Background

The DICER1 mutation is a pathogenic, germline mutation that predisposes patients to uncommon malignancies at a young age.

Case

A 6-month-old female infant presented with vaginal bleeding and a protruding vaginal mass of unclear pathogenesis. Chemotherapy was initially targeted toward a germ cell tumor; after pathologic testing and auto-amputation of the tumor, the patient was diagnosed with a rare DICER1-associated embryonal rhabdomyosarcoma. Subsequently, her treatment course was restructured and family genetic surveillance instituted.

Summary and Conclusion

Consideration for DICER1 mutation in tumors with complex pathology and unique presentation is critical to aid in diagnosis and management, and direct future comprehensive surveillance.

中文翻译：

---

在婴儿中检测到的 DICER1 突变指导准确诊断自动截肢胚胎横纹肌肉瘤

背景

DICER1突变是一种致病性的种系突变，使患者在年轻时易患罕见的恶性肿瘤。

案子

一名 6 个月大的女婴出现阴道流血和一个发病机制不明的突出阴道肿块。化疗最初是针对生殖细胞肿瘤的。在对肿瘤进行病理检查和自动截肢后，患者被诊断出患有罕见的DICER1相关胚胎性横纹肌肉瘤。随后，她的治疗过程进行了重组，并开始了家庭遗传监测。

总结与结论

在具有复杂病理和独特表现的肿瘤中考虑DICER1突变对于帮助诊断和管理以及指导未来的全面监测至关重要。