Acta Neuropathologica: On-screen tube tumor CDKN2A deficiency with RELA change prompts poor prognosis: retrospective analysis of the HIT chamber tube membrane tumor test queue.

ReLA-EP is considered a unique new tumor entity in children with reLA-EP.
fusion between C11orf95 and RELA activates pathologically the NF-B signaling path caused by the nuclear build-up of p65-RelA.
CDKN2A deficiency, which encodes the negative cell cycle regulation factor p16, has been described in a subset of the on-screen tube membrane tumor, suggesting that it is related to the prognosis difference.
, the frequency and prognosmation effects of CDKN2A deficiency in 54 PATIENT-EP patients treated under the HIT2000-E program were evaluated.
method: High-resolution genome-wide copy scores using molecular reversal probe (MIP) technology.
found chromosomal fractures in the C11orf95 and RELA genes corresponding to fusion transcripts.
all cases showed p65-RelA pathological nuclear build-up, which is the marker of RELA-EP.
(16.7%) of the 54 cases detected CDKN2A purity deficiency (complete deficiency), of which 8 (88.9%) p16 protein was completely missing.
in one case, few tumor cells expressed p16 proteins, suggesting that CDKN2A allogens were retained in a single cell.
summary: The absence/inactivation of CDKN2A may lead to pathological activation of 4/6 of the cell cycle protein-dependent kinases, which can be targeted by specific inhibitors such as paloxib.
therefore, CDKN2A insanity in RELA chamber tumours may be a potential therapeutic target.
J?nger, S.T., Andreiuolo, F., Mynarek, M. et al. CDKN2A deletion in supratentorial ependymoma with RELA ALTERATIONs a dismal prognosis: a retrospective analysis of the HIT ependymoma trial cohort. Acta Neuropathol (2020). Source: MedSci Originals!-- Content Show Ends -- !-- Determines whether or not the login ends.