Malignant Rectal Gastrointestinal Stromal Tumour: Case Report and Review of Literature
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CASE REPORT
Malignant Rectal Gastrointestinal Stromal Tumour: Case Report and Review of Literature Ana Catarina Lagos & Inês Marques & Jorge Reis & Irene Martins & Beatriz Neves
Published online: 8 March 2012 # Springer Science+Business Media, LLC 2012
Introduction Gastrointestinal stromal tumour (GIST) is an uncommon mesenchymal tumour located throughout the gastrointestinal tract. GISTs are commonly found in the stomach (60–70 %), followed by the small intestine (20–25 %); only 5 % of all GISTs originate in the rectum [1]. GISTs typically express CD117, a c-kit proto-oncogene, which can be detected immunohistochemically. In this report, the authors describe a rare case of GIST of the rectum.
Case Report An 83-year-old woman presented with severe rectal pain lasting 1 week. There was no complaint of constipation; tenesmus was absent, and there was no blood or mucous discharge. She had no relevant past history or family history, apart from degenerative osteo-articular disease since the age of 60 years. Clinical examination did not detect any palpable abdominal mass. Upon rectal examination, a painful mass was palpated 4 cm from the anus on the posterior rectal wall. The mass was hard and mobile, with regular surface. No gross blood was detected. A provisional diagnosis of rectal carcinoma was made. Colonoscopy confirmed the presence
A. C. Lagos (*) : I. Marques : J. Reis : B. Neves Department of Gastroenterology, Hospital Pulido Valente, Alameda das Linhas Torres, 117, 1769-001 Lisbon, Portugal e-mail: [email protected] I. Martins Division of Gastroenterology, Cuf Cascais Clinic, Cascais, Portugal
of a mass, probably of submucous origin, measuring about 6 cm in its maximum diameter, attached to the posterior rectal wall and at anal canal/rectum transition. The surrounding mucosa appeared normal (Fig. 1). CT with contrast of the abdomen and chest showed a mass with a marked, regular, eccentric thickening of the posterior wall of the lower third of the rectum, but there was no evidence for either pelvic lymphadenopathy or distant metastasis. Standard laboratory tests of serum and urine showed no abnormalities. Carcinoembryonic antigen and carbohydrate antigen (CA 19.9) were within normal limits. A magnetic resonance imaging (MRI) confirmed the presence of a submucosal mass at the posterior wall of the lower third of the rectum, and no unusual lymph nodes were seen (Fig. 2). The diagnosis of rectal GIST was proposed. Transrectal ultrasound was performed, together with an echo-guided needle biopsy for histologic examination. This examination confirmed an exophytic, heterogenous, hypoechoic submucosal mass (measuring 6×5 cm) on the posterior rectal wall. The histological examination of the biopsy samples led to a diagnosis of GIST due to the immunohistochemical positivity for CD117 and CD34. The patient underwent a transanal endoscopic surgery with removal of the entire tumour. The post-operative period was perfectly normal, with no complications, and the patient was sent home on the day after the surgery. Hi
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