|Year : 2020 | Volume
| Issue : 3 | Page : 117-120
Primary Ewing's sarcoma of the jejunum presenting as sepsis
Hsiang-Jung Chen, Hong-Ming Chao, Junn-Liang Chang, Yen-Lin Chen, Chih-Chien Yen
Division of General Surgery, Department of Surgery, Armed Forces Taoyuan General Hospital, Taoyuan, Taiwan
|Date of Submission||25-Nov-2019|
|Date of Decision||27-Dec-2019|
|Date of Acceptance||19-Mar-2020|
|Date of Web Publication||30-May-2020|
Dr. Hsiang-Jung Chen
Department of Surgery, Armed Forces Taoyuan General Hospital, Number 168, Jhonsing Road, Longtan Township, Taoyuan Country 32551
Source of Support: None, Conflict of Interest: None
Extraosseous Ewing's sarcoma (ES), also referred to as extraskeletal ES, is a rare tumor of primitive cells that occurs in children, adolescents, and young adults. This tumor mainly involves the soft tissue of the extremities and thorax. We report a case of extraskeletal ES of the jejunum without associated skeletal location. A 26-year-old woman with no medical history presented to the emergency department with a 3-day history of a fever along with nausea, vomiting, and abdominal pain. An abdominal contrast computed tomography scan revealed a homogeneous bowel mass size 8.5 cm × 4.3 cm × 6.1 cm in the lower abdomen with invasion of the ileum is noted. Extraluminal free air and abscess formation size 10.6 cm × 5.2 cm × 8.3 cm is noted, suggestive of bowel perforation. After the surgery, the specimen was sent to the pathology department for examination. We received one segmental jejunum (25 cm in length and 6 cm in diameter of the lumen) that weighed 450 g in total. Sections revealed an ill-ulcerative mass measuring 6 cm × 4 cm × 0.5 cm with gray-to-brown coloration and extensive necrosis with perforation; the mass was located 15 and 7 cm in length from the bilateral cut ends. In addition, focal vascular proliferation, and infiltrate deeply to the serosa with mesenteric enlarged lymph nodes were observed. Furthermore, the mesenteric regional lymph nodes show metastatic sarcoma. The definitive diagnosis was based on the findings of histomorphology, immunohistochemistry, and molecular pathology.
Keywords: Extraskeletal Ewing's sarcoma, jejunum, small bowel
|How to cite this article:|
Chen HJ, Chao HM, Chang JL, Chen YL, Yen CC. Primary Ewing's sarcoma of the jejunum presenting as sepsis. Formos J Surg 2020;53:117-20
|How to cite this URL:|
Chen HJ, Chao HM, Chang JL, Chen YL, Yen CC. Primary Ewing's sarcoma of the jejunum presenting as sepsis. Formos J Surg [serial online] 2020 [cited 2020 Jul 5];53:117-20. Available from: http://www.e-fjs.org/text.asp?2020/53/3/117/285395
| Introduction|| |
Ewing's sarcomas (ESs) are highly aggressive malignant tumors that occur predominantly in the long bones of the extremities in children and young adults. Approximately 20% of patients present with metastases at diagnosis, with the most common sites being the lungs, bone, and bone marrow.
Primary ES of the jejunum is a very rare presentation of the ES family of tumors (ESFTs) of extraosseous origin.
These two tumors have been grouped into a class of cancers entitled ESFT, all of which demonstrate this translocation.
ES is a rare tumor of primitive cells that is mainly located in the spine and chest wall, lower extremities, and retroperitoneum. These cases have also been documented in the pancreas, vagina, rectovaginal septum, prostate, ovaries, esophagus, kidney, and stomach. Cases of small bowel extraskeletal ES has also been reported.
Here, we describe a case of jejunal extraskeletal ES because of its rare occurrence in emergency medicine. Case reports of duodenal, rectal, and abdominal ES can be found in the literature; however, to our knowledge, this is the first case of primary jejunal ES in Taiwan.
Furthermore, because this case presented as sepsis with acute abdomen, the diagnosis of extraskeletal ES was challenging when evaluating small bowel tumors.
| Case Report|| |
A 26-year-old woman with no medical history presented to an urgent care facility with a 3-day history of fever, nausea, vomiting, and abdominal pain. Laboratory examinations shows leukocytosis (white blood cell: 25,500) and elevated C-reactive protein (46) were noted, vital sign shows blood pressure: 80/62 mm Hg, breathing: 22 breaths per minute, and pulse: 142 beats per minute. When the patient's symptoms worsened, she was referred to a gastroenterologist. The patient appeared uncomfortable on physical examination, with mild abdominal distension and hypoactive bowel sounds with unstable vital signs.
