The gut microbiome is not just a bystander of colorectal carcinogenesis but is an active driver of colorectal cancer (CRC). CRC-associated microbiome contributes in the tumorigenesis through chronic inflammation, formation of toxic metabolite and genotoxins, oncogenic signal activation, immune evasion, and barrier disruption—all reinforcing a tumor microenvironment. In contrast, beneficial microbiome supports the barrier-immune-metabolic axis by maintaining mucosal integrity and balanced immune tone. Despite extensive studies of microbiome-based CRC biomarkers, microbiome-based CRC biomarkers have not been yet ready for routine clinical use due to variation across populations and lack of standardization of key steps such as sampling, analysis, cutoffs, and interpretation. Microbiome-based therapies aim to change the overall intestinal ecosystem rather than simply adding or removing single strains. At present, dietary modulation and prebiotics are considered supportive measures, while probiotics or synbiotics are in preclinical stage. Fecal microbiota transplantation (FMT) still faces important challenges in effectiveness, standardization and safety. By its role in reshaping the tumor–host immune environment, FMT is viewed as a potential option for cancer therapy after further development through well-controlled clinical trials with careful safety monitoring.
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Neoadjuvant imatinib treatment, followed by complete transvaginal removal, presents a feasible option for large rectal gastrointestinal tumors located on the anterior wall of the rectum and protruding into the vagina. The use of Martius flap interposition is convenient and can be employed to prevent rectovaginal fistula.
Purpose Renin-angiotensin system (RAS) is involved in the pathophysiology of colonic inflammation. The aim of this study was to investigate whether small angiotensins (Angs) peptides play a role in the regulation of colonic motility and their roles are modulated in colitis.
Methods Experimental colitis was induced by an intake of 5% dextran sulfate sodium (DSS) dissolved in tap water for 7 days in Sprague-Dawley rats. After sacrifice, plasma hormone concentrations and messenger RNAs (mRNAs) for RAS were measured. Functional analysis of colonic motility in response to Angs peptides was performed using Taenia coli.
Results DSS-treated colon showed an increased necrosis with massive infiltration of inflammatory cells. The mRNA level of colonic angiotensin II receptor type 2 (AT2R) in DSS-treated rats was higher than that in control rats whereas the mRNA levels of angiotensin II converting enzyme (ACE), ACE2, AT1R, AT4R, and Mars receptor were not different from those in control rats. Ang III, Ang IV, and Ang-(1-9) (1, 3 μM) increased the frequency of basal colonic motility. Ang-(1-7) did not cause any significant changes in frequency and amplitude of basal motility. The order of potency for an increased frequency of basal motility seems to be Ang II>>Ang IV>Ang III=Ang-(1-9). The increased frequency of basal motility by Ang-(1-9) but not Ang IV was significantly enhanced in DSS-treated rat colon.
Conclusion In conclusion, these data suggest that small Angs peptides are partly involved in the pathophysiological regulation of colonic motility in experimental colitis.
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Technical Note
Benign GI diease,Rare disease & stoma,Surgical technique
Fecaliths or fecomucoliths can form in rectal stumps after a Hartmann procedure or in a coloneovaginal conduit. They can cause significant distress to the patient by causing symptoms such as discharge and odor. We describe a novel and effective method of endoscopic obliteration and removal where other techniques such as removal during examination under anesthesia or serial enemas have failed. By using a combination of hydrodissection with a saline injector gun and biopsy forceps and a polypectomy snare to break down the fecomucolith or fecalith, this troublesome problem can be resolved endoscopically. Successful removal of the fecalith/fecomucolith and resolution of the symptoms for the patients were achieved. No complications are reported. We describe an effective and novel method for endoscopic removal of fecaliths and fecomucoliths.
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Congenital factor V (FV) deficiency is a rare hemorrhagic disorder that can cause excessive bleeding during and after surgery in the affected patient. This report is the case of a patient who had FV deficiency with recurrent posthemorrhoidectomy bleeding treated with the hemostatic procedure and fresh frozen plasma (FFP) transfusions. A 45-year-old male patient had previously undergone hemorrhoidectomy for multiple hemorrhoids at a local hospital. Hemorrhoidectomy was successful; however, he was transferred to our hospital for evaluation of the origin of the recurrent posthemorrhoidectomy bleeding and underwent a hemostatic procedure. This bleeding was treated with coagulation using electrocautery, multiple sutures, and FFP transfusion (1,600 mL/day) for 7 consecutive days. The patient’s plasma FV activity was 23%. Early detection of clotting factor deficiency in patients with hemorrhagic events after surgical treatments may prevent unnecessary procedures such as reoperations and minimize the cost of replacement therapy such as large-volume FFP transfusion.
