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result(s) for
"Clear cell sarcoma of soft tissue (CCSST)"
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Detection of specific gene rearrangements by fluorescence in situ hybridization in 16 cases of clear cell sarcoma of soft tissue and 6 cases of clear cell sarcoma-like gastrointestinal tumor
by
Asanuma, Hiroko
,
Segawa, Keiko
,
Sugita, Shintaro
in
Activating transcription factor 1
,
Adenocarcinoma
,
Adult
2018
Background
Clear cell sarcoma of soft tissue (CCSST) and clear cell sarcoma-like gastrointestinal tumor (CCSLGT) are malignant mesenchymal tumors that share some pathological features, but they also have several different characteristics. They are well known to express chimeric fusions of Ewing sarcoma breakpoint region 1 (
EWSR1
) and cAMP response element-binding protein (
CREB
) family members; namely,
EWSR1-
activating transcription factor 1 (
ATF1
) and
EWSR1-CREB1
. In addition, recent studies have suggested the presence of other fusions.
Methods
We used fluorescence
in situ
hybridization to detect specific rearrangements including
EWSR1
,
ATF1
,
CREB1
, and cAMP response element modulator (
CREM
) in 16 CCSST and 6 CCSLGT cases. We also used reverse transcription polymerase chain reaction (RT-PCR) to detect specific chimeric fusions of
EWSR1-ATF1
and
EWSR1-CREB1
using fresh tumor samples in available cases.
Results
A total of 15 of 16 CCSST cases (93.8%) had
EWSR1
rearrangement, of which 11 (68.8%) also had
ATF1
rearrangement, suggestive of the presence of
EWSR1-ATF1
fusions. One CCSST case (6.3%) was found to have
EWSR1
and
CREM
rearrangements, and 4 of 6 CCSLGT cases (66.7%) had
EWSR1
rearrangement, of which 2 (33.3%) showed
ATF1
rearrangement and the other 2 cases (33.3%) showed
CREB1
rearrangement. These cases most likely had
EWSR1-ATF1
and
EWSR1-CREB1
fusions, respectively. RT-PCR was performed in 8 available cases, including 6 CCSSTs and 2 CCSLGTs. All CCSSTs showed
EWSR1-ATF1
fusions. Among the 2 CCSLGT cases, one had
EWSR1-ATF1
fusion and the other had
EWSR1-CREB1
fusion.
Conclusions
Rearrangements of
EWSR1
and
ATF1
or
EWSR1-ATF1
fusion were predominantly found in CCSST, whereas those of
EWSR1
and
CREB1
or
EWSR1-CREB1
tended to be detected in CCSLGT. A novel
CREM
fusion was also detected in a few cases of CCSST and CCSLGT. The cases in which
EWSR1
rearrangement was detected without definitive partner genes should be considered for the presence of
CREM
rearrangement.
Journal Article