Spontaneous perforation of jejunal gastrintestinal stromal tumour (gist). Case report and review of literature
© Roy et al.; licensee BioMed Central Ltd. 2012
Received: 24 August 2012
Accepted: 13 November 2012
Published: 29 November 2012
GIST is the commonest mesenchymal tumour of the gastrointestinal tract. Jejunal GIST is rare and spontaneous perforation of asymptomatic jejunal GIST is unique. A review of the English literature reveals only fifteen cases of perforated GIST till date. Pre-operative diagnosis is difficult. Diagnosis is confirmed on histopathology and immuno-histochemistry. Complete removal with postoperative imatinib therapy entails optimal treatment. Perforated GIST is associated with high recurrence.
Table showing published case reports on jejunal perforation
Date of publication
Journal of gastro-intetinal and liver diseases
66 yrs/ M
Journal of Chinese oncology
69 yrs/ M
Turkish journal of gastroenterology
70 yrs/ M
52 yrs / F
Journal of abdominal emergency medicine
56 yrs/ M
International journal of gastroentrology
69 yrs/ M
World journal of surgical oncology
28 yrs/ F
Turkish journal of gastroenterology
65 yrs/ M
International journal of biomedical research
68 yrs / M
Bombay hospital journal
55 yrs/ M
Turkish journal of gastroenterology
45 yrs/ M
journal of current surgery
56 yrs/ M
Journal of clinical and analytical medicne
61 yrs/ F
The internet journal of surgery
35 yrs/ M
Indian journal of surgery
22 yrs/ M
Forty six year old male presented to the emergency department with pain epigastrium, constipation, nausea, vomiting, fever and abdominal distension since two days. He had a past history of acid peptic disorder for which he was treated conservatively. On physical examination, patient was conscious and of normal built. Pallor, cyanosis, icterus and edema were absent. He was normotensive (124/70 mmHg), had tachycardia (110/min), fever (102.4°F) and hurried respiration (25/min). Abdominal examination revealed distension, board like rigidity, marked rebound tenderness, absent liver dullness and inaudible bowel sounds. Hernia sites were normal. Per-rectal examination did not reveal any significant abnormality. Examinations of other systems were within normal limits. A provisional diagnosis of peptic perforation was made.
Exploratory laparotomy was planned. Hematological examination revealed mild anemic with neutophilic leucocytosis [Hemoglobin – 9.8 g/dl, Total count- 14,000/cu.mm (N85, L11, E10, B0, M0)]. Blood sugar (113 g/dl), liver function tests and serum electrolytes (Na-136 meq/lit, K- 4.2 meq/lit) were within normal limits. Viral markers were non-reactive. Abdominal roentgenogram showed free gas under both domes of diaphragm with diffuse ground glass opacity. Excessive gas in the abdomen with free fluid was noted in abdominal sonography.
Post operative period was uneventful and the patient was discharged on the tenth post-op day after stitch removal.
The patient is on six months follow-up receiving oral imatinib 300 mg twice a day.
GIST was first described by Mazor and Clark (1983). It originates from the interstitial cells of Cajal (ICC), located in the muscularis propria (myenteric plexus) responsible for triggering smooth muscle contraction[2, 3]. The basic pathology is an activating mutation (gain in function) of chromosome 4 which codes for c-Kit resulting in uncontrolled proliferation of stem cells that differentiate towards ICC. GIST is sporadic. Familial forms with autosomal dominant inheritance have also been documented[3, 4].
Isolated reports of GIST occurring concomitantly with paraganglioma, pulmonary chondroma, nerofibromatosis, pancreatic neuro-endocrine tumours, burkitt’s lymphoma, osteosarcoma, neuroblastoma and melanoma have been documented.
90% of GIST occurs in adults more than 40 years of age (median age 63 years). There is slight male preponderance. No documented elements indicating any association with geographic location, ethnicity, race or occupation has been elucidated[4, 5].
The commonest site of GIST is stomach (60-70%)[2, 3]. Jejunum accounts for 10% of all GI tract GIST’s[1, 3]. Sporadic reports of GISTs arising from the omentum, mesentery or retroperitoneum, have been documented but most of these are metastatic from gastric or intestinal primaries. Extra-GIST has been reported in gall bladder, pancreas, liver and urinary bladder.
Presentation is erratic. Seventy percent are symptomatic at presentation, 20% are asymptomatic and 10% are detected at autopsy[5, 6]. Common presentations include abdominal pain, palpable mass, gastro intestinal bleeding, fever, anorexia, weight loss and anaemia. Isolated jejunal GIST associated with perforation and peritonitis is a rare and unique.
Perforation is usually attributed to replacement of bowel wall by tumour cells, tumour embolization leading to ischemia, necrosis together with raised intra-luminal pressure[4, 5, 7]. In view of the exophytic nature of the growth, intestinal obstruction occurs due to compression rather than luminal obstruction. As such intetstinal obstruction is a rare occurrence until the tumour attains enormous size.
