Park Hyea, Chang Chi Son, Choi Suk-Joo, Oh Soo-Young, Roh Cheong-Rae
Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Obstet Gynecol Sci. 2019 Jul;62(4):280-284. doi: 10.5468/ogs.2019.62.4.280. Epub 2019 Jun 21.
Rhabdomyoma is the most common fetal cardiac tumor, and its development is related to tuberous sclerosis. Fetal cardiac rhabdomyomas often spontaneously regress in utero or after birth, but large tumors can cause hemodynamic obstruction. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used as an immunosuppressant after organ transplantation. The mTOR inhibitors are well-known to have anti-tumor activity, and they have been used for the treatment of patients with tuberous sclerosis. In the current case, fetal cardiac rhabdomyoma was completely resolved in utero during oral sirolimus treatment in the mother with tuberous sclerosis. This case shows that oral sirolimus therapy in pregnancy may be a treatment for multiple or large fetal cardiac rhabdomyomas.
横纹肌瘤是最常见的胎儿心脏肿瘤，其发生与结节性硬化症有关。胎儿心脏横纹肌瘤常在子宫内或出生后自行消退，但大的肿瘤可导致血流动力学梗阻。西罗莫司是一种雷帕霉素靶蛋白（mTOR）抑制剂，已被用作器官移植后的免疫抑制剂。众所周知，mTOR抑制剂具有抗肿瘤活性，已被用于治疗结节性硬化症患者。在本例中，患有结节性硬化症的母亲在口服西罗莫司治疗期间，胎儿心脏横纹肌瘤在子宫内完全消退。该病例表明，孕期口服西罗莫司治疗可能是治疗多发性或大的胎儿心脏横纹肌瘤的一种方法。
