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Characterisation of children and adolescents with acute lymphoblastic leukaemia who presented without peripheral blood blasts at diagnosis.

ABSTRACT: Of 1003 children with acute lymphoblastic leukaemia (ALL), 147 (14.7%) presented without peripheral blood blasts (PBB). While absence of PBB was not independently associated with survival outcomes when compared to those with PBB, patients without PBB had distinct genetic and clinical characteristics. Notably, we identified a novel genotype-phenotype relationship, in that the patients without PBB had a significantly higher incidence of hyperdiploid B-ALL, accounting for almost half of all patients without PBB (46.9% vs. 22.7%, p < 0.001). Further, absence of PBB was associated with decreased rates of leukaemia involvement of the central nervous system (p < 0.001).

SUBMITTER: Mangum DS

PROVIDER: S-EPMC9852218 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Characterisation of children and adolescents with acute lymphoblastic leukaemia who presented without peripheral blood blasts at diagnosis.

Mangum David Spencer DS Bishop Johnathon D JD Zhou Yinmei Y Cheng Cheng C Karol Seth E SE Rubnitz Jeffrey E JE Ribeiro Raul C RC Yang Jun J JJ Mullighan Charles G CG Jeha Sima S Pui Ching-Hon CH Inaba Hiroto H

British journal of haematology 20221109 3

Of 1003 children with acute lymphoblastic leukaemia (ALL), 147 (14.7%) presented without peripheral blood blasts (PBB). While absence of PBB was not independently associated with survival outcomes when compared to those with PBB, patients without PBB had distinct genetic and clinical characteristics. Notably, we identified a novel genotype-phenotype relationship, in that the patients without PBB had a significantly higher incidence of hyperdiploid B-ALL, accounting for almost half of all patient ...[more]

PMID: 36352514

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