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Distinctive genotypes in infants with T-cell acute lymphoblastic leukaemia.

Authors :
Mansur MB
van Delft FW
Colman SM
Furness CL
Gibson J
Emerenciano M
Kempski H
Clappier E
Cave H
Soulier J
Pombo-de-Oliveira MS
Greaves M
Ford AM
Source :
British journal of haematology [Br J Haematol] 2015 Nov; Vol. 171 (4), pp. 574-84. Date of Electronic Publication: 2015 Jul 24.
Publication Year :
2015

Abstract

Infant T-cell acute lymphoblastic leukaemia (iT-ALL) is a very rare and poorly defined entity with a poor prognosis. We assembled a unique series of 13 infants with T-ALL, which allowed us to identify genotypic abnormalities and to investigate prenatal origins. Matched samples (diagnosis/remission) were analysed by single nucleotide polymorphism-array to identify genomic losses and gains. In three cases, we identified a recurrent somatic deletion on chromosome 3. These losses result in the complete deletion of MLF1 and have not previously been described in T-ALL. We observed two cases with an 11p13 deletion (LMO2-related), one of which also harboured a deletion of RB1. Another case presented a large 11q14·1-11q23·2 deletion that included ATM and only five patients (38%) showed deletions of CDKN2A/B. Four cases showed NOTCH1 mutations; in one case FBXW7 was the sole mutation and three cases showed alterations in PTEN. KMT2A rearrangements (KMT2A-r) were detected in three out of 13 cases. For three patients, mutations and copy number alterations (including deletion of PTEN) could be backtracked to birth using neonatal blood spot DNA, demonstrating an in utero origin. Overall, our data indicates that iT-ALL has a diverse but distinctive profile of genotypic abnormalities when compared to T-ALL in older children and adults.<br /> (© 2015 The Authors. British Journal of Haematology published by John Wiley & Sons Ltd.)

Details

Language :
English
ISSN :
1365-2141
Volume :
171
Issue :
4
Database :
MEDLINE
Journal :
British journal of haematology
Publication Type :
Academic Journal
Accession number :
26205622
Full Text :
https://doi.org/10.1111/bjh.13613