









































Pa
ge

 
1



Pa
ge

 
26

American Journal of  Medical 
Science and Innovation (AJMSI) 

Acute Jejunal Leiomyosarcoma: A Rare Case Study
Maryam Essa Alfard1*, Shriya Devendra Tayade2

Volume 2 Issue 2, Year 2023
ISSN: 2836-8509 (Online)

DOI: https://doi.org/10.54536/ajmsi.v2i2.1761
https://journals.e-palli.com/home/index.php/ajmsi

Article Information ABSTRACT

Received: June 16, 2023

Accepted: July 08, 2023

Published: July 17, 2023

The objective of  this study is to describe a particular case example of  small bowel 
leiomyosarcoma, which is characterized by an acute abdomen and signs and symptoms of  
intestinal obstruction. Sarcoma accounts for 1.2% of  gastrointestinal malignancies. It can 
present as an asymptomatic mass or with constitutional symptoms like GI upset, melena, 
weight loss, fatigue, and rarely intussusception and bowel obstruction. Early diagnosis is 
difficult due to unspecified symptoms and the slow growth of  the tumor. Surgical resection is 
still the preferred therapy. The case report was based on a 31-year-old gentleman hospitalized 
in the Emergency with severe abdominal aches, discomfort and nausea for 4 days. The 
patient had a significant unintentional weight loss for 1 month. A physical examination 
revealed epigastric and periumbilical tenderness. An immediate abdominal X-ray revealed 
several air-fluid levels, which indicate a minor intestinal obstruction in the core of  the 
abdomen. A subsequent CT scan further noted an ileoileal intussusception with intestinal 
obstruction. The decision was taken to proceed with a crucial exploratory laparotomy, 
which reported a 4x5 cm tumor in the jejunum with several enlarged mesenteric lymph 
nodes. The histopathology report showed a high-grade leiomyosarcoma with confirmatory 
immunological staining.

Keywords
Sarcoma, Leiomyosarcoma, 
Immunological Staining, 
Gastrointestinal Stromal 
Tumors

1 King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia Al Mathar Ash Shamali, Riyadh 11564, Saudi Arabia
2 Ras Al Khaimah Medical and Health Sciences University, Ras Al Khaimah, United Arab Emirates
* Corresponding author’s e-mail: maryamessa22@outlook.com

INTRODUCTION
Small intestine tumors are uncommon, comprising 
fewer than 5% of  all gastrointestinal malignancies and 
complications and have received relatively little attention. 
Recent studies show its increasing incidence, with 22.7 
million cases reported yearly (Luis, Ejtehadi, Howlett, & 
Donnellan, 2015). 
Most of  the sarcomas found in the gastrointestinal 
(GI) tract are presently categorized as gastrointestinal 
stromal tumors (GIST) that develop from the interstitial 
cell of  Caja (ICC); it can be either malignant or benign, 
identified by immunopositivity for CD117, CD34, and 
DOG1.1 (Akwari, Dozois, Weiland, & Beahrs, 1978; 
Barsouk, Rawla, Barsouk, & Thandra, 2019; Luis et 
al., 2015),(Guzel et al., 2016). When GIST was first 
recognized as a disease in the late 1990s, there was no 
clear distinction between it and leiomyosarcoma in the 
stomach stromal tumor family. (Garg, AlRajjal, Berri, & 
Barawi, 2020). Leiomyosarcomas (LMS)are tremendously 
rare because the World Health Organization has no 
authenticable data available for inference (Luis et al., 
2015). Ionizing radiation, Epstein Barr Virus and other 
chemical exposures have all been proposed as probable 
risk factors for LMS. Throughout the research of  different 
electronic databases and conference proceedings such as 
MEDLINE, EMBASE, Ovid Cochrane Central, Ovid 
Cochrane Database of  Systematic Reviews, Scopus, and 
Web of  Science were critical to distinguish GIST from 
LMS since tyrosine kinase inhibitors are used to treat GIST 
but are unsuccessful in LMS (A. T. Lee, Jones, & Huang, 
2019).  Such tumors can present as an asymptomatic mass 
or with constitutional symptoms like GI upset, melena, 

weight loss, fatigue and rarely intussusception and bowel 
obstruction. Early recognition is challenging because 
of  the tumor’s stagnating development and uncertain 
symptoms. (Barsouk et al., 2019; Luis et al., 2015), (Akwari 
et al., 1978), (Guzel et al., 2016) Surgical resection is still 
the preferred therapy (Akwari et al., 1978),(Guzel et al., 
2016). This study aims to illustrate a rare case example of  
small bowel leiomyosarcoma that manifested as an acute 
abdomen with signs and symptoms of  intestinal blockage.

