDS, with abnormal arterial fragility. There have been no reports of breast cancer occurring in patients with vascular EDS. Here, we report here a very rare case of breast cancer in a patient with vascular EDS.A 46-year-old woman with vascular EDS underwent partial left mastectomy and sentinel lymph node biopsy for left breast cancer (cStage 0) detected by medical examination. The final pathological diagnosis was invasive ductal carcinoma of the breast (pStage IA) [hormone receptor-positive, HER2 score 2 equivocal (FISH-positive), Ki-67LI 18%, luminal-HER2 type]. BluePrint was submitted as an aid in determining the postoperative treatment strategy, BluePrint Molecular Subtype HER2-type. However, the 10-year breast cancer mortality risk using Predict was low (5%). After consultation with the patient, the decision was made to administer postoperative radiation to the preserved breast along with hormone therapy only. There was no delay in postoperative wound healing, and the patient was free of metastatic recurrence for 9 months after surgery.We performed surgery, postoperative radiotherapy, and hormonal therapy in a breast cancer patient with vascular EDS without major complications.© 2024. The Author(s).