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Purpose We conducted a prospective study to evaluate a new hemorrhoidal bleeding score (HBS).
Methods All consecutive patients who had consulted between May 1, 2016 and June 30, 2017 for bleeding hemorrhoidal disease were prospectively assessed at a proctological department. The study was conducted in 2 stages. The first stage assessed the validity of the score on a prospective patient cohort. A second stage assessed the interobserver reproducibility of the score on another prospective cohort.
Results One hundred consecutive patients were studied (57 males; mean age, 49.70 years). A positive association between HBS and surgery indication was found (P<0.001). A cut-off value of the score of 5 (≤5 vs. >5) separated patients from surgical to medical-instrumental treatment with a sensitivity and specificity of 75.00% and 81.25%, respectively. In the multivariate analysis, only HBS was significantly associated with the operative decision (odds ratio, 12.22). Prolapse was no longer significantly associated with the surgical indication. After a mean follow-up after treatment of 7 months, HBS improved statistically significantly (P<0.0001). For the reproducibility of the score, an additional 30 consecutive patients (13 males; mean age, 53.14 years) were enrolled with an excellent agreement between 2 proctologists (kappa=0.983).
Conclusion HBS is sensitive, specific, and reproducible. It can assess the severity of hemorrhoidal bleeding. It can discriminate between the most severe surgery-indicated patients and does so in a more efficient way than the Goligher prolapse score. It also allows quantifying the extent of change in hemorrhoidal bleeding after treatment.
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Ann Coloproctol. 2020;36(4):243-248. Published online March 16, 2020
Purpose Upper gastrointestinal (GI) tract involvement in Crohn disease (CD) is rare and effectiveness of surgical treatment is limited. The aim of this study was to evaluate characteristics and surgical outcomes of upper GI CD.
Methods Medical records of 811 patients who underwent intestinal surgery for CD between January 2006 and December 2015 at a single institution were reviewed. Upper GI CD was defined by involvement of the stomach to the fourth portion of duodenum, with or without concomitant small/large bowel CD involvement according to a modification of the Montreal classification.
Results We identified 24 patients (21 males, 3 females) who underwent surgery for upper GI CD. The mean age at diagnosis was 27 ± 12 years, the mean age at surgery was 33 ± 11 years, and the mean duration of CD was 73.6 ± 56.6 months. Fifteen patients (62.5%) had history of previous perianal surgery. Ten patients (41.7%) had duodenal or gastric stricture and 14 patients (58.3%) had penetrating fistula; patients with fistula were significantly more likely to develop complications (57.1% vs. 20.0%, P = 0.035). One patient with stricture had surgical recurrence. In seven patients with fistula, fistula was related to previous anastomosis. Patients with fistula had significantly longer hospital stays than those with stricture (16 days vs. 11 days, P = 0.01).
Conclusion Upper GI CD is rare among CD types (2.96%). In patients with upper GI CD, penetrating fistula was associated with longer hospital stay and more complications.
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For many years, developmental and physiological differences have been known to exist between anatomic segments of the colorectum. Because of different outcomes, prognoses, and clinical responses to chemotherapy, the distinction between right colon cancer (RCC) and left colon cancer (LCC) has gained attention. Furthermore, variations in the molecular features and gut microbiota between right and LCCs have recently been a hot research topic. CpG island methylator phenotype-high, microsatellite instability-high colorectal cancers are more likely to occur on the right side whereas tumors with chromosomal instability have been detected in approximately 75% of LCC patients and 30% of RCC patients. The mutation rates of oncogenes and tumor suppressor genes also differ between RCC and LCC patients. Biofilm is more abundant in RCC patients than LLC patients, as are Prevotella, Selenomonas, and Peptostreptococcus. Conversely, Fusobacterium, Escherichia/Shigella, and Leptotrichia are more abundant in LCC patients compared to RCC patients. Distinctive characteristics are apparent in terms of molecular features and gut microbiota between right and LCC. However, how or to what extent these differences influence diverging oncologic outcomes remains unclear. Further clinical and translational studies are needed to elucidate the causative relationship between primary tumor location and prognosis.