Case Description 
An emergency medical visit for a 31-year-old male who 
had been experiencing significant abdomen pain and 
vomiting for four days prior to admission but had no 
history of  medical issues. Further questioning revealed 
he had unintentional weight loss and fatigue for 1 month. 
He also had an episode of  melena 1 month back and 
was diagnosed with a Mallory-Weiss tear on endoscopy. 
On presentation, the patient appeared to be in distress 
with stable vitals. When the abdomen was examined, the 
epigastrium and peritoneum were in discomfort, but there 
was no guarding, distension, lumps, or organomegaly. No 
peripheral lymphadenopathy was noted. Further analysis 
reported a hemoglobin level of  10.7 g/dL and C-reactive 
protein of  5.2 mg/L, with other routine investigations 
within the normal range. An abdomen X-ray showed 
multiple air-fluid levels (Figure 1) at the center of  the 
abdomen denoting small bowel obstruction. Subsequent 
CT abdomen was done urgently, showing evidence of  
ileoileal intussusception with intestinal obstruction and 
proximal bowel dilatation associated with minimal ascitic 
fluid collection (Figure 2). Bowel wall enhancement was 

https://doi.org/10.54536/ajmsi.v2i2.1761
https://journals.e-palli.com/home/index.php/ajmsi
mailto:maryamessa22@outlook.com


Pa
ge

 
27

https://journals.e-palli.com/home/index.php/ajmsi

Am. J. Med. Sci. Innov. 2(2) 26-30, 2023

Figure 1: Abdominal X-ray showing coglomerate air-
fluid levels

Figure 2: CT Abdomen Ileo-ileal intussusception- donut 
sign

Figure 3: Gross images of  the tumor showing 4×5 cm 
yellowish-grayish pedunculated polypoidal submucosal 
mass with ulcerated and necrotic surface outpouching 
from the antimesenteric border of  jejunum.

preserved. 
Imaging findings necessitated an emergency laparotomy 
which revealed a 4x5 cm polypoidal mass (Figure 3) 
located in the jejunum approximately 30 cm away from 
the duodenojejunal flexure (DJ flexure) that caused 
obstruction and subsequent intussusception with minimal 
ascites. In addition, multiple enlarged mesenteric lymph 
nodes were noted. No liver metastasis was seen. The rest 
of  the bowel was healthy. The bowel segment with the 
mass was resected, followed by side-to-side anastomosis, 
and the specimen was sent for histopathology.
The recovery time went tediously, and the patient was 

sent home without experiencing any serious issues. He 
was subsequently seen in the outpatient clinic and was 
noted to tolerate diet well with good surgical wound 
healing.
Subsequent histopathology reports suggested a highly 
cellular submucosal pedunculated malignant neoplasm 
arranged in intersecting fascicles and bundles with >20 
brisk mitoses per 10 high power fields (HPF) and zones of  
necrosis (Figure 4). Spindle cells with cigar-shaped nuclei 
and mild pleomorphism made up the tumor. Figures of  
unusual mitosis were also observed (Figure 5). There were 
found to be three reactive mesenteric lymph nodes. 

Figure 4: Histopathological slides showing A: Low power 
view of  the small intestine and submucosal cellular malignant 
neoplasm arranged in intersecting fascicles and bundles, B: 
High power view of  the tumor with areas of  necrosis, C: High 
power view of  atypical spindle cells with brisk mitosis 20> 
10/HPF, D: High power view of  brisk mitosis {arrows}

https://journals.e-palli.com/home/index.php/ajmsi


Pa
ge

 
28

https://journals.e-palli.com/home/index.php/ajmsi

Am. J. Med. Sci. Innov. 2(2) 26-30, 2023

Figure 5: Immunohistochemical testing showing A: 
Positive Desmin, B: Positive SMA, C: Negative CD117 & 
D: Negative CD34.

The patient was suggested to undergo a positron 
emission tomography (PET) and CT scan of  the whole 
body for staging. However, he could not be contacted 
after discharge and was lost to follow-up.

