ABSTRACT
Objective:
To investigate the clinicopathological and molecular features of primary cardiac
angiosarcoma (PCAS), and to analyze the correlation between KDR
mutation and the clinicopathological features of PCAS.
Methods:
Thirteen cases of PCAS were collected at
Beijing Anzhen
Hospital,
Capital Medical
University from January 2007 to December 2021. The clinicopathological features,
diagnosis, differential diagnosis and outcome were retrospectively analyzed. KDR
mutation was detected by
next-generation sequencing (NGS) and then the expression of KDR (VEGFR2) was determined by
immunohistochemistry (IHC), with
review of relevant
literatures.
Results:
There were eight
males and five
females with a mean age of 45 years. The primary
tumor was in the
right atrium in 10 cases,
left atrium in two cases and
right ventricle in one case. The histomorphology was mainly poorly differentiated
angiosarcoma (11 cases), with highly pleomorphic spindle or round
cells in solid sheets, brisk mitotic activity and extensive
necrosis. Vascular lumen formation was observed in two cases of high to moderate differentiation, and biphenotypic differentiation was seen in five cases. IHC
staining showed CD34, CD31, Fli1, ERG and
vimentin were diffusely positive, pan-
cytokeratin was positive, Ki-67 index ranged from 3% to 90%, which was positively correlated with the differentiation degree and grade of the PCASs (P<0.05). At the end of follow-up period, one
patient was alive, two
patients were
lost to follow-up, and the remaining 10
patients had an average
survival time of 4.6 months. Finally, NGS sequencing was performed on seven samples after
screening, and the results showed that KDR and NF1
mutations were both present in three cases. VEGFR2 expression had no significant correlation with the differentiation degree and grade of PCAS (P>0.05), and it was not related to KDR
mutation.
Conclusions:
PCASs mainly occur in the
right atrium, and are mainly poorly differentiated. Ki-67 index is helpful to assess the degree and grade of
tumor differentiation. The occurrence and development of PCAS may be related to the pathway involved in KDR
mutation, but KDR
mutation has no clear correlation with clinicopathological characteristics of PCAS, and immunohistochemical
staining can not replace
gene detection to determine whether the
tumor had KDR
mutation.