Liu Xiaoge, Li Xin, Zhou Chaoxin, Liu Dan
Department of Ultrasound, Ya'an People's Hospital, Ya'an, Sichuan, China.
Department of Radiology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology, Chengdu, Sichuan, China.
Front Pediatr. 2025 Aug 29;13:1499612. doi: 10.3389/fped.2025.1499612. eCollection 2025.
The Ewing sarcoma family of tumors (ESFT) comprises classic Ewing sarcoma (ES) of the bone and extraskeletal Ewing sarcoma (EES). EES typically arises in the soft tissues of the trunk and extremities. Primary breast ES is a rare entity, predominantly reported as clinical case reports. Furthermore, pediatric primary breast ES is exceptionally rare. To date, there have been few reports of clinical cases.
we report a rare case of primary breast ES in a 13-year-old girl from a Chinese ethnic minority group.She presented with an accidentally discovered enlarging mass in her right breast. Initial evaluations at a local hospital, including breast ultrasound and chest CT scan, revealed an 11.8 × 10.3 × 8.5 cm solid and cystic mass within the right breast.This was initially misdiagnosed as a fibroadenoma or a phyllodes tumor, likely due to her younger age. Laboratory findings showed elevated levels of lactate dehydrogenase (LDH) and alkaline phosphatase (ALP). No other extra-skeletal or skeletal lesions were found. Although the patient underwent surgical resection at the local hospital, the inability to obtain definitive histopathological results-owing to limited local medical resources and geographical constraints-precluded the administration of adjuvant therapy. Unfortunately, recurrence was observed just three months postoperatively. Subsequently, in our institution, the definitive diagnosis of primary breast ES was established through immunohistochemical analysis and fluorescence hybridization (FISH). Despite receiving standard chemotherapy and radiotherapy for ES, the patient experienced repeated local recurrences and widespread bone metastases 15 months after her initial diagnosis, ultimately passing away 18 months post-diagnosis.
Primary breast ES represents a rare and aggressive malignancy in children. Early discovery, diagnosis, and treatment are crucial for improving survival rates and life quality for these patients.US, CT, and MRI can facilitate clinical diagnosis and preoperative evaluation. This case highlights the necessity of enhancing clinicians and radiologists awareness about this uncommon condition, especially in pediatric patients and in under-served regions.
尤因肉瘤肿瘤家族（ESFT）包括骨原发性尤因肉瘤（ES）和骨外尤因肉瘤（EES）。EES通常发生于躯干和四肢的软组织。原发性乳腺ES是一种罕见的疾病，主要以临床病例报告形式报道。此外，儿童原发性乳腺ES极为罕见。迄今为止，临床病例报告很少。
我们报告一例来自中国少数民族的13岁女孩原发性乳腺ES的罕见病例。她因偶然发现右乳肿块增大而就诊。当地医院的初步评估，包括乳腺超声和胸部CT扫描，显示右乳内有一个11.8×10.3×8.5cm的实性和囊性肿块。最初因患者年龄较小，该肿块被误诊为纤维腺瘤或叶状肿瘤。实验室检查结果显示乳酸脱氢酶（LDH）和碱性磷酸酶（ALP）水平升高。未发现其他骨外或骨骼病变。尽管患者在当地医院接受了手术切除，但由于当地医疗资源有限和地理限制，无法获得明确的组织病理学结果，因此无法进行辅助治疗。不幸的是，术后仅三个月就观察到复发。随后，在我们机构，通过免疫组化分析和荧光杂交（FISH）确诊为原发性乳腺ES。尽管接受了ES的标准化化疗和放疗，但患者在初次诊断后15个月出现反复局部复发和广泛骨转移，最终在诊断后18个月去世。
原发性乳腺ES是儿童罕见的侵袭性恶性肿瘤。早期发现、诊断和治疗对于提高这些患者的生存率和生活质量至关重要。超声、CT和MRI有助于临床诊断和术前评估。本病例强调了提高临床医生和放射科医生对这种罕见疾病认识的必要性，特别是在儿科患者和医疗服务不足的地区。