RESULT AND DISCUSSION
Sarcomas are responsible for 1.2% of  all gastrointestinal 
tumors (2, 3). Despite its rarity and being relatively 
uncommon, leiomyosarcoma is the second most prevalent 
type of  sarcoma to be identified in the GI tract, after 
GISTs, and is typically found in the jejunum, preceding 
ileum and duodenum. (Barsouk et al., 2019),(Akwari et al., 
1978),(Guzel et al., 2016). It commonly occurs in the 5th 
and 6th decades of  life and has a higher predilection of  
incidence in males compared to females with a ratio of  
3:1 (Barsouk et al., 2019),(Akwari et al., 1978). Common 
presentations include gastrointestinal bleeding due to 
ulceration of  the tumor, abdominal pain and sometimes, 
a palpable mass (Luis et al., 2015),(Barsouk et al., 
2019),(Akwari et al., 1978),(Guzel et al., 2016). Additionally, 
many patients exhibit numerous complications including 
appetite loss, anemia, exhaustion, and weight loss. 
(Barsouk et al., 2019),(Akwari et al., 1978),(Guzel et al., 
2016). Since they tend to grow extra luminal, symptoms 
of  obstruction usually present late, as seen in this case 
(Akwari et al., 1978). These tumors tend to commonly 
metastasize via hematogenous spread to the liver and 
lungs (Akwari et al., 1978), (Guzel et al., 2016), (Y. Lee, 
1983).  Metastasis via lymphatic and peritoneal spread is 
uncommon (Akwari et al., 1978),(Guzel et al., 2016),(Y. 
Lee, 1983). In this case, multiple enlarged mesenteric 
lymph nodes were seen with no liver metastasis. 
Though these tumors occur sporadically, research shows 
their association with a history of  retinoblastoma, 
Human Immunodeficiency Virus (HIV), Epstein-Barr 

virus (EBV), immunocompromised post-transplantation 
patients, and congenital immunodeficiency (Guzel et al., 
2016).
Acute symptoms of  intestinal obstruction are seen in less 
than 5% of  cases of  LMS and are due to tumor infiltration 
or malignant adhesions (Nagtegaal et al., 2020), (Ashoor 
& Barefah, 2020). Adults commonly experience intestinal 
blockage from intussusception induced on by small 
intestine tumors like lipoma or leiomyoma. (Nagtegaal 
et al., 2020). Moreover, intussusception, although rarely 
seen in smooth muscle tumors, is more commonly seen 
in tumors located in the ileum rather than the jejunum, as 
seen in this case where intussusception and subsequent 
obstruction were caused by the intraluminal component 
of  the tumor (Ashoor & Barefah, 2020),(Ahmed, 2020).
Several imaging modalities have been studied through 
Computed Tomography Colonoscopy (CTC), Magnetic 
Resonance Enterography (MRE), and Wireless Capsule 
Endoscopy (WRE), which have proven to detect small 
bowel tumors but have limited use in acute settings such 
as obstruction seen in this case (5),(Mazzotta et al., 2020). 
Computed Tomography (CT) scan has more advantages 
due to fast imaging results and low costs. In addition, 
it can also successfully locate metastases. However, In 
comparison to CT, magnetic resonance imaging (MRI) 
could be more capable of  detecting minor lesions and 
identifying cancers without the use of  ionizing radiation. 
Finally, positron emission tomography (PET) imaging 
can detect tumors based on their histological grade and 
innate metabolism. Thus, it cannot effectively identify 
low-grade tumors (Mazzotta et al., 2020).
However, imaging alone cannot differentiate benign and 
malignant intra-abdominal neoplasms, and diagnosis is 
often confirmed upon histological analysis, as seen in 
the present case (Guzel et al., 2016), (Ashoor & Barefah, 
2020), (Garg et al., 2020). The most important criterion 
for diagnosing leiomyosarcoma is the presence of  mitosis. 
Studies show that tumors having >5-10 mitoses/10 
HPF usually behave aggressively. Furthermore, the 
presence of  necrosis, atypical cells, and the size of  the 
tumor, especially if  >5 cm, determines the potential 
for metastasis. Currently, two grading systems, namely 
the FNCLCC and NCI systems, take the factors above-
mentioned into account to grade these tumors (Guzel et al., 
2016),(Garg et al., 2020). In the present case, histological 
examination revealed a high-grade leiomyosarcoma with 
>20 mitosis/10 HPF and necrosis, classifying the tumor 
as aggressive with a high potential for metastasis.
LMS and gastrointestinal stromal tumors (GISTs) appear 
morphologically similar, which makes it necessary to 
differentiate them due to markedly different treatment 
methods (Barsouk et al., 2019),(Y. Lee, 1983), (Garg et 
al., 2020). In the late 1990s, definitive techniques were 
released to distinguish LMSs from GISTs. Smooth 
muscle actin, desmin, and caldesmon are smooth muscle 
cell markers that are positive in LMSs but negative for 
CD34 and tyrosine kinase c-kit (CD117), whereas GISTs 
are regularly CD34 immunoreactive and exude CD117 

