Malignant rhabdoid tumor of rectum: report of a case

Abstract

Dear Editor, Malignant rhabdoid tumor, which first described in kidneys of infants and children, is a rare and highly aggressive neoplasm with very poor prognosis and unresponsiveness to conventional treatment [1–3]. This tumor has been reported at many other sites, such as central nervous system, spine, urinary bladder, thyroid, retroperitoneum, and so forth [1–4]. The gastrointestinal tract is even rarer site of this disease, only 22 cases of gastrointestinal malignant rhabdoid tumor have been previously described in literature, but only one case of rectal malignant rhabdoid tumor has been published to date [3]. We report a case of a 23-year-old woman with malignant rhabdoid tumor of the rectum, she was healthy 17 months later after operation, who was treated by radical resection followed by adjuvant chemoradiotherapy. The aim of this correspondence is to call the clinician’s attention to the differential diagnostic importance of this entity. Although there are isolated reports of long-term survival with intensive, multimodal therapy, the prognosis of malignant rhabdoid tumor is generally poor [4]. A retrospective review of 34 pediatric malignant rhabdoid tumors from Morgenstern et al. [2], only four survived long ([30 months), all of whom received chemotherapy with or without surgical resection or radiotherapy. However, our experience suggests that radical resection is the first choice of treatment for rectal malignant rhabdoid tumor, followed by adjuvant radiotherapy and chemotherapy after operation; this is in agreement with Macak’s opinion [3]. A 23-year-old woman presented with 1 month of abdominal pain and bloody diarrhea. Her medical history was unremarkable except for an appendectomy because of acute purulent appendicitis 2 years previously. The physical examination revealed that a well-developed and wellnourished, the abdomen was protuberant, there was no palpable masses or organomegaly, and there were active bowel sounds, there was no lower abdominal rigidity or rebound tenderness either. The rectal digital examination revealed a cauliflower-like rectal tumor, 5.0 9 5.0 cm in diameter, at 5 cm distance from the anal verge was palpable. Laboratory examination revealed that the initial leukocyte count was 14.9 9 10/L, neutrophil 0.758, red blood cell count 4.36 9 10/L, a platelet count 410 9 10/L, alpha-fetoprotein (AFP) 1.7 ug/L, carcinoembryonic antigen (CEA) 0.4 ug/L, cancer antigen (CA)19–9 6 U/ml, prothrombin time and partial thromboplastin time were normal. Computerized tomography (CT) revealed that thickening of diseased rectum associated with enlargement of afferent bowel. Colonoscopy revealed an ulcerated tumor at anterior wall of rectum 5 cm distance from the anal verge, and biopsy demonstrated a well-differentiated adenocarcinoma of the tumor. At laparotomy, a tumor of 5.0 9 6.0 cm in size located at below the peritoneal reflection, no evidence of invasion to adjacent organ was found, and therefore Miles’ operation was performed. A histological diagnosis of malignant rhabdoid tumor of the rectum was made after operation, and tumor cells invaded fibrous membrane of the rectum. The postoperative histopathological examination revealed that the tumor was arranged diffusely, and histologically S. L. Han (&) J. L. Li Z. Liu J. Cheng S. C. Guo Department of General Surgery, The First Affiliated Hospital of Wenzhou Medical College, 325000 Wenzhou, Zhejiang Province, China e-mail: slhan88@yahoo.com.cn; slhan88@126.com