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Management of large-size retrorectal gastrointestinal stromal tumors (GISTs) is complex and challenging from diagnosis to treatment. This may create technical difficulties in surgical access and complete resection of the tumor. The abdominosacral resection has the benefit of improved visualization via the anterior incision, with enhanced exposure of the midrectal area, which makes resecting the tumor completely via the posterior approach easier. We report 2 cases of patients with a retrorectal GIST and neurofibromatosis type 1, one in a 27-year-old woman with a defecation complaint and the other in a 58-year-old woman with a defecation and urination complaint. Based on the anatomical pathology, both patients were diagnosed with a GIST. The tumors were excised via an abdominosacral resection. Retrorectal GISTs are rare, and abdominosacral resection allows complete resection of a large-size retrorectal GIST with low morbidity and an absence of functional impairment. The abdominosacral resection should be considered in certain situations.
A granular cell tumor (GCT) is an uncommon mesenchymal lesion that rarely occurs in the colon and the rectum. We describe the case of 51-year-old man with a 2-cm-sized rectal GCT 10 cm above the anal verge that was incidentally detected after a screening colonoscopy. Preoperative radiologic studies demonstrated a suspicious submucosal rectal mass with mesorectal fat infiltration, but without circumferential resection margin threatening, extramural vessel invasion, and regional lymph-node enlargement. The tumor was resected by using a transanal endoscopic operation (TEO) without immediate postoperative complications. The final pathology revealed that the tumor consisted of a GCT that had invaded the subserosa with clear margins. It had no other risk factors for malignancy according to Fanburg-Smith criteria. We systematically reviewed the English literature by using PubMed and Google Scholar. This report may be the first documented case in the literature to describe a TEO for a GCT that had invaded the subserosa in the rectum.
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Mesenteric embolization is an integral part in the management of acute lower gastrointestinal (GI) bleeding. The aim of this study was to highlight our experience after adopting mesenteric embolization in the management of acute lower GI hemorrhage.
Methods
A retrospective review of all cases of mesenteric embolization for acute lower GI bleeding from October 2007 to August 2012 was performed.
Results
Twenty-seven patients with a median age of 73 years (range, 31 to 86 years) formed the study group. More than half (n = 16, 59.3%) of the patients were on either antiplatelet and/or anticoagulant therapy. The underlying etiology included diverticular disease (n = 9), neoplasms (n = 5) and postprocedural complications (n = 6). The colon was the most common bleeding site and was seen in 21 patients (left, 10; right, 11). The median hemoglobin prior to the embolization was 8.6 g/dL (6.1 to 12.6 g/dL). A 100% technical success rate with immediate cessation of hemorrhage at the end of the session was achieved. There were three clinical failures (11.1%) in our series. Two patients re-bled, and both underwent a successful repeat embolization. The only patient who developed an infarcted bowel following embolization underwent an emergency operation and died one week later. There were no factors that predicted clinical failure.
Conclusion
Mesenteric embolization for acute lower GI bleeding can be safely performed and is associated with a high clinical success rate in most patients. A repeat embolization can be considered in selected cases, but postembolization ischemia is associated with bad outcomes.
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Tuberculosis of the sigmoid colon is a rare disorder. An 80-year-old man visited Bongseng Memorial Hospital for medical examination. A colonoscopy was performed, and a lesion in the sigmoid colon that was suspected to be colon cancer was found. A biopsy was performed, and tuberculous enteritis with chronic granulomatous inflammation was diagnosed. Intestinal tuberculosis is most frequent in the ileocecal area, followed by the ascending colon, transverse colon, duodenum, stomach, and sigmoid colon, in descending order. Hence, we report a case of intestinal tuberculosis in the sigmoid colon, which is rare and almost indistinguishable from colon cancer.
