胎儿颈部恶性横纹肌样瘤一例

Congenital malignant rhabdoid tumor in a fetal neck:a case report

本文报告一例胎儿原发颈部恶性横纹肌样瘤病例。孕妇孕33周^(+4)B超及孕34周MRI发现胎儿右颈部类圆形实性肿物,神经母细胞瘤及脉管畸形待除外。孕36周复查B超提示胎儿颈部肿物增大,且全身皮下多发实性肿物、右侧胸水、肝脏异常回声,考虑颈部恶性肿瘤伴全身转移可能性大。孕37周剖宫产娩出,新生儿Apgar评分正常,呼吸稍促,体格检查见颈部、腋下、四肢等部位散在肿物。入院后病情进展迅速,肿物明显增大、增多,左上肢肿物病理检查证实恶性横纹肌样瘤(Ⅳ期)。最终诊断原发颈部恶性横纹肌样瘤。生后第10天放弃治疗后患儿死亡。

We report the clinical characteristics of congenital malignant rhabdoid tumor(MRT)of the neck in a fetus.Prenatal ultrasound and MRI at 33^(+4) and 34 weeks gestation revealed a round solid mass on the right side of the fetus'neck.An initial differential diagnosis was between neuroblastoma and vascular malformation.Re-examination with ultrasound at 36 gestational weeks revealed an enlarged fetal neck mass,with concomitant multiple subcutaneous solid masses all over his body,right-side hydrothorax,and abnormal liver echo,which were highly suspicious of metastasis of a malignant tumor.The baby boy was delivered by cesarean section at 37 weeks of gestation with a normal Apgar score and slight shortness of breath.Physical examination showed scattered lesions in the neck,armpits,and limbs,etc.The condition of the infant deteriorated rapidly with the increasing number and volume of the masses after admission.The boy was confirmed as MRT(stageⅣ)by pathological biopsy on the left upper arm and died on postnatal day 10 after treatment was withdrawn.