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CASE REPORT  
Year : 2011  |  Volume : 54  |  Issue : 2  |  Page : 362-364
Gastrointestinal stromal tumor with skeletal muscle, adrenal and cardiac metastases: An unusual occurrence


1 Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan
2 Department of Pathology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan

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Date of Web Publication27-May-2011
 

   Abstract 

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the bowel. It most commonly arises in the stomach, followed by the small intestine, colorectum and the esophagus. It usually spreads to the liver or the peritoneum, with bone and lung metastases being infrequent. Here, we present a case report of GIST behaving in a bizarre way. The patient presented with skeletal muscle metastasis and was initially misdiagnosed as leiomyosarcoma. On follow-up, he developed adrenal metastasis, and later, cardiac metastasis. None of the above unusual sites has previously been reported in literature to our knowledge.

Keywords: Gastrointestinal, metastasis, stromal tumor

How to cite this article:
Bashir U, Qureshi A, Khan HA, Uddin N. Gastrointestinal stromal tumor with skeletal muscle, adrenal and cardiac metastases: An unusual occurrence. Indian J Pathol Microbiol 2011;54:362-4

How to cite this URL:
Bashir U, Qureshi A, Khan HA, Uddin N. Gastrointestinal stromal tumor with skeletal muscle, adrenal and cardiac metastases: An unusual occurrence. Indian J Pathol Microbiol [serial online] 2011 [cited 2017 Nov 23];54:362-4. Available from: http://www.ijpmonline.org/text.asp?2011/54/2/362/81638



   Introduction Top


Gastrointestinal stromal tumors (GISTs) represent the most common mesenchymal tumors of the gastrointestinal (GI) tract and were considered as leiomyomas in the past. [1] The identification of C-KIT (CD 117), a tyrosine kinase receptor, has led to the identification of a separate entity. GISTs most commonly arise in the wall of stomach and frequently spread to the liver and peritoneum. We report a case of GIST in whom the disease manifested a peculiar, previously undocumented metastatic pattern. We believe that this is the first report of its kind as spread to the adrenals or the heart has not been reported so fa r. Additional possible ways in which GIST may behave should be considered.


   Case Report Top


A 56-year-old man was referred to our tertiary care center for further management of leiomyosarcoma of upper back skeletal muscle. Review of submitted slides supported the diagnosis. Specific immune staining for GIST was not done at that time. While on follow-up, the patient presented to the emergency department with a diagnosis of subacute intestinal obstruction. Barium meal studies were requested which showed partial obstruction within the proximal jejunum. The rest of the small bowel and stomach were unremarkable.

A computerized tomography (CT) scan performed consequently showed jejuno-jejunal intussusception with the culprit mass visible in the intussuscipiens. In addition, the right adrenal appeared suspicious for metastasis [Figure 1]a and b.
Figure 1: (a) CT scan image shows a telescoping segment of small bowel. Further down, a soft-tissue mass is appreciable inside the lumen. (b) The right adrenal is bulky and has lost its normal shape. The contralateral adrenal (not shown) was unremarkable

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Histopathologic Findings

The patient underwent laparotomy with resection of jejunal and adrenal masses. Histopathology revealed high-grade spindle cell neoplasm with moderate to severe nuclear pleomorphism, brisk mitotic activity with occasional cells showing prominent nucleoli. There was focal evidence of necrosis as well. The c-kit (CD 117) and actin immunohistochemical stains were performed which were positive in tumor cells in both jejunal and adrenal masses [Figure 2]a and b. Based on these findings, a diagnosis of malignant (high-risk) GIST was made. Because the histological appearance was similar to the tumor initially excised from back, c-kit was also performed on the old blocks which again showed positive staining in the tumor cells.
Figure 2: (a) GIST metastatic to adrenal gland. Infiltration of adrenal glands by the spindle-shaped neoplastic cells (H and E, ×400). (b) (inset): The c-kit stain positivity confirms the tumor to be a metastatic GIST (IHC, ×400). (c) GIST in cardiac muscle. Photomicrograph demonstrates cardiac muscle showing a cellular spindle cell tumor with haphazardly arranged cells (H and E, ×400). (d) The c-kit immunohistochemical stain shows positive brown cytoplasmic staining in tumor cells and negative staining in normal muscle (IHC, ×100)

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Having confirmed the diagnosis of GIST, the patient was started on imatinib and put on 6-monthly CT surveillance.

Development of Cardiac Metastasis

A year later, S4 gallop rhythm was noted on routine examination. Echocardiography revealed a mass inside the right atrium. The patient underwent open heart surgery with removal of the mass. Histopathology confirmed GIST metastasis [Figure 2]c and d. The dose of imatinib was raised to 800 mg daily considering progression of disease and the patient was scheduled for outpatient department follow-up.


   Discussion Top


GISTs are the most common mesenchymal tumors of the GI tract. Composed of non-epithelial cellular elements, these tumors are believed to arise from pacemaker interstitial cells of Cajal and are classically described as well-circumscribed exophytic masses arising from the subserosal surface of the GI tract. [1] In order of decreasing frequency, they occur in stomach (60-70%), the small intestine (20-30%), the colorectum (10%), and the esophagus (<5%). [2],[3]

As frequently quoted, these tumors were misdiagnosed as leiomyomas and leiomyosarcomas. Currently, positive immunohistochemical staining for KIT (CD 117; a tyrosine kinase receptor) is the histopathologic hallmark that differentiates them from the aforementioned tumors. [1],[4]

GISTs most frequently metastasize to the liver and peritoneum, with bone and lung metastases being uncommon sites. To our knowledge, GIST has not been known previously to spread to the skeletal muscle, cardiac muscle or adrenal. In retrospect, it seems probable that the jejunal mass resected after the initial skeletal mass may have been the primary which spread to involve the skeletal muscle, cardiac muscle and adrenal. The initial misdiagnosis as leiomyosarcoma was also because GIST has yet been unheard of metastasizing to skeletal muscle.

 
   References Top

1.Claudia M, Giulio R, Federica B, Riccardo V, Claudia C, Ivan R, et al. Incidence and clinicopathologic features of gastrointestinal stromal tumors: A population-based study. BMC Cancer 2007;7:230.   Back to cited text no. 1
    
2.Seiji S, Koji S, Masayuki M, Hidehiro W, Tadashi Y, Hiroshi M, et al. Pathologic complete response confirmed by surgical resection for liver metastases of gastrointestinal stromal tumor after treatment with imatinib mesylate. World J Gastroenterol 2008;14:3763-7.   Back to cited text no. 2
    
3.Brett H, Desmond Y, David G, Paul W, Victoria B, Guan C. Cerebral relapse of metastatic gastrointestinal stromal tumor during treatment with imatinib mesylate: Case report. BMC Cancer 2004;4:74.   Back to cited text no. 3
    
4.Martin EB, Jean-Yves B, Christopher C, Driman DK, Robert R, Denis S, et al. Gastrointestinal stromal tumours: Consensus statement on diagnosis and treatment. Can J Gastroenterol 2006;20:157-64.  Back to cited text no. 4
    

Top
Correspondence Address:
Asim Qureshi
Department of Pathology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, 7-A Block R-3, M.A. Johar Town, Lahore
Pakistan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.81638

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    Figures

  [Figure 1], [Figure 2]

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    Abstract
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