An abdominal contrast computed tomography (CT) scan [Figure 1] revealed a jejunal tumor. The patient underwent exploratory laparotomy that revealed a jejunum 40 cm from the Treitz's ligament. (i) Gross inspection of the resected specimen showed a fungating, ulcerating, and obstructing tumor of the jejunum. (ii) H and E jejunal tumor. (iii) The histological diagnosis was ES with high nuclear material with rosettes and sheets of small round blue cells (iv).
|Figure 1: Jejunum 40 cm from the Treitz's ligament (i) fungating, ulcerating, and obstructing tumor (ii) H and E jejunal tumor (iii) high nuclear material; rosettes and sheets of small, round blue cells (iv) immunohistochemistry cluster of differentiation 99 + and membranous expression of cluster of differentiation 99, MIC2, or single-chain type-1 glycoprotein (v) fluorescence in situ hybridization using dual-color probes for the EWSR1 region (orange) and FLI1 region (green). These Ewing's tumor cells demonstrate a fused gene (one red and one green signal pattern). EWSR1 (22q12) gene rearrangement (vi)|
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Immunoperoxidase stains revealed membranous expressions of cluster of differentiation 99 (CD99), CD99/MIC2 (Microneme protein 2) (is Ewing's Sarcoma Marker) Ab-1 (clone HO36-1.1), MIC2 is strongly expressed on Ewing's sarcoma cells and primitive peripheral neuroectodermal tumors. (v) Flow cytometry immunophenotype revealed CD45 (−)/CD56 (+) cells that ruled out hematolymphoid origin, and fluorescence in situ hybridization (FISH) showed an Ewing sarcoma breakpoint region 1 (EWSR1) (22q12) gene rearrangement for Diagnosis in Ewing Family Tumors EWSR1. The Ewing's family of tumors (EFTs) are characterized by chimeric transcripts generated by specific chromosomal rearrangements. The most common fusions are between the EWSR1 gene on chromosome 22 and the ETS family of transcription factors; rarely, FUS (on chromosome 16) substitutes for EWSR1. The detection of specific translocations using molecular analysis is now a routine part of the pathological examination of EFT. (vi) Subsequent bone scans and positron-emission tomography examinations failed to demonstrate any osseous primary sources or other sites of metastasis.
| Discussion|| |
ES was first discovered by James Ewing in 1921 as a diffuse endothelioma of the bone. ESFT includes ES of the bone. Extraosseous ES is also referred to as extraskeletal ES, primitive neuroectodermal tumor, peripheral neuroepithelioma, Askin's tumor (ES of the chest wall), and atypical ES. In 90% of cases, ESFT is found in patients aged between 5 and 25 years. After 25 years of age, ESFT is exceptionally rare, demonstrating aggressive behavior and frequent recurrence. Signs and symptoms of ESFT may mimic infection with mild-to-intense pain, swelling, abdominal bloating, altered stool frequency, form or passage (straining and/or urgency) issues, fever with no known origin, fatigue, or unexplained weight loss. Metastasis to the spine may cause unexplained weakness or paralysis or an idiopathic break in a bone, while metastasis to the lungs results in breathlessness. Dickinson et al. found a prevalence of 0.2 cases/million inhabitants.
In microscopic appearance contain immunohistochemistry (IHC)/molecular features; the subheading is misleading. Immunoperoxidase stains revealed membranous expressions of CD99, MIC2, or single-chain type-1 glycoprotein positive marker for ES. For differentiating Lymphoblastic Lymphoma and ES, immunohistochemical demonstration of the MIC2 gene product (CD99) occasionally in several other types of sarcoma, and in some neuroendocrine tumors and evaluation of a wider panel of differentiation markers is mandatory to avoid this, rather than the distinct membranous staining typical of primitive neuroectodermal tumour-ES.
Ewing's tumor cells demonstrate a fused gene (one red and one green signal pattern). EWSR1 (22q12) gene rearrangement.
In ES, translocation occurs between chromosomes 11 and 22, and it is referred to as t (11;22). The new fused gene is called EWS/FLI. Histologically, ES is composed of small, round cells that is rich in glycogen, and the neuroepithelial differentiation is in the form of a pseudorosette. The neuroendocrine phenotype is confirmed by immune positivity to CD99 and to insulinoma-associated protein 1 is a sensitive and highly specific marker of neuroendocrine differentiation in primary lung neoplasms for differential diagnosis small lung cell carcinoma and S100 to a lesser extent because these are also found in a number of other small cell tumors. Treatment is surgery combined with chemotherapy and high-dose radiotherapy to obtain a favorable outcome with a low incidence of recurrence.
