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Tracing the development of acute myeloid leukemia in CBL syndrome.

Authors :
Becker, Heiko
Kenichi Yoshida
Blagitko-Dorfs, Nadja
Claus, Rainer
Pantic, Milena
Abdelkarim, Mahmoud
Niemöller, Christoph
Greil, Christine
Hackanson, Björn
Yuichi Shiraishi
Kenichi Chiba
Hiroko Tanaka
Satoru Miyano
Döhner, Konstanze
Schnittger, Susanne
Henneke, Philipp
Niemeyer, Charlotte M.
Flotho, Christian
Pfeifer, Dietmar
Ogawa, Seishi
Source :
Blood. 3/20/2014, Vol. 123 Issue 12, p1883-1886. 4p.
Publication Year :
2014

Abstract

We describe the development of acute myeloid leukemia (AML) in an adult with CBL syndrome caused by a heterozygous de novo germline mutation in CBL codon D390. In the AML bone marrow, the mutated CBL allele was homozygous after copy number-neutral loss-of-heterozygosity and amplified through a chromosomal gain; moreover, an inv(16)(p13q22) and, as assessed by whole-exome sequencing, 12 gene mutations (eg, in CAND1, NID2, PTPRT, DOCK6) were additionally acquired. During complete remission of the AML, in the presence of normal blood counts, the hematopoiesis stably maintained the homozygous CBL mutation, which is reminiscent of the situation in children with CBL syndrome and transient juvenile myelomonocytic leukemia. No additional mutations were identified by whole-exome sequencing in granulocytes during complete remission. The study highlights the development of AML in an adult with CBL syndrome and, more generally, in genetically aberrant but clinically inconspicuous hematopoiesis. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00064971
Volume :
123
Issue :
12
Database :
Academic Search Index
Journal :
Blood
Publication Type :
Academic Journal
Accession number :
95211851
Full Text :
https://doi.org/10.1182/blood-2013-10-533844