Clinical diagnosis of GIST is based on index of suspicion[6, 7]. Specific diagnostic signs and symptoms are absent. Chronicity is a rule. Acute atypical presentation includes hemorrhage and perforative peritonitis[1–10]. Preoperative imaging modalities like contrast enhanced abdominal computerized tomography (CT) aids in diagnosis. The extent of the tumor, metastases and involvement of other organs can be assessed. A dedicated magnetic resonance imaging (MRI) provides better information than CT in the preoperative staging workup[7, 8]. Endoscopy can diagnose gastric GISTs. Endoscopy demonstrates smooth, mucosa-lined protrusion of the bowel wall which may or may not show signs of bleeding or ulceration. Endoscopic ultrasound with guided fine-needle aspiration is diagnostic for primary lesions in 89% of the cases[8–10]. However, the relative usefulness of images depends on the site, duration and suspicion of GIST in patients presenting with undiagnosed abdominal lumps. The decisive diagnosis rests on the pathological and immunohistological tests[2, 5–10]. Histopathologically GISTs are composed of spindle (70%), epithelioid and round cell or an admixture[6, 8]. Similarities with histological picture of gastrointestinal leiomyosarcoma, leiomyoblastoma and poorly differentiated carcinomas may cause diagnostic dielemma, Immuno-histochemical assays for CD117 antigen (KIT) is the mainstay for diagnosis[9, 10].
Diagnosis of asymptomatic GIST with acute presentation like perforation remains elusive. Accordingly, our provisional diagnosis was peptic perforation as free gas under diaphragm was noted in erect abdominal rhoentgenogram.
Optimal surgical treatment of GIST entails complete removal of the tumor with clear surgical margins including the adjacent involved organs[5–10]. Complete surgical resection entails 48-65% five-year survival. Perforation of the tumor lowers the five-year survival to 24%, probably due to peritoneal dissemination. Local and regional lymph node involvement is infrequent in GIST[6, 8, 10]. GIST’s presenting with perforation, attention needs to be paid, in view of possible recurrence of the tumor. Abundant peritoneal lavage should be performed with distilled water to reduce the risk of peritoneal tumour spillage. Distilled water is used because of its cytolytic activity on suspended cells[7, 9, 10].
GIST response to conventional chemotherapy is very poor (<10%), while radiotherapy is only used in cases of intraperitoneal hemorrhage, when the precise location of the tumor is known, or for analgesic purposes[7, 8].
STI571 (imatinib), acts as a powerful selective inhibitor of tyrosine-kinase, PDGFR (platelet derived growth factor receptor) and c-kit receptor. Oral imatinib at doses >300 mg per day achieves curative results.
The 5-year survival rate is 35%. It increases to 54% after complete surgical excision[1–10]. However 40% will recur within 18 – 24 months. Once recurrence has occurred median survival is 9–16 months[3, 5, 7, 8, 10].
“Written informed consent was obtained from the patient for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal”.
- Efremidou EI, Liratzopoulos N, Papageorgiou MS, Romanidis K: Perforated GIST of the small intestine as a rare cause of acute abdomen: surgical treatment and adjuvant therapy. Case report. J Gastrointestin Liver Dis. 2006, 15: 297-299.PubMedGoogle Scholar
- Oida Y, Motojuku M, Morikawa G, Mukai M, Shimizu K, Imaizumi T, Makuuchi H: Laparoscopic-assisted resection of gastrointestinal stromal tumor in small intestine. Hepatogastroenterology. 2008, 55: 146-149.PubMedGoogle Scholar
- Miettinen M, Sobin LH, Lasota J: Gastrointestinal stromal tumors presenting as omental masses–a clinicopathologic analysis of 95 cases. Am J Surg Pathol. 2009, 33: 1267-1275. 10.1097/PAS.0b013e3181a13e99.View ArticlePubMedGoogle Scholar
- Sornmayura P: Gastrointestinal stromal tumors (GISTs): a pathology view point. J Med Assoc Thai. 2009, 92: 124-135.PubMedGoogle Scholar
- Steigen SE, Bjerkehagen B, Haugland HK, Nordrum IS, Løberg EM, Isaksen V, Eide TJ, Nielsen TO: Diagnostic and prognostic markers for gastrointestinal stromal tumors in Norway. Mod Pathol. 2008, 21: 46-53. 10.1038/modpathol.3800976.View ArticlePubMedGoogle Scholar
- Wilson SL, Wheeler WE: Giant leiomyoma of the small intestine with free perforation into the peritoneal cavity. South Med J. 1992, 85: 667-668. 10.1097/00007611-199206000-00024.View ArticlePubMedGoogle Scholar
- Shah SN: Malignant gastrointestinal stromal tumor of intestine: a case report. Indian J Pathol Microbiol. 2007, 50: 357-359.PubMedGoogle Scholar
- Huang CC, Yang CY, Lai IR, Chen CN, Lee PH, Lin MT: Gastrointestinal stromal tumor of the small intestine: a clinicopathologic study of 70 cases in the postimatinib era. World J Surg. 2009, 33: 828-834. 10.1007/s00268-009-9918-4.View ArticlePubMedGoogle Scholar
- Kingham TP, DeMatteo RP: Multidisciplinary treatment of gastrointestinal stromal tumors. Surg Clin North Am. 2009, 89: 217-233. 10.1016/j.suc.2008.10.003.View ArticlePubMedGoogle Scholar
- Annaberdyev S, Gibbons J, Hardacre JM: Dramatic response of a gastrointestinal stromal tumor to neoadjuvant imatinib therapy. World J Surg Oncol. 2009, 7: 30-10.1186/1477-7819-7-30.PubMed CentralView ArticlePubMedGoogle Scholar
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.