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2015 ; 94
(3
): e393
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Perivascular epithelioid cell tumor of gastrointestinal tract: case report and
review of the literature
#MMPMID25621681
Lu B
; Wang C
; Zhang J
; Kuiper RP
; Song M
; Zhang X
; Song S
; Kessel AGV
; Iwamoto A
; Wang J
; Liu H
Medicine (Baltimore)
2015[Jan]; 94
(3
): e393
PMID25621681
show ga
Perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas) are
exceedingly rare, with only a limited number of published reports worldwide.
Given the scarcity of GI PEComas and their relatively short follow-up periods,
our current knowledge of their biologic behavior, molecular genetic alterations,
diagnostic criteria, and prognostic factors continues to be very limited.We
present 2 cases of GI PEComas, one of which showed an aggressive histologic
behavior that underwent multiple combined chemotherapies. We also review the
available English-language medical literature on GI PEComas-not otherwise
specified (PEComas-NOS) and discuss their clinicopathological and molecular
genetic features.Pathologic analyses including histomorphologic,
immunohistochemical, and ultrastructural studies were performed to evaluate the
clinicopathological features of GI PEComas, their diagnosis, and differential
diagnosis. Immunohistochemistry, semiquantitative reverse transcriptase
polymerase chain reaction, and DNA sequencing assays were carried out to detect
the potential molecular genetic alterations in our cases. Microscopically, the
tumors showed distinctive histologic features of PEComas-NOS, including
fascicular or nested architecture, epithelioid or spindled cell type, and clear
to eosinophilic cytoplasm. The tumor cells were immunohistochemically positive
for melanocytic markers. Molecular pathological assays confirmed a PSF-TFE3 gene
fusion in one of our cases. Furthermore, in this case microphthalmia-associated
transcription factor and its downstream genes were found to exhibit elevated
transcript levels.Knowledge about the molecular genetic alterations in GI PEComas
is still limited and warrants further study.