Yoshino Kiyoshi, Takeuchi Makoto, Nakayama Masahiro, Suehara Noriyuki
Department of Obstetric, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Fetal Diagn Ther. 2005 Jul-Aug;20(4):291-5. doi: 10.1159/000085088.
To describe a huge congenital cervical rhabdomyosarcoma.
We were recently confronted with a case of fetal solid neck mass arising in one fetus of a twin pregnancy. Prenatally, the cervical tumor was consistent with teratoma, but it was diagnosed histologically as a rhabdomyosarcoma. Genetic amniocentesis showed a mosaic pattern consisting of 46,XY/46,XY,t(2;8)(q35;q21.2).
EXIT procedure was proposed to the parents but declined. The twin with huge cervical tumor died in utero at 35 weeks' gestation due to hydrops fetalis.
Fetal cervical rhabdomyosarcoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck mass.
描述一例巨大先天性颈部横纹肌肉瘤。
我们最近遇到一例双胎妊娠中一个胎儿出现的胎儿颈部实性肿块病例。产前,颈部肿瘤被诊断为畸胎瘤,但组织学诊断为横纹肌肉瘤。基因羊膜穿刺术显示为46,XY/46,XY,t(2;8)(q35;q21.2)的嵌合型。
向患儿父母提出EXIT手术,但被拒绝。患有巨大颈部肿瘤的双胎之一在妊娠35周时因胎儿水肿死于宫内。
胎儿颈部横纹肌肉瘤是一种极为罕见的疾病,此前未见报道,但在胎儿颈部实性肿块的表现中应予以考虑。