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Tracing the development of acute myeloid leukemia in CBL syndrome.

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.

journal_name

Blood

journal_title

Blood

authors

Becker H,Yoshida K,Blagitko-Dorfs N,Claus R,Pantic M,Abdelkarim M,Niemöller C,Greil C,Hackanson B,Shiraishi Y,Chiba K,Tanaka H,Miyano S,Döhner K,Schnittger S,Henneke P,Niemeyer CM,Flotho C,Pfeifer D,Ogawa S,Lübber

doi

10.1182/blood-2013-10-533844

subject

Has Abstract

pub_date

2014-03-20 00:00:00

pages

1883-6

issue

12

eissn

0006-4971

issn

1528-0020

pii

blood-2013-10-533844

journal_volume

123

pub_type

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