https://journals.e-palli.com/home/index.php/ajmsi


Pa
ge

 
29

https://journals.e-palli.com/home/index.php/ajmsi

Am. J. Med. Sci. Innov. 2(2) 26-30, 2023

receptor activity. These two pathological entities differ 
in immunohistochemical (IHC) and clinicopathological 
profiles. However, CD117 testing may be negative 
in 4-5 percent of  GISTs (Mazzotta et al., 2020). On 
immunohistological staining, LMS can be distinguished 
from GISTs by the absence of  CD117 (c-KIT), DOG1, 
CD34, and the detection of  smooth muscle actin (SMA), 
desmin and h-caldesmon (Luis et al., 2015),(Barsouk et al., 
2019),(Y. Lee, 1983),(Garg et al., 2020). As immunohistology 
became more popular, many previously diagnosed LMS 
were identified as GISTs, further proving the rarity of  
these tumors (Y. Lee, 1983),(Nagtegaal et al., 2020),(Garg 
et al., 2020). In this case, immunohistochemistry showed 
immunopositivity for SMA and desmin without CD117 
and CD34, confirming the diagnosis of  leiomyosarcoma. 
Furthermore, three reactive lymph nodes were noted 
on the mesentery’s resected section, highlighting an 
unusually aggressive tumor with a high potential for 
systemic dissemination (Ahmed, 2020).
Less than 2% of  all leiomyosarcomas are smooth muscle 
sarcomas affecting major arteries. The IVC is the most 
usually damaged vascular structure (35-60% of  the cases). 
Nonetheless, several occurrences of  GSV in the lower 
extremities have been observed (Tresgallo-Parés et al., 
2021). Adjuvant chemotherapy can be explored in high-risk 
patients to lower the risk of  local recurrence and improve 
survival rates, even if  it is not universally acknowledged 
as the standard therapeutic plan for the postoperative 
care of  adult patients with LMS (Gamboa, Gronchi, & 
Cardona, 2020). Treatment of  leiomyosarcoma revolves 
around surgical excision of  the tumor, and in this case, 
the patient had undergone an emergency laparotomy 
(Akwari et al., 1978), (Guzel et al., 2016), (Ashoor & 
Barefah, 2020), (Ahmed, 2020), (Garg et al., 2020), (Abou 
El Joud & Abbasi, 2022). Multiple enlarged mesenteric 
lymph nodes were noted around the jejunal tumor during 
surgery. Metastasis to regional lymph nodes is rarely seen 
in leiomyosarcoma (Y. Lee, 1983) 7, (Ahmed, 2020), 10, 
12). As the role of  routine lymph node dissection is 
controversial, it was not performed in this case (Y. Lee, 
1983), (Ashoor & Barefah, 2020), 8). Current data shows 
that GI LMS have low sensitivity to chemotherapy and 
are resistant to radiotherapy (Guzel et al., 2016), (Ashoor 
& Barefah, 2020), (Mazzotta et al., 2020)). As a result, 
patients are regularly followed up after complete surgical 
excision of  the tumor with periodical imaging (Guzel et 
al., 2016), (Mazzotta et al., 2020). Overall, these tumors 
have a poor prognosis, with a 5-year survival rate of  
∼27% (Abou El Joud & Abbasi, 2022).

Clinical Significance
To combat disease progression, full surgical resection 
with negative margins remains the gold standard and 
should be pursued. Patients who have tumors that are 
limited to the submucosa and are not candidates for 
surgery may choose to seek endoscopic resection. The 
relevance of  chemotherapy and radiation therapy is 
unclear at the moment, with a national cancer network 

advising anthracycline-based chemotherapy for soft tissue 
sarcomas but no specific recommendations for LMS. An 
agreement on the best course of  treatment for this rare 
and potentially aggressive cancer requires more study.

