McPherson Elizabeth, Cold Christopher, Johnson Peter, Schema Lynn, Zaleski Christina
Department of Medical Genetics, Marshfield Clinic, Marshfield, Wisconsin.
Am J Med Genet A. 2015 Jan;167A(1):246-9. doi: 10.1002/ajmg.a.36829. Epub 2014 Oct 22.
Although tumors are an occasional cause of neonatal death and have been reported in stillbirths, there are no studies specifically evaluating the frequency or types of tumors in stillborn infants. We observed metastatic neuroblastoma in a fetus miscarried at 17 weeks of gestational age. Fetal death was attributed to endocrine effects of the tumor causing fetal hypertension, arrhythmia, and/or placental dysfunction. This case, which is the earliest report of a pathologically confirmed neuroblastoma, prompted review of all tumors in the Wisconsin Stillbirth Service Program database. There were 10 lethal and two incidental tumors among the 2,786 stillbirths and second trimester miscarriages in the database for an overall incidence of 1/232, which is about 50 times the incidence of clinically recognized tumors in liveborn infants. The most frequent tumors were teratoma and hemangioma that, while benign, caused death due to high output cardiac failure, hemorrhage into the tumor, or obstruction of vital organs. Only three tumors were malignant, and except for the index case, mechanisms of death were similar to those of the benign tumors. Except for the index case, all were found in the third trimester, suggesting that congenital tumors rarely become lethal until the third trimester. However, it is also possible that tumors may be missed in younger fetuses. The possibility of detecting an unsuspected tumor is yet another reason for autopsy in stillbirths and late miscarriages.
虽然肿瘤是新生儿死亡的偶发原因，且有在死产中出现的报道，但尚无专门评估死产儿中肿瘤发生频率或类型的研究。我们在一名孕17周流产的胎儿中观察到转移性神经母细胞瘤。胎儿死亡归因于肿瘤的内分泌效应，导致胎儿高血压、心律失常和/或胎盘功能障碍。这例病例是经病理证实的神经母细胞瘤的最早报道，促使我们对威斯康星死产服务项目数据库中的所有肿瘤进行回顾。在该数据库的2786例死产和孕中期流产中，有10例致死性肿瘤和2例偶发性肿瘤，总发病率为1/232，约为活产儿中临床诊断肿瘤发病率的50倍。最常见的肿瘤是畸胎瘤和血管瘤，虽然是良性的，但因高输出量心力衰竭、肿瘤内出血或重要器官梗阻而导致死亡。只有3例肿瘤是恶性的，除了索引病例外，死亡机制与良性肿瘤相似。除索引病例外，所有肿瘤均在孕晚期发现，这表明先天性肿瘤在孕晚期之前很少致命。然而，也有可能在较年轻的胎儿中漏诊肿瘤。在死产和晚期流产中进行尸检的另一个原因是有可能发现未被怀疑的肿瘤。
