A case of small bowel metastasis from spinal Ewing sarcoma causing intussusception in an adult female
© Tan et al. 2016
Received: 6 February 2015
Accepted: 24 March 2016
Published: 16 April 2016
Ewing sarcomas are highly aggressive malignant tumours occurring predominantly in the long bones of the extremities in children and young adults. About 20 % of patients will present with metastases at diagnosis with the commonest sites being the lungs, bone and bone marrow. Cases of primary small bowel Ewing sarcomas have been described but are nonetheless exceedingly rare, even more so cases of metastasis to the small bowel.
We describe a case of vertebral Ewing sarcoma in a 44 year-old female which metastasized to the jejunum causing intussusception.
Ewing’s sarcoma is highly aggressive and presence of metastases, overt or subclinical, is thought to be present in almost all patients at diagnosis. As evidenced by our patient, metastatic disease can progress rapidly to cause further complications and confer a poorer survival. The possibility of metastasis, no matter how rare or unlikely the site is, should be considered and actively investigated to expedite treatment of the primary disease.
Ewing sarcomas are rare small round cell tumours that arise predominantly in children and young adults with a slight male predilection [1, 4, 7]. Ewing sarcoma most often arises in the mid-shaft or diaphysis of the long bones of the extremities with the spine making up 8 % of primary sites . Approximately, 80 % of patients present with clinically localized disease although it is surmised that subclinical metastatic disease is present in almost all patients due to high relapse rates of 80 to 90 % in patients undergoing local therapy alone . Metastases are mostly found in the lungs, bone and bone marrow . Eight cases of primary small bowel Ewing sarcoma have been reported [8–10, 14]. One such case occurred in an 18-year-old male which was complicated by intussusception as well . Reports of metastasis of Ewing sarcoma to the small bowel are even fewer and far between. Capitini reported a case of left femur Ewing sarcoma metastasizing to the brain and small intestine after allogenic stem cell transplantation .
A previously well 44-year-old female presented with acute lower limb numbness and weakness of 1-day duration. Prior to this, she suffered from back pain for 2 weeks that gradually progressed to pain in both hips as well. There were no complaints of urinary or bowel incontinence. She did not experience any abdominal pain, distension, vomiting or constipation.
On examination, the patient had decreased sensation and power in the bilateral lower limbs and up-going plantar reflexes. Abdominal examination revealed no mass or distension. Bowel sounds were active. Anal tone was intact on digital rectal examination.
The patient made an uneventful recovery from surgery and was started on palliative chemotherapy. She eventually succumbed to progressive metastatic disease 16 months after her initial diagnosis.
The Ewing sarcoma family of tumors (ESFT) consists of Ewing sarcoma, peripheral primitive neuroectodermal tumor (PNET), extraosseous Ewing sarcoma (EES), and Askin’s tumor (Ewing sarcoma of the chest wall). ESFT tumours are of neural crest derivation that differentiate along a neuroendocrine lineage and are described as small round cell tumours. All ESFT tumours are characterized by a balanced chromosomal translocation between the 5ʹ half of the EWS gene (22q12) and the 3ʹ half of members of the ETS family of transcription factors, leading to the understanding that ESFT represents a single neoplastic entity .
Ewing sarcoma predominantly affects children and young adults with a peak incidence between 10 and 20 years of age. About 30 % occur in adults over the age of 20 and fewer than 5 % occur in adults over the age of 40 . Ewing sarcoma most often arises in the mid-shaft or diaphysis of the long bones of the extremities with the spine making up only 8 % of primary sites of Ewing sarcoma . Our patient, being a 44-year-old female adult, did not fit the typical profile of an Ewing sarcoma patient and was initially treated as spinal metastases from a yet undetermined primary. It was only on histopathological examination of the spinal tumour that the diagnosis of Ewing sarcoma was reached.
The presence of metastasis is the single most important factor in determining survival in ESFT patients. Patients with metastatic disease at diagnosis have a dismal 5-year survival rate varying from 0–25 %, compared with 40–79 % for those with localized disease [5, 7]. Chemotherapy is essential in the treatment of Ewing sarcoma because although approximately 80 % of patients present with clinically localized disease, subclinical metastatic disease is presumed to be present in almost all patients due to a 80–90 % relapse rate noted in patients who underwent local therapy alone . It is possible that our patient had occult metastases that continued to rapidly progress after excision of the primary tumour before commencement of systemic chemotherapy. Metastases are mostly found in the lungs (50 %), bone (25 %) and bone marrow (20 %) . Only eight cases of primary Ewing sarcoma of the small bowel have been reported [8–10, 14, 15], and metastasis of Ewing sarcoma to the small bowel is even rarer with Capitini reporting a case of a 26-year-old male with metastasis of left femur Ewing sarcoma to the small bowel and brain following allogenic stem cell transplantation.
Ewing’s sarcoma is a highly aggressive small round cell tumour that rarely arises in adults. The presence of metastases, overt or subclinical, is thought to be present in almost all patients at diagnosis and, as evidenced by our patient, can progress rapidly to cause further complications and confer a poorer survival. The possibility of metastasis, no matter how rare or unlikely the site is, should be considered and actively investigated to expedite treatment of the primary disease.
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