Abstract

Molecular measurable residual disease can persist in core-binding factor acute myeloid leukemia in otherwise disease-free patients. Utilizing cell sorting followed by fluorescent in situ hybridization, we show that detection is due to mast cells.

1.
Faber
ZJ
,
Chen
X
,
Gedman
AL
, et al
.
The genomic landscape of core-binding factor acute myeloid leukemias
.
Nat Genet
.
2016
;
48
(
12
):
1551
-
1556
.
2.
Qin
W
,
Chen
X
,
Shen
HJ
, et al
.
Comprehensive mutation profile in acute myeloid leukemia patients with RUNX1-RUNX1T1 or CBFB-MYH11 fusions
.
Turk J Haematol
.
2022
;
39
(
2
):
84
-
93
.
3.
Liu
P
,
Liu
JP
,
Sun
SJ
, et al
.
CBFB-MYH11 fusion sequesters RUNX1 in cytoplasm to prevent DNMT3A recruitment to target genes in AML
.
Front Cell Dev Biol
.
2021
;
9
:
675424
.
4.
Beghini
A
.
Core binding factor leukemia: chromatin remodeling moves towards oncogenic transcription
.
Cancers (Basel)
.
2019
;
11
(
12
):
1973
.
5.
Downing
JR
.
The AML1-ETO chimaeric transcription factor in acute myeloid leukaemia: biology and clinical significance
.
Br J Haematol
.
1999
;
106
(
2
):
296
-
308
.
6.
Dong
ZMD
,
Ramakrishnan
A
,
Chauncey
TR
, et al
.
No adverse effect of residual neoplastic mast cells in systemic mastocytosis associated with acute myeloid leukemia with T(8;21)(Q22;Q22); Runx1-Runx1t1 after bone marrow transplantation
.
Ann Clin Pathol
.
2014
;
2
(
1
):
1009
.
7.
Hilmi
FAI
,
Al-Sabbagh
A
,
Soliman
DS
, et al
.
Acute myeloid leukemia with Inv(16)(p13q22) associated with hidden systemic mastocytosis: case report and review of literature
.
Clin Med Insights Blood Disord
.
2017
;
10
:
1179545x17700858
.
8.
Pullarkat
ST
,
Pullarkat
V
,
Lagoo
A
, et al
.
Characterization of bone marrow mast cells in acute myeloid leukemia with t(8;21) (q22;q22); RUNX1-RUNX1T1
.
Leuk Res
.
2013
;
37
(
11
):
1572
-
1575
.
9.
Pullarkat
V
,
Bedell
V
,
Kim
Y
, et al
.
Neoplastic mast cells in systemic mastocytosis associated with t(8;21) acute myeloid leukemia are derived from the leukemic clone
.
Leuk Res
.
2007
;
31
(
2
):
261
-
265
.
10.
Wang
YY
,
Zhou
GB
,
Yin
T
, et al
.
AML1-ETO and C-KIT mutation/overexpression in t(8;21) leukemia: implication in stepwise leukemogenesis and response to Gleevec
.
Proc Natl Acad Sci U S A
.
2005
;
102
(
4
):
1104
-
1109
.
11.
Xie
W
,
Wang
SA
,
Yin
CC
, et al
.
Acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 and KIT Exon 8 mutation is associated with characteristic mastocytosis and dismal outcomes
.
Exp Mol Pathol
.
2019
;
108
:
131
-
136
.
12.
Heuser
M
,
Freeman
SD
,
Ossenkoppele
GJ
, et al
.
2021 Update on MRD in acute myeloid leukemia: a consensus document from the European LeukemiaNet MRD Working Party
.
Blood
.
2021
;
138
(
26
):
2753
-
2767
.
13.
Escribano
L
,
Orfao
A
,
Díaz-Agustin
B
, et al
.
Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications
.
Blood
.
1998
;
91
(
8
):
2731
-
2736
.
14.
Metcalfe
DD
.
Mast cells and mastocytosis
.
Blood
.
2008
;
112
(
4
):
946
-
956
.
15.
Swerdlow
SH
,
Campo
E
,
Harris
NL
, et al
. Myeloproliferative neoplasms. In:
Swerdlow
SH
,
Campo
E
,
Harris
NL
, eds.
WHO classification of tumours of haematopoietic and lymphoid tissue
. 4th ed..
Lyon; International Agency for Research on Cancer
;
2008
.
16.
Carter
MC
,
Metcalfe
DD
,
Komarow
HD
.
Mastocytosis
.
Immunol Allergy Clin North Am
.
2014
;
34
(
1
):
181
-
196
.
17.
Cherian
S
,
McCullouch
V
,
Miller
V
,
Dougherty
K
,
Fromm
JR
,
Wood
BL
.
Expression of CD2 and CD25 on mast cell populations can be seen outside the setting of systemic mastocytosis
.
Cytometry B Clin Cytom
.
2016
;
90
(
4
):
387
-
392
.
You do not currently have access to this content.
Sign in via your Institution