背景: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的过度扩张以及皮肤和血管的组织脆性,血管性EDS是最严重的EDS,动脉异常脆弱.没有关于血管EDS患者发生乳腺癌的报道。这里,我们在这里报道了一个非常罕见的血管EDS患者的乳腺癌病例。
方法:一名患有血管性EDS的46岁女性患者接受了部分左乳房切除术和前哨淋巴结活检,通过医学检查发现左乳腺癌(cStage0)。最终病理诊断为乳腺浸润性导管癌(pIA期)[激素受体阳性,HER2评分2不确定(FISH阳性),Ki-67LI18%,腔-HER2型]。BluePrint被提交作为确定术后治疗策略的辅助工具,蓝图分子亚型HER2型。然而,使用Predict的10年乳腺癌死亡风险较低(5%).在与患者协商后,我们决定仅在激素治疗的同时对保留的乳房进行术后放疗.术后伤口愈合没有延迟,患者术后9个月无转移性复发。
结论:我们进行了手术,术后放疗,和激素治疗的乳腺癌患者血管EDS无重大并发症。
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: We performed surgery, postoperative radiotherapy, and hormonal therapy in a breast cancer patient with vascular EDS without major complications.