Immunohistochemical staining is essential for differentiating among various subtypes. FISH is required to confirm EWSR1 translocations of the EWSR1 gene. Localized disease is treated with surgical resection, preferably before chemotherapy, based on the IESS-III study. Alternate courses of vincristine, cyclophosphamide, and doxorubicin with courses of ifosfamide/etoposide are the preferred chemotherapy treatments. These tumors carry a poor prognosis regardless of surgical or chemotherapeutic management. The 5-year survival rates are 25% for metastatic or recurrent disease and 70%–80% for nonmetastatic disease, with an 80%–90% relapse rate for patient who undergoes local therapy alone. Thus, it is essential to confirm a pathological diagnosis for prompt treatment to prevent metastases and improve the individuals with ES.
| Conclusion|| |
Extraskeletal ESs are a group of malignant tumors with a poor prognosis. The 5-year survival rate was 70% for localized tumors and 20%–30% for metastatic tumors (with a better rate if it is only spread to lungs). Other factors that affected prognosis were size of tumor, location of the main tumor, tumor's response to chemotherapy, and age.
The diagnosis of extraskeletal ES is challenging when evaluating small bowel tumors. Examination of H- and E-stained sections is the gold standard; however, IHC and cytogenetic analysis are essential for the diagnosis of extraskeletal ES. This case with a presentation of sepsis and acute abdomen with a diagnosis of extraskeletal ES was very challenging when evaluating small bowel tumors.
I am thankful to our group and pathologists for all of the reviews and useful comments on the diagnosis of this disease.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest
| References|| |
Esiashvili N, Goodman M, Marcus RB Jr. Changes in incidence and survival of Ewing sarcoma patients over the past 3 decades: Surveillance Epidemiology and End Results data. J Pediatr Hematol Oncol 2008;30: 425-30.
Minniti A, Jougon J, Barone M, Belleannee G, Velly JF. A case of extraskeletal Ewing_s sarcoma of the thoracic wall. G Chir 2000;21:450-2.
Movahedi-Lankarani S, Hruban RH, Westra WH, Klimstra DS. Primitive neuroectodermal tumors of the pancreas: A report of seven cases of a rare neoplasm. Am J Surg Pathol 2002;26:1040-7.
Farley J, O'Boyle JD, Heaton J, Remmenga S. Extraosseous Ewing sarcoma of the vagina. Obstet Gynecol 2000;96:832-4.
Petkovic M, Zamolo G, Muhvic D, Coklo M, Stifter S, Antulov R. The first report of extraosseous Ewing's sarcoma in the rectovaginal septum. Tumori 2002;88:345-6.
Colecchia M, Dagrada G, Poliani PL, Messina A, Pilotti S. Primary primitive peripheral neuroectodermal tumor of the prostate. Immunophenotypic and molecular study of a case. Arch Pathol Lab Med 2003;127:E190-3.
Kawauchi S, Fukuda T, Miyamoto S, Yoshioka J, Shirahama S, Saito T, et al
. Peripheral primitive neuroectodermal tumor of the ovary confirmed by CD99 immunostaining, karyotypic analysis, and RT-PCR for EWS/FLI-1 chimeric mRNA. Am J Surg Pathol 1998;22:1417-22.
Maesawa C, Iijima S, Sato N, Yoshinori N, Suzuki M, Tarusawa M, et al
. Esophageal extraskeletal Ewing's sarcoma. Hum Pathol 2002;33:130-2.
Jimenez RE, Folpe AL, Lapham RL, Ro JY, O'Shea PA, Weiss SW, et al
. Primary Ewing's sarcoma/primitive neuroectodermal tumor of the kidney: A clinicopathologic and immunohistochemical analysis of 11 cases. Am J Surg Pathol 2002;26:320-7.
Czekalla R, Fuchs M, Stolzle A, Nerlich A, Poremba C, Schaefer KL, et al
. Peripheral primitive neuroectodermal tumor of the stomach in a 14-year-old boy: A case report. Eur J Gastroenterol Hepatol 2004;16:1391-400.
Adair A, Harris SA, Coppen MJ, Hurley PR. Extraskeletal Ewings sarcoma of the small bowel: Case report and literature review. J R Coll Surg Edinb 2001; 46: 372-374.
Dickinson J, Watts AC, Robb JE. Extraosseous Ewing's sarcoma. J Bone Joint surg 2009;91-B (suppl II):215.