Large Jejunal Gastrointestinal Stromal Tumor Presenting as

Intestinal Obstruction: A Case Report

Dr. OMAR SULEIMAN, Dr. NAYEF AL ABEDALLAT
Abstract:
Gastrointestinal stromal tumors (GISTs) are rare. GISTs comprise 0.2% of
gastrointestinal tumors and only 0.04% of small intestinal tumors. Jejunal GISTs are the
rarest subtype. Recent advances in the identification of GISTs, its molecular and
immunohiostochemical basis, and its management, occurred over the last two decades
and GISTs are now known to be a rare gastrointestinal tract tumor with predictable
behavior and outcome.
We present a 65-year-old male, with history of DM and Hypertension, who presented
with symptoms and signs of small bowel obstruction (SBO), he had complained of vague
epigastric abdominal pain for 3 years, extensive investigations including blood tests,
OGD, colonoscopy and even a CT scan were requested and all investigations were
normal.
On his emergency presentation, an epigastric mass was palpable and CT scan identifies a
large 10*15 CM mass obstructing the small bowel. The patient had emergency
laparotomy and excision of the mass along with small bowel resection and primary end to
end anastomosis.
The patient had smooth post-operative recovery course and was discharged after 7 days
and commenced on imatinib for 3 years.
This case was reported due to the rare incidence of jejunal GISTs and to highlight the
challenges in diagnosing jejunal GISTs.

Introduction:
Gastrointestinal stromal tumor (GIST)are the most common mesenchymal neoplasms of
the GI tract despite the fact that they account for less than 1% of all GI tumors. They
arise from the interstitial cells of Cajal, which are part of the autonomic nervous system
of the intestine responsible for the pacemaker action of the peristalsis.
The incidence of GIST tumors is 1–2/10^5 population, and it is most common in the sixth
decade of life, GISTs arise usually from the muscularis mucosa or propria layers and
mostly have an endophytic pattern of growth.
Primary GIST is solitary rather than multiple. Throughout the whole length of the
gastrointestinal tract, GIST arises most commonly from the stomach (60–70%) followed
by small bowel (20–25%). Less frequent sites include the colon, rectum, esophagus and
appendix.
They usually present with non-specific symptoms. The most common symptoms are
abdominal pain, epigastric mass and GI bleeding. Tumors larger than 4 cm may present
as abdominal emergencies, including GI hemorrhage, usually due to pressure necrosis
and ulceration of the overlying mucosa, intestinal obstruction, or perforation. Perforations
are more common for GISTs of the small bowel compared to other anatomical sites
Morphologically GISTs can be classified into spindle cell type (70%), epithelioid type
(20%), and mixed type (10%). Grossly, GISTs are submucosal lesions that appear to arise
from the muscularis propria of the bowel wall. Intramural in origin, they often project
exophytic extraluminal and/or endophytic intraluminal, and they may have overlying
mucosal ulceration. Their size can be extremely variable, large GISTs nearly always
outgrow their vascular supply, leading to extensive areas of necrosis and hemorrhage.

Case Report:
A 65-year-old male with medical history of hypertension and diabetes mellitus,
previously surgically free, presented to the emergency department with diffuse abdominal
pain and distention, nausea, vomiting and constipation for 5 days.
On examination, his vital signs were normal and stable; afebrile and abdominal
examination showed distention, generalized tenderness, and a palpable epigastric mass,
absent bowel sounds and an empty rectum.
An abdominal X-ray revealed small bowel obstruction pattern, ultrasonography
examination revealed mass lesion with solid and cystic areas in the mesentery attached to
small intestine suggestive of mesenteric mass (? mesenteric cyst).
CT scan identifies a large 10*15 CM mass obstructing the small bowel with solid and
cystic components, with no evidence of distant metastasis.
The patient previously complained of vague epigastric abdominal pain for 3 years, and
extensive investigations including blood tests, OGD, colonoscopy and even a CT scan
were requested, and all investigations were normal on multiple occasions.
The patient had emergency laparotomy and excision of the mass along with small bowel
resection and primary end to end anastomosis. The excised segment included a 10-cm
length of jejunum.
On histopathological reports, the lesion was composed of areas of spindle and epithelioid
cells, and immunohistochemical analysis showed positive staining with CD117 consistent
with GIST arising from interstitial cells of cajal. No lymph nodes were involved.
The patient had smooth post-operative recovery course and was discharged after 7 days
and commenced on imatinib for 3 years due to large size of tumor which is a high risk for
recurrence.
Staging positron emission tomography (PET)–CT scan after 6 months showed no
evidence of recurrence.
Discussion:
Gastrointestinal stromal tumors (GISTs) are rare and pose a diagnostic challenge due to
the clinical characteristic of these tumors which allows them to grow to large sizes
without altering the general condition of the patient until late complications occur.
Clinical presentation of GIST is variable depending on tumor size and anatomical sites.
GISTs less than 2 cm in size are generally asymptomatic but larger GISTs present with
symptoms related to mass effect like upper abdominal pain, fullness, gastrointestinal
bleeding and palpable mass. In endophytic growth, tumor arising from muscularis
mucosa or muscularis propria of small intestine presents with intestinal obstruction or
bleeding. Exophytic tumors presents as a mass lesion or intestinal perforation.
GIST presenting as a small bowel obstruction is reported in less than 10% of cases.
Surgical resection with clear margin is the standard treatment for non-metastatic GIST
tumors. Routine lymph node resection is not recommended since they are rarely involved.
In our case, all the lymph nodes were free of tumor.
The diagnosis of the GISTs is largely histopathological. Immunohistological and
pathological tests are diagnostic when results are combined. Immunohistochemical assay
for CD117 antigen, an epitope of the KIT receptor tyrosine kinase, is the mainstay of
diagnosis. Approximately 95% are positive for CD117 antigens. However, false-positive
results may occur. The morphology of jejunal GISTs is varied: tumors may be composed
of spindle cells (70%), epithelioid cells (20%) or mixed spindle and epithelioid cells
(10%).
The prognostic factors indicating malignant potential of GIST include mitotic rate, tumor
size and location. Currently tumor less than or equal to 2 cm or with less than 5 mitosis
per 50 HPF are thought to have lower malignant and metastatic potential. GIST with
larger size (>10 cm in diameter) or with mitotic count >10/ 50 HPF and GIST with
diameter > 5 cm and 5 mitotic figure/ 50 HPF are considered at high risk for recurrence.
In our patient, a high-risk category was assumed, and the patient commenced on adjuvant
therapy with Imatinib for 3 years.
Targeted therapy with imatinib, a tyrosine kinase inhibitor has provided excellent results
for many patients with both resectable and unresectable GISTs

Conclusion:
Awareness of GIST as a distinct GI tract lesion is important for both a high level of
suspicion which is of diagnostic value and in managing these rare tumors that exhibit
preponderance for recurrence and to behave as malignant lesions.
Better understanding of the cell of origin and immunohistochemical markers has made
targeted therapy possible in GIST. Their treatment has been revolutionized with the
introduction of imatinib.
This case was reported due to the rare incidence of jejunal GISTs and to highlight the
challenges in diagnosing jejunal GISTs and to stress the fact that although obstruction
from GIST tumors of the small bowel is a rare occurrence, but should be considered in
the differential diagnosis when other causes are unlikely and a solid lesion is
demonstrated in the small bowel.