2 | CASE REPORT
We report a case of rapidly progressive synovial sarcoma with multiple
metastases. A 34-year-old young man complained of radiating pain in the
left lower extremity for 1 week. X-ray examination of the hip was
performed in another hospital and was misdiagnosed as lumbar disc
herniation. Later, in our hospital, the diagnosis was made of soft
tissue sarcoma of the left hip with pulmonary metastasis. We performed a
biopsy procedure on the patient. The postoperative pathology report was
poorly differentiated synovial sarcoma. Intussusception and liver
metastases were found 1 week after surgery, and then rapidly
deteriorated and died. We performed a high-throughput gene comparison
with 2 synovial sarcoma patients of the same age and type with good
prognosis. The study found that this patient had a significant genetic
mutation compared to patients with a good prognosis.
The patient was previously healthy, denied a history of chronic disease
and immune system disease, had no recent renovation of the house, and
had no radiation exposure. He denied history of smoking or drinking, but
stayed up late frequently. He denied any family history of cancer and
sarcoma.
The left hip soft tissue density increased on the X-ray before
admission, but it was relatively insidious and there was a significant
increase in soft tissue tension in the left hip. Admission laboratory
values revealed a anaemia with hemoglobin of 82 g/L and hypoalbuminemia
of 23.1 g/L, D-dimer 5.31mg/L. After admission, the patient’s first
fecal routine suggested occult blood positive. MRI showed multiple
irregular occupying tumor around the left hip with uneven mixed signals
and lobulation. CT demonstrated multiple solid nodules in the lungs
(Figure 1).
We performed biopsy for the patient. The postoperative pathological
results showed that the tumor was poorly differentiated synovial
sarcoma. Immunohistochemistry: Vimentin(+++), TLE1(+++), CD99(++),
WT-1(++), Bcl- 2(++) , CKpan(-) , CK7(-) ,EMA(-) , S-100(-) , STAT6(-) ,
CD34(-) , CD31(-) , ERG(-) , SMA(-) , Desmin(-) , CD117(-) , calponin(-)
, HBME-1(-) , calretinin(-) , ALK P80(-) ,
Ki-67(35%+)(Figure 2). One week
after the operation, the patient complained of unbearable abdominal
pain, and he underwent abdominal CT scan + enhancement. The results
showed that the ascending colon was unevenly thickened with
intussusception, and there were multiple round lesions in the liver.
After consultation with general surgery department, the patient was
considered to have surgical indications, and he was transferred to
general surgery department for continued treatment. Intestinal
obstruction catheter drainage was temporarily administered. After 4
days, the patient’s abdominal pain worsened again. His pulmonary and
liver nodules were significantly larger than 4 days ago, the progress
was rapid(Figure 3).
The patient’s family refused to undergo palliative bowel surgery, and
the patient died three days after the last CT scan, less than a month
from admission to death. In order to explore why the synovial sarcoma of
this patient progressed so rapidly, we selected two patients with
synovial sarcoma of the same age and gender with good prognosis as
controls, performed peripheral blood high-throughput genome sequencing,
and performed a preliminary comparative analysis of the results. The
results showed that this patient had more significant gene mutations
than the 2 patients with good prognosis. The Single Nucleotide
Polymorphisms(SNP) showed that the mutation types were mainly homozygous
mutations, and the number of mutations was significantly up-regulated in
each mutation type(Table 1). The visual scatter plot and volcano plot
showed that 820 and 822 genes were up-regulated, and 326 and 225 genes
were down-regulated, respectively. The patient and the two controls had
a significant intersection on the differential mutation catalog. GO and
KEGG results suggest that significantly enriched related pathological
pathways include tumor immune examination, transcriptional
dysregulation, osteoclast activity, antigen presentation, and T cell
function (Figure 4).