Mesenteric gastrointestinal stromal tumour presenting as intracranial space occupying lesion
© Puri et al; licensee BioMed Central Ltd. 2006
Received: 24 June 2006
Accepted: 14 November 2006
Published: 14 November 2006
Gastrointestinal stromal tumours (GIST) usually present with non-specific gastrointestinal symptoms such as abdominal mass, pain, anorexia and bowel obstruction.
We report a case of a 42 year old male who presented with a solitary intracranial space occupying lesion which was established as a metastasis from a mesenteric tumour.
The patient was initially treated as a metastatic sarcoma, but a lack of response to chemotherapy prompted testing for CD117 which returned positive. A diagnosis of mesenteric GIST presenting as solitary brain metastasis was made, and the patient was treated with imatinib.
We recommend that all sarcomas with either an intraabdominal or unknown origin be routinely tested for CD117 to rule out GIST.
Gastrointestinal stromal tumours (GIST) are thought to arise from the interstitial cells of Cajal, the intestinal pacemaker cells . GIST commonly arises from the stomach and small intestine and usually presents with non-specific abdominal symptoms . GIST mostly metastasizes within the abdomen . To our knowledge, GIST presenting with brain metastasis has not been reported in the literature. We report a case of a 42 year old male who presented with a solitary intracranial space occupying lesion which was subsequently established to be a metastasis from a mesenteric GIST.
Gastrointestinal stromal tumours (GIST) are thought to arise from the interstitial cells of Cajal, the intestinal pacemaker cells . GIST most commonly arises from the stomach (60–70%) and small intestine (20–30%) with less than 10% arising from the rest of gastrointestinal tract (oesophagus, colon, rectum) or extraintestinal sites (omentum, mesentery, retroperitoneum) [2–4].
The clinical presentation of patients with GIST can vary depending on the tumour location, size and aggressiveness. Typically, patients present with non-specific gastrointestinal symptoms such as abdominal mass, pain, vomiting, anorexia and bowel obstruction. Rarely, patients may present with acute haemorrhage into peritoneal cavity from tumour rupture or cutaneous metastases [5, 6].
GIST mostly metastasizes within the abdomen. In one series of 83 patients , the common sites of metastases were to the liver (46%) and peritoneum (41%). Other sites of metastases reported in this series include the retroperitoneum, lung, bone and abdominal scar. Involvement of the central nervous system (CNS) by metastatic GIST is extremely rare. A review of the literature reveals only three reports of CNS involvement by GIST. In all cases, patients had known metastatic disease elsewhere prior to the development of CNS metastases. In one case , a 60-year-old male with diagnosed metastatic GIST developed sudden unilateral blindness that was found to be caused by metastatic involvement of the cavernous sinus. In the second case , a 47-year-old male who was being treated with imatinib for metastatic GIST developed multiple cerebral relapses even while systemic disease appeared to be controlled. In the third case , a 75-year-old male with multiple liver and peritoneal metastases developed a single intracranial lesion. In the third patient, all lesions including the intracranial lesion showed a good response to imatinib therapy.
In the present case, the patient had an unusual presentation as an intracranial metastasis. The patient was initially treated as a metastatic sarcoma from unknown primary due to the absence of extracranial disease on radiological workup. Even after the detection of the mesenteric primary, the patient was initially treated as a mesenteric sarcoma as histopathology showed a sarcoma which was positive for CD34 and vimentin antigen. The possibility of GIST was suspected only after the patient failed to respond to ifosfamide and epirubicin combination chemotherapy. As the immunohistochemisty returned positive for CD117 at this stage, the patient was treated with imatinib [11, 12]. A good initial treatment response was noted with imatinib, with a reduction in tumour size and the development of cystic changes in the tumour mass. However, the patient subsequently developed progressive disease and died.
The present report describes a unique presentation of GIST as intracranial metastasis. To the best of our knowledge, this is the first report of its kind in the literature. The true nature of disease remained obscure for a considerable duration; this delay could be attributed, in part to the atypical presentation and to the lack of routine testing for CD117. We recommend that all cases of sarcomas with an intraabdominal origin or unknown origin be routinely tested for CD117 to detect GIST as these tumours usually respond to imatinib.
Consent was taken from the patient's relatives for publication of this report.
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