Insight into del17p low‐frequency subclones in chronic lymphocytic leukaemia (CLL): data from the Australasian Leukaemia and Lymphoma Group (ALLG)/CLL Australian Research Consortium (CLLARC) CLL5 trial

Do, Cuc; Best, O. Giles; Thurgood, Lauren A.; Hotinski, Anya K.; Apostolou, Sinoula; Mulligan, Stephen P.; Lower, Karen M.; Kuss, Bryone J.

doi:10.1111/bjh.17394

Cited by 2 publications

(1 citation statement)

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“…In this series 0.7% of p53 deficient cases were missed by NGS of which 8 cases had a del(17p) clone size of less than 25%. Also recent data showing low-frequency del(17p) sub clones (<25% of CLL cells) in the absence of a TP53 mutation has been demonstrated to mirror that of cases with no del(17p) in the chemoimmunotherapy setting ( 12 , 19 ). In the study by Do et al 15/20 (75%) patients demonstrated a low frequency subclone of del(17p) (<25)).…”

Section: Discussionmentioning

confidence: 92%

TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study

Catherwood

Wren²,

Chiecchio³

et al. 2022

Front. Oncol.

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Limited data exists to show the correlation of (tumour protein 53) TP53 mutation detected by Next generation sequencing (NGS) and the presence/absence of deletions of 17p13 detected by FISH. The study which is the largest series to date includes 2332 CLL patients referred for analysis of del(17p) by FISH and TP53 mutations by NGS before treatment. Using a 10% variant allele frequency (VAF) threshold, cases were segregated into high burden mutations (≥10%) and low burden mutations (<10%). TP53 aberrations (17p [del(17p)] and/or TP53 mutation) were detected in 320/2332 patients (13.7%). Using NGS analysis, 429 TP53 mutations were identified in 303 patients (13%). Of these 238 (79%) and 65 (21%) were cases with high burden and low burden mutations respectively. In our cohort, 2012 cases did not demonstrate a TP53 aberration (86.3%). A total of 159 cases showed TP53 mutations in the absence of del(17p) (49/159 with low burden TP53 mutations) and 144 cases had both TP53 mutation and del(17p) (16/144 with low burden mutations). Only 17/2332 (0.7%) cases demonstrated del(17p) with no TP53 mutation. Validated NGS protocols should be used in clinical decision making to avoid missing low-burden TP53 mutations and can detect the vast majority of TP53 aberrations.

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Section: Discussionmentioning

confidence: 92%