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2015 ; 2
(2
): 83-8
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Unusual Clinical Presentation of Gastrointestinal Clear Cell Sarcoma
#MMPMID26675070
Raskin GA
; Pozharisski KM
; Iyevleva AG
; Rikov IV
; Orlova RV
; Imyanitov EN
Gastrointest Tumors
2015[Sep]; 2
(2
): 83-8
PMID26675070
show ga
BACKGROUND: Use of molecular assays is gradually becoming a mandatory part of the
clinical management of soft tissue tumors, however the choice and the
interpretation of these tests may present a challenge. SUMMARY: This report
demonstrates an unusual presentation of sarcoma, which was initially diagnosed as
a tumor of unknown primary site. Given the presence of vimentin, Fli-1, CD99 and
S100 markers, lack of immunostaining for melan A, HMB45, MITF, synaptophysin,
CD56, myf4, CKAE1/3 and WT-1, as well as the presence of EWSR1 translocation
determined by a break-apart FISH assay, Ewing's sarcoma (ES) diagnosis seemed to
be well justified. However, polymerase chain reaction testing for ES-specific
rearrangements (EWSR1/FLI1, EWSR1/ERG, EWSR1/ETV1, EWSR1/ETV4, EWS/FEV) failed to
confirm the ES origin of the neoplastic tissue. We further considered clinical,
morphological, immunohistochemical and molecular diagnostic features of other
types of EWSR1-rearranged sarcomas and performed molecular testing for
gastrointestinal clear cell sarcoma. The polymerase chain reaction assay revealed
EWSR1ex7/ATF1ex5 fusion, thus confirming the latter diagnosis. Subsequent
high-precision computed tomography of the abdominal cavity revealed a 5-cm tumor
of the small bowel, which was subjected to surgical resection. KEY MESSAGE: This
report exemplifies that the use of anonymous cytogenetic assays, such as
break-apart FISH EWSR1 testing, may not be sufficient even in case of a perfect
match with relevant morphological and immunohistochemical tumor features.
PRACTICAL IMPLICATIONS: Explicit identification of the translocation gene
partners is indeed important for proper sarcoma diagnosis management.