Transplantation of congenital primitive neuroectodermal tumor of fetus to the uterus of mother: application of biotin‐labeled chromosome‐specific probes

We report a 38-year-old gravida 3, para 3, white female with an unremarkable history and normal amniocentesis, who delivered a male infant with a large pedunculated and ulcerated tumor by vaginal delivery. A portion of the tumor was sheared and expelled with the normal placenta at the time of delivery. The biopsy of the infant mass and the expelled tissue showed histologic features of a small round cell tumor with immunohistochemical features of a primitive neuroectodermal tumor (PNET). The infant eventually died at the age of 4 weeks as a result of extensive dissemination of tumor. The mother had postpartum bleeding, and fractional dilation and curettage procedures at 6 weeks and 4 months after delivery revealed tumor similar to that of the infant. The mother underwent radical hysterectomy and bilateral salpingo-oophorectomy, which revealed a neoplasm at the junction of the lower uterine segment and cervix. Fluorescent in situ hybridization (FISH) study of both the infant’s tumor and the mother’s uterine tumor showed positivity for the Y chromosome by using a classical α-satellite Y chromosome-specific probe. These findings support the hypothesis that the tumor was transferred from the fetus to the mother.