Extragastrointestinal stromal tumor of the inferior vena cava: a case report
© The Author(s). 2017
Received: 10 December 2016
Accepted: 17 April 2017
Published: 19 April 2017
Here, we present a case report of a 60-year-old female with a 5-cm tumor in the inferior vena cava (IVC) that was positive for c-kit and CD34 expression. Thus, we considered this to be an extragastrointestinal c-kit-positive stromal tumor (EGIST). To the best of our knowledge, no primary EGISTs of the IVC have been described thus far. The potential occurrence of EGISTs outside the tubular gastrointestinal tract should be recognized in the differential diagnosis of tumors of the great vessels. Thus, we concluded that primary c-kit-positive stromal tumors of the IVC do indeed occur.
Tumors of the great vessels are rare, and the most common site of origin is the inferior vena cava (IVC). Although leiomyosarcoma (LMS) is the most common malignant tumor of the IVC, thus far, there has been no report of an extragastrointestinal c-kit-positive stromal tumor (EGIST) arising from the IVC. EGIST is a unique tumor that occurs outside the gastrointestinal tract with a positive c-kit expression and histological appearance similar to that of gastrointestinal stromal tumors (GISTs) [1, 2]. Here, we report on a case of IVC tumor positive for c-kit and CD34 expression which was considered EGIST.
GISTs were previously thought to be smooth muscle neoplasms, and most were classified as LMS. With the advent of immunohistochemistry and electron microscopy, it has become apparent that GISTs may have myogenic features, neural attributes, and characteristics of both muscle and nerve or may lack differentiation . Sarlomo-Rikala et al.  pointed out that the c-kit antibody is a useful marker for diagnosing GISTs and for distinguishing them from true leiomyomas and neurogenic tumors. c-kit over expression because of activating mutations appears to drive the neoplastic growth of GISTs [5–7]. GISTs most commonly occur in the stomach (52%), small intestine (25%), esophagus (5%), and large bowel (11%) . The most intriguing findings in the current study were the observation of a lesion that was located outside the gastrointestinal tract, primarily the mesentery, omentum, and retroperitoneum [1, 2], but fulfilled the histologic and immunohistochemical criteria for classification as GIST. EGIST is positive for c-kit expression, with histological appearance similar to GIST.
It is recognized that GIST cells exhibit characteristics similar to those of the interstitial cells of Cajal (ICC), the pacemaker cells of the gastrointestinal tract [9, 10]. Presence of an ICC system was reported in extragastrointestinal locations, guinea pig urinary bladder , guinea pig mesenteric arteries , sheep mesenteric lymphatic vessels , and fetal endothelial cells . Bolton et al. identified non-contractile cells closely resembling ICC in the wall of the portal vein and mesenteric artery using immunohistochemical approaches in combination with confocal imaging . Povstyan et al reported that two layers of ICC were detected by c-kit and methylene blue staining in the media of the rabbit portal vein in sub-endothelial intramuscular and deeper intramuscular positions . As per these reports, c-kit-positive stromal tumors can occur in extragastrointestinal anatomic sites, particularly in those that are embryologically linked to mesenchymal cells, similar to the vessels. In our resected specimen, immunohistochemical staining could not demonstrate the normal media wall of the IVC to be positive for c-kit expression. However, it was confirmed that there was a vascular tumor of ICC origin. EGIST of the IVC is a very rare kind of tumor, and there are no reports of EGIST arising from the IVC till date.
Tumors of the IVC are uncommon malignancies with a tendency for both local recurrence and systemic dissemination. Surgical resection remains the therapeutic gold standard for GISTs and LMS, and tumor resectability is an important prognostic factor. However, LMS arising in the intima has poorer prognosis than mural sarcomas because intimal origin is a source of widespread metastases. Additionally, seeding of the tumor to distant sites occurs earlier. In our case, adjuvant therapy was not administered because there was no evidence of metastases and recurrences and the tumor was originating from the media of the vessel wall. Although distinction between GIST and LMS is important, GIST might be effectively treated with tyrosine kinase inhibitors, such as imatinib mesylate [17, 18]. There is the possibility that GIST occurred in the present case, which was initially reported as LMS of the IVC because those were histologically classified together as LMS owing to their similarities as determined via light microscopy. The potential occurrence of GIST-like tumors outside the gastrointestinal tract should be recognized in the differential diagnosis of tumors of the great vessels.
We concluded that primary EGISTs of the IVC indeed occurred. However, the ultimate elucidation of the origin of vascular tumors resembling the tumor presented herein warrants future discovery and study of more vascular EGISTs.
The authors greatly appreciate Dr. Yoshihiko Sugiyama (Department of Pathology, Aizu Chuo Hospital) for his pathological diagnosis.
KK and KS drafted the manuscript. KK, KS, WS, and KH contributed to the case report conception and design. EU granted the final approval to the manuscript. All authors read and approved the final manuscript.
The authors declare that they have no competing interests.
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