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Surgery is the standard treatment for a primary gastrointestinal stromal tumor (GIST); however, surgical resection is often not curative, particularly for large GISTs. In the past decade, with imatinib mesylate (IM), management strategies for GISTs have evolved significantly, and now IM is the standard care for patients with locally advanced, recurrent or metastatic GISTs. Adjuvant therapy with imatinib was recently approved for use, and preoperative imatinib is an emerging treatment option for patients who require cytoreductive therapy. IM neoadjuvant therapy for primary GISTs has been reported, but there is no consensus on the dose of the drug, the duration of treatment and the optimal time of surgery. These are critical because drug resistance or tumor progression can develop with a prolonged treatment. This report describes two cases of large rectal malignant GISTs, for which a abdominoperineal resection was initially anticipated. The two patients received IM preoperative treatment; we followed-up with CT or magnetic resonance imaging to access the response. After 9 months of treatment, a multi-disciplinary consensus that maximal benefit from imatinib had been achieved was reached. We determined the best time for surgical intervention and successfully performed sphincter-preserving surgery before resistance to imatinib or tumor progression occurred. We believe that a multidisciplinary team approach, considerating the optimal duration of therapy and the timing of surgery, is required to optimize treatment outcome.
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Tumors of the small bowel are rare, accounting for about 3-6% of all gastrointestinal neoplasms, though they cover more than 90% of the intestinal surface. However, diagnosis and treatment are difficult and present an ongoing challenge for both gastrointestinal surgeons and gastroenterologists. The aim of this study was to investigate the clinical features of small bowel tumors.
Methods
Between November 1994 and November 2007, 81 patients underwent treatments for primary tumors in the jejuno-ileal region at the Department of Surgery, Kangnam St. Mary's Hospital, the Catholic University of Korea. A retrospective review of the patients' characteristics and variable tumor factors was performed.
Results
The mean age of the patients was 53.2 years with 48 men and 33 women. The most common symptom was abdominal pain (59.3%), followed by bleeding (22.2%) and an abdominal mass (6.2%). We found that the patients with ileal tumors complained mainly of abdominal pain (72.9%) whereas the patients with jejunal tumors presented with gastrointestinal bleeding (36.4%) (P = 0.048). Seventy-six of the 81 patients (93.8%) had malignant tumors, including 40 (49.4%) gastrointestinal stromal tumors, 26 (32.1%) lymphomas and 5 (6.2%) adenocarcinomas. No postoperative mortalities were observed. The overall 5-year survival rate of the patients with malignant small bowel tumors was 31.8%.
Conclusion
Because the clinical features of a primary tumor of the small bowel are obscure and its diagnosis is difficult, maintaining a high degree of suspicion and recognizing the possibility of a primary small bowel tumor are important.
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Clinicopathological Features of Small Bowel Tumors Diagnosed by Video Capsule Endoscopy and Balloon-Assisted Enteroscopy: A Single Center Experience Ah Young Yoo, Beom Jae Lee, Won Shik Kim, Seong Min Kim, Seung Han Kim, Moon Kyung Joo, Hyo Jung Kim, Jong-Jae Park Clinical Endoscopy.2021; 54(1): 85. CrossRef
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A Gastrointestinal Stromal Tumor Presenting as an Emergency: a Case Report Konstantinos Bouliaris, Aikaterini Michopoulou, Konstantinos Spanos, Vassilios Simopoulos, Ioannis Bolanis, Stylianos Germanos Journal of Gastrointestinal Cancer.2012; 43(S1): 178. CrossRef
PURPOSE Partial obstruction of the small bowel causes hypertrophy of smooth muscle cells and enteric neurons.
After small bowel obstruction, slow waves have also been reported to disappear or to be greatly reduced at the oral site of the obstruction in the murine ileum. The purpose of this research was to study the changes in migrating motor complexes (MMCs) after partial obstruction in order to compensate for the attenuated function of slow waves. METHODS A ring of film (6 mm in length, 4 mm in internal diameter) was placed over the small intestine 5-6 cm oral to the ileocecal valve in 8-10 wk old female ICR mice. These rings resulted in a partial obstruction of the intestine after 2 wk. The mechanical activities of the small intestine were recorded and the amplitude, interval, and half-duration of the MMCs were analyzed. RESULTS The MMCs from a partially obstructed ileum occurred every 1.58+/-1.06 min and had a half-duration of 6.90+/-5.54 sec. The interval and the half-duration of the control MMCs were 3.60+/-1.11 min and 31.5+/-11.4 sec, respectively. The difference in interval and the half-duration of the MMCs reached statistical significance (P=0.03; P=0.00). The amplitude and the area under the curve (AUC) of the MMCs of the obstructed ileum were much higher than those of the control (31.3+/-8.86 vs. 6.05+/-1.92 mN; 161.18+/-44.09 vs.
