Article
PEST domain NOTCH mutations confer a poor relapse free survival in pediatric T-ALL: Data from a tertiary care centre in India.
Blood cells, molecules & diseases - 1 May 2020
Bhatia Prateek, Totadri Sidharth, Singh Minu, Sharma Praveen, Trehan Amita, Bansal Deepak, Jain Richa, Varma Neelam, Sachdeva Manupdesh S, Patra Nilamani
Abstract excerpt
A comprehensive genotype-phenotype analysis of pediatric T-ALL data was performed. 33 confirmed pediatric (≤12 y) T-ALL samples were evaluated for oncogenic transcripts: TLX-1, TLX-3, common fusion of STIL-TAL1, NOTCH1 mutations and copy number variations (CNVs). Mean WBC was 235.69 × 103/μL. TLX1 and TLX-3 overexpression detected in 1 (3%) and 7 (21%) patients and STIL-TAL1 in 8 (27%). NOTCH1 mutations were...
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