TITLE:
Bladder Malignant Granular Cell Tumor with EP300 Gene Mutation: A Case Report and Literature Review
AUTHORS:
Di Zhu, Xinle Ren, Yi Luo, Bing Huang, Jian Huang
KEYWORDS:
Malignant Granular Cell Tumor, Bladder, Histopathology, EP300, Next-Generation High Throughput Sequencing
JOURNAL NAME:
Journal of Cancer Therapy,
Vol.12 No.5,
May
14,
2021
ABSTRACT: Background: Malignant granular cell tumor (GCT) is extremely
rare. Malignant GCT with EP300 gene mutation in the bladder has not been
reported in the literature. Case Presentation: We report a special case of 45-year-old female with malignant GCT of the
bladder. Pathological examination showed that the mass was 11 × 11 × 4.5 cm in size,
involved in the bladder’s posterior wall. Under the microscope, the tumor cells
were arranged in the shape of a nest or cord to infiltrate the bladder’s wall.
The tumor cells were pleomorphic, red-stained granular within the cytoplasm,
with increased nuclear/cytoplasmic ratio,
vacuolar nuclei, and obvious nucleoli. The tumor cells were showed obvious nuclear atypia, and the mitosis was
more than 5/50HPF. Coagulative necrosis was widely showed within the
tumor. Immunohistochemistry (IHC) showed
that S-100, NSE, CD68, CR, α-AT, and
TFE-3 were strongly positive, and the
Ki-67 proliferation index was around 15%. The next-generation high throughput sequencing indicated that EP300
gene was missense mutated (c.457A > G) with 33% mutation abundance, and
genes of DPYD (c.1627A > G), ERCC1 (c.354T > C), NQO1 (c.559C > T), TPMT
(c.719A > G) and XRCC1 (c.1196A > G) were polymorphic mutated. The patient
died after three months of the second surgical treatment. Conclusions: We report for the first time a primary bladder malignant
GCM accompanied by mutations in special driving genes such as EP300. We also conducted
a comprehensive literature review and an in-depth discussion.