Desmoid-type fibromatosis in splenic hilum with rupture of lienal artery aneurism in a 17-year-old male
Journal
Open Journal of Clinical and Medical Case Reports
Date Issued
2023-04
Author(s)
Abstract
Desmoid Fibromatosis (DF) is locally aggressive benign fibroblastic or myofibroblastic tumor with no me-
tastatic potential, but has high recurrence rate. The symptoms vary according to tumor location, abdominal
or extra-abdominal. In this study we present a case of a 17-year-old male with intraabdominal bleeding due
to rupture of lienal artery aneurism in splenic hilum where desmoid fibromatosis was found. From abdo-
minal cavity 3L free blood was evacuated. Immunohistochemistry revealed nuclear positivity for β-catenin
stain favoring the diagnosis of desmoid type fibromatosis. Some of the cells showed SMA positivity, while
CD34, S100 and CD117 were negative. Additional molecular analysis from 3 ml peripheral blood was made
by NGS showing intergenic variant on position 51549496 with frequency of 46,4% which is highly pathoge-
nic. Intraabdominal fibromatosis has very unpredictable outcome when diagnosed incidentally. Molecular
analysis should reveal more genetic alterations in publishing these case presentations.
tastatic potential, but has high recurrence rate. The symptoms vary according to tumor location, abdominal
or extra-abdominal. In this study we present a case of a 17-year-old male with intraabdominal bleeding due
to rupture of lienal artery aneurism in splenic hilum where desmoid fibromatosis was found. From abdo-
minal cavity 3L free blood was evacuated. Immunohistochemistry revealed nuclear positivity for β-catenin
stain favoring the diagnosis of desmoid type fibromatosis. Some of the cells showed SMA positivity, while
CD34, S100 and CD117 were negative. Additional molecular analysis from 3 ml peripheral blood was made
by NGS showing intergenic variant on position 51549496 with frequency of 46,4% which is highly pathoge-
nic. Intraabdominal fibromatosis has very unpredictable outcome when diagnosed incidentally. Molecular
analysis should reveal more genetic alterations in publishing these case presentations.
File(s)![Thumbnail Image]()
Loading...
Name
OJCMCR-2003.pdf
Size
1.19 MB
Format
Adobe PDF
Checksum
(MD5):969ac8a7f0db0df4429d22393ba9e7db