CONCLUSION
Jejunal leiomyosarcoma is an uncommon cancer with a 
weak prediction. Due to its non-specific symptoms, it is 
often diagnosed late with a high incidence of  metastasis. 
An unusual presentation of  jejunal leiomyosarcoma is 
intussusception and consequent obstruction, especially 
in an emergency. It is essential to differentiate LMS 
from GISTs through immunohistological testing due to 
its differing treatment modalities. Definitive treatment 
remains surgical resection of  the tumor.

Ethical Approval
The research was ethically approved by the research 
committee of  the Dubai health authority patient lost to 
follow-up and traveled back to his country.

Ethical Consent
Informed ethical consent was attained from the patient.

Acknowledgment
None

Funding
This study is not funded by any organization.

REFERENCES
Abou El Joud, K., & Abbasi, M. (2022). Lower Extremity 

Varicose Veins: An Unusual Presentation of  Small 
Bowel Leiomyosarcoma. Gastrointestinal tumors, 9(1), 
1-4. 

Ahmed, M. (2020). Gastrointestinal neuroendocrine 
tumors in 2020. World journal of  gastrointestinal oncology, 
12(8), 791. 

Akwari, O. E., Dozois, R. R., Weiland, L. H., & Beahrs, 
O. H. (1978). Leiomyosarcoma of  the small and large 
bowel. Cancer, 42(3), 1375-1384. 

Ashoor, A. A., & Barefah, G. (2020). Unusual presentation 
of  a large GIST in an extraintestinal site: a challenging 
diagnosis dilemma. BMJ Case Reports CP, 13(2), 
e229839. 

Barsouk, A., Rawla, P., Barsouk, A., & Thandra, K. 
C. (2019). Epidemiology of  cancers of  the small 
intestine: trends, risk factors, and prevention. Medical 
Sciences, 7(3), 46. 

Gamboa, A. C., Gronchi, A., & Cardona, K. (2020). Soft‐
tissue sarcoma in adults: an update on the current 
state of  histiotype‐specific management in an era of  
personalized medicine. CA: a cancer journal for clinicians, 
70(3), 200-229. 

Garg, R., AlRajjal, A., Berri, R., & Barawi, M. (2020). 
Primary gastric leiomyosarcoma: A case report and 
review of  the literature. Journal of  Gastrointestinal 
Cancer, 51(1), 335-340. 

https://journals.e-palli.com/home/index.php/ajmsi


Pa
ge

 
30

https://journals.e-palli.com/home/index.php/ajmsi

Am. J. Med. Sci. Innov. 2(2) 26-30, 2023

Guzel, T., Mech, K., Mazurkiewicz, M., Dąbrowski, B., 
Lech, G., Chaber, A., & Słodkowski, M. (2016). A very 
rare case of  a small bowel leiomyosarcoma leading to 
ileocaecal intussusception treated with a laparoscopic 
resection: a case report and a literature review. World 
Journal of  Surgical Oncology, 14(1), 1-7. 

Lee, A. T., Jones, R. L., & Huang, P. H. (2019). Pazopanib 
in advanced soft tissue sarcomas. Signal transduction and 
targeted therapy, 4(1), 1-10. 

Lee, Y. (1983). Leiomyosarcoma of  the gastro-intestinal 
tract: general pattern of  metastasis and recurrence. 
Cancer treatment reviews, 10(2), 91-101. 

Luis, J., Ejtehadi, F., Howlett, D. C., & Donnellan, I. M. 
(2015). Leiomyosarcoma of  the small bowel: Report 
of  a case and review of  the literature. International 

journal of  surgery case reports, 6, 51-54. 
Mazzotta, E., Lauricella, S., Carannante, F., Mascianà, 

G., Caricato, M., & Capolupo, G. T. (2020). Ileo-
ileal intussusception caused by small bowel 
leiomyosarcoma: a rare case report. International journal 
of  surgery case reports, 72, 52-55. 

Nagtegaal, I. D., Odze, R. D., Klimstra, D., Paradis, V., 
Rugge, M., Schirmacher, P., . . . Cree, I. A. (2020). The 
2019 WHO classification of  tumours of  the digestive 
system. Histopathology, 76(2), 182. 

Tresgallo-Parés, R., De Virgilio-Salgado, L., Torres-Lugo, 
N. J., Asenjo-Molina, N. A., Ramirez, N., & Bibiloni-
Rodríguez, J. (2021). Primary leiomyosarcoma of  
the great saphenous vein: A case report. International 
journal of  surgery case reports, 88, 106565. 

https://journals.e-palli.com/home/index.php/ajmsi

