Infantile choriocarcinoma. Re-examination of a potentially curable entity

Abstract

Choriocarcinoma presenting in an infant or neonate is a rare entity that in the past has been uniformly fatal. The authors present the first reported case of choriocarcinoma successfully treated in a 3‐week‐old infant. Choriocarcinoma was not suspected in this case until pathologic examination revealed the diagnosis. In retrospect, however, the case fits well into the classic “infantile choriocarcinoma syndrome” initially described by Witzleben in 1968. Review of additional cases reported since the initial description validates Witzleben's initial observations and also indicates that the original definition should be broadened to include other significant presentations of the disease not initially appreciated, specifically anemic infants with central nervous system symptoms as well as newborns and older children. The importance of making a correct and rapid diagnosis is emphasized by the successful outcome in this case where aggressive surgery and subsequent chemotherapy have been curative. Serum beta‐human chorionic gonadotropin (β‐HCG) levels have been uniformly positive, providing easy confirmation of the diagnosis. Because the mother can also be affected, an appropriate diagnosis of the infant may also lead to more rapid diagnosis and treatment of the mother.

Infantile Choriocarcinoma of the Liver: Case Report and Review of the Literature

“…Signs and symptoms of precocious puberty could also be present, related to the elevated levels of B-HCG. Although not specific for choriocarcinoma, these findings are suggestive and demand a follow-up [3,14].…”

“…To our knowledge, there are 32 cases in the English literature and all the published 32 cases are case reports [1][2][3][4][5][6][7][8]. Infantile choriocarcinoma of the liver is an extremely rare tumor originating in the placenta during gestation and detected in the perinatal and early infancy period as a hepatic mass.…”

Unexplained anaemia and failure to thrive as initial symptoms of infantile choriocarcinoma: a review

“…Seven infants received combined modality treatment including a platinum-containing chemotherapy [5,6,14,15,16,32,33], in five of these patients a sustained remission was achieved by combining multiagent chemotherapy with delayed (4/5) [6,14,15,33] or primary tumour resection (1/5) [5]. One child suffered a relapse and died 37 months after diagnosis [16].…”

“…Of the 30 mothers, 12 were not affected by the disease [5,6,8,9,11,12,16,19,20,21,26,33] and in one case report there is no information on maternal disease status [32].…”

“…To the authors' knowledge, 30 different neonates and infants including two stillbirths affected by the disease have been reported in the literature [1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24,25,26,27,29,30,32,33,35,36]. The prognosis of affected children may be improved by early diagnosis and institution of the appropriate treatment, as demonstrated in five infants [5,6,14,15,33]. The aim of this review is to alert paediatricians seeing the children in an early stage of this rare and nowadays treatable disease.…”