Malignant rhabdoid tumour of the neck in a neonate

Abstract

Fetal neck masses are rare, and present a challenge antenatally, during delivery and in making a diagnosis. In this report, we detail the presentation of a neonate with a neck mass diagnosed in the third trimester. The baby was delivered by ex utero intrapartum therapy (EXIT). Investigations sent included an MRI with limited CT cuts, and a biopsy, which lead to the diagnosis of a malignant rhabdoid tumour. This is rare and the overall survival is low.

Congenital Malignant Rhabdoid Tumor of Neck

“…In view of large tumor extending into the middle cranial fossa and rapid clinical deterioration, surgery was not considered. [ 5 ]…”

Fetal-onset malignant rhabdoid tumor: a case report

“…In previous studies, metastatic lesions were already present at birth in all 14 patients diagnosed with MRT in utero, wherein 13 patients died within a few days of birth, and although the remaining one patient with an AT/RT survived for 13 months, severe mental retardation and residual brain tumor lesions were evident [3,14,15]. In the case reported by Tergestina et al in which the fetus was also delivered by EXIT, the infant survived birth but died of tumor lysis syndrome after 4 days [15]. This case suggests that MRT is even more fatal when it arises in utero, as noted in our patient.…”

“…According to a systematic review, the neonatal survival rate of 72 patients with MRT that appeared in utero or during the neonatal period was 9.7% [3]. In previous studies, metastatic lesions were already present at birth in all 14 patients diagnosed with MRT in utero, wherein 13 patients died within a few days of birth, and although the remaining one patient with an AT/RT survived for 13 months, severe mental retardation and residual brain tumor lesions were evident [3,14,15]. In the case reported by Tergestina et al in which the fetus was also delivered by EXIT, the infant survived birth but died of tumor lysis syndrome after 4 days [15].…”

A case of malignant rhabdoid tumor mimicking yolk sac tumor

“…The morphology and SALL4 and glypican 3 immunoreactivity of the MRT in our patient were suggestive of YST, and that complicated the diagnosis. MRTs that mimicked YST have not been previously reported, but MRTs with YST differentiation or AFP‐positive MRTs have been reported . AFP is expressed in immature cells such as embryonal hepatoblasts or yolk sac cells.…”