Clinicopathological features of three patients with TTYH1::C19MC fusion and one patient with DICER1 mutation

Pt Gender Age NGS results LIN28A IHC Site OP Adjuvant F-U dur Last MRI
1 F 4 months TTYH1::C19MC
C19MC amp (×7)
+ 4th ventricle NTR CTx 3.4 months Multiple seeding, hydrocephalus
2 M 9 months TTYH1::C19MC
C19MC amp (×5)
+ Midline posterior fossa STR CTx 9.8 months Multiple seeding, hydrocephalus
3 F 2 years TTYH1::C19MC
C19MC amp (×7)
+ Pineal gland STR CTx 13.7 months Multiple seeding, hydrocephalus
4 M 30 years DICER1 (splicing c.5365-2A>G & D1709E c.5127T>A) + Rt. CPA GTR RT to Rt. CPA (30 Gy)+CTx (VCP #1) 8.0 months Multiple seeding, hydrocephalus
Exp Neurobiol 2023;32:354~361 https://doi.org/10.5607/en23021
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