ID #363 Concurrent Pineal Atypical Teratoid/Rhabdoid Tumor (ATRT) and extrarenal rhabdoid tumor of the liver in an infant case with a literature review
Alex Shohet, Ali Nael, Jordan Davies, John Crawford, Mariko SatoAbstract
Background
Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a markedly increased risk of developing multiple rhabdoid tumors, commonly in the brain and the kidney. These tumors occur predominantly in infants, and due to the rarity of RTPS, the standards for management are evolving. We present a case of the concurrent Pineal Atypical Teratoid/Rhabdoid Tumor (ATRT) and extrarenal rhabdoid tumor of the liver in a patient with Chromosome 22q11.2 distal deletion syndrome with a review of the literature.
Case report
A 3-week-old female infant presented with an enlarging head circumference. Imaging revealed a pineal region mass with obstructive hydrocephalus, and an additional hepatic mass was identified. An endoscopic third ventriculostomy with pineal mass biopsy and a liver mass needle biopsy were performed. Histopathology confirmed ATRT of the pineal mass and an extrarenal malignant rhabdoid tumor of the liver. Germline testing revealed 22q11.2 distal deletion syndrome. The patient was treated with high-dose chemotherapy with stem cell rescue and experienced an initial positive response; however, she died 14 months after diagnosis due to progressive disease.
Conclusion
There were 33 cases of concurrent ATRT and other malignant rhabdoid tumors reported in our literature review of 25 articles. Most common location for ATRT was cerebellum and or posterior fossa, seen in 8 cases. Pineal ATRT was documented in only three cases. 23 cases (70%) had involvement of renal tumors. We found only two other cases reported with ATRT and liver tumors, which supports the lack of a standard management.