TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients. Group 3 and Group 4 harbored this alteration in <5 % of cases and showed no association wit

Alpha backgrounds in the AMoRE-Pilot experiment

© 2022, The Author(s).The Advanced Mo-based Rare process Experiment (AMoRE)-Pilot experiment is an initial phase of the AMoRE search for neutrinoless double beta decay of 100Mo, with the purpose of investigating the level and sources of backgrounds. Searches for neutrinoless double beta decay generally require ultimately low backgrounds. Surface α decays on the crystals themselves or nearby materials can deposit a continuum of energies that can be as high as the Q-value of the decay itself and may fall in the region of interest (ROI). To understand these background events, we studied backgrounds from radioactive contaminations internal to and on the surface of the crystals or nearby materials with Geant4-based Monte Carlo simulations. In this study, we report on the measured α energy spectra fitted with the corresponding simulated spectra for six crystal detectors, where sources of background contributions could be identified through high energy α peaks and continuum parts in the energy spectrum for both internal and surface contaminations. We determine the low-energy contributions from internal and surface α contaminations by extrapolating from the α background fitting model.11Nsciescopu