Two cases of pineal anlage tumor with molecular analysis.
Kathryn P ScherpelzErin E CrottyVera A PaulsonChristina M LockwoodSarah E S LearyRichard G EllenbogenAmy LeeRalph P ErmoianNicholas A VitanzaBonnie L ColePublished in: Pediatric blood & cancer (2022)
Pineal anlage tumor is a rare pediatric tumor with clinical and histological features overlapping with pineoblastoma. Two patients with pineal anlage tumor, a 13-month-old female and an 11-month-old male, underwent subtotal resection, high-dose chemotherapy with autologous stem cell rescue, and radiation. Neither had tumor progression 50 months after diagnosis. The tumors underwent next-generation sequencing on a panel of 340 genes. Chromosomal copy gains and losses were present and differed between the tumors. No mutations or amplifications, including none specific to pineoblastoma, were identified.