72.95+/-2.45 mN . sec/MMC wave; P=0.00, 0.02). CONCLUSION The MMCs with higher amplitude and AUC, with shorter interval, and with shorter half-duration, compared with those of the control, were recorded from the partially obstructed murine ileum, reflecting efforts to overcome the effect of obstruction by increasing the power of contractions.
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Migrating motor complex changes after side-to-side ileal bypass in mouse ileumex-vivo: mechanism underlying the blind loop syndrome? Suk-Bae Moon, Kyu-Joo Park, Jung-Sun Moon, Eun-Kyoung Choe, In-Suk So, Sung-Eun Jung Journal of the Korean Surgical Society.2011; 80(4): 251. CrossRef
PURPOSE This study was designed to review the clinical characteristics of gastrointestinal stromal tumors (GISTs) of the colon and rectum and to evaluate their immunohistochemical and pathologic features based on the current National Institutes of Health criteria. METHODS Patient and disease characteristics, pathologic features, surgical or endoscopic management, and clinical outcomes of 11 patients with GISTs diagnosed and primarily treated at our institution between March 1995 and February 2009 were evaluated. RESULTS Colorectal GISTs accounted for 4.4% of all GISTs.
The primary location was the rectum (8 cases). Four patients had high-risk GISTs, 4 patients had low-risk GISTs, and 3 patients had very low-risk GISTs. All tumors were c-kit positive. Four patients underwent a radical resection, whereas 7 patients underwent an endoscopic resection (n=3) or a transanal excision (n=4). Two high-risk patients without adjuvant Imatinib mesylate therapy developed metastases, but the other high-risk patients with adjuvant Imatinib mesylate therapy didn't. CONCLUSION Colorectal GISTs occurred predominantly in the rectum. Because GISTs do not metastasize through the lymphatics, small GISTs that are amenable to local excision or endoscopic resection can be treated by either of these techniques as long as negative microscopic margins are obtained around the primary tumor. Patients with high-risk GISTs should be considered for the use of Imatinib mesylate as adjuvant therapy.
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Transanal endoscopic microsurgery with alternative neoadjuvant imatinib for localized rectal gastrointestinal stromal tumor: a single center experience with long-term surveillance Xueshan Bai, Weixun Zhou, Yunhao Li, Guole Lin Surgical Endoscopy.2021; 35(7): 3607. CrossRef
Primary localized rectal/pararectal gastrointestinal stromal tumors: results of surgical and multimodal therapy from the French Sarcoma group Thanh-Khoa Huynh, Pierre Meeus, Philippe Cassier, Olivier Bouché, Sophie Lardière-Deguelte, Antoine Adenis, Thierry André, Julien Mancini, Olivier Collard, Michael Montemurro, Emmanuelle Bompas, Maria Rios, Nicolas Isambert, Didier Cupissol, Jean-Yves Bla BMC Cancer.2014;[Epub] CrossRef
Efficacy of Imatinib Mesylate Neoadjuvant Treatment for a Locally Advanced Rectal Gastrointestinal Stromal Tumor Kyu Jong Yoon, Nam Kyu Kim, Kang Young Lee, Byung Soh Min, Hyuk Hur, Jeonghyun Kang, Sarah Lee Journal of the Korean Society of Coloproctology.2011; 27(3): 147. CrossRef
A benign cecal ulcer is an uncommon lesion. The etiology remains unknown, and there are no pathognomonic lesions or symptoms. Lower gastrointestinal tract hemorrhage secondary to benign cecal ulcer is the most common complication.
Herein, the case of a 24-year-old man with a benign cecal ulcer presenting with a massive lower gastrointestinal tract hemorrhage requiring transfusion until a exploratory laparotomy and right hemicolectomy, is reported with a review of the literature. Surgical intervention is warranted if malignancy is suspected or if the patient has signs of uncontrollable hemorrhage, perforation, or peritonitis.
Congenital cystic duplications of the alimentary tract are rare, but can occur anywhere along the GI tract. Ileal duplication cysts account for the majority of diagnosed cases. Symptoms generally develop during infancy or childhood, with diverse presentations. Common manifestations include abdominal pain, an abdominal mass, vomiting, occasional intussusception, perforation, bleeding, and obstructive symptoms. In this report, we present the case of a 20-year-old man with an ileal duplication cyst with obscure lower gastrointestinal bleeding. The patient underwent cyst excision with a primary end to end anastomosis. The patient was discharged on the postoperative 7th day without any complications.
Occult bleeding of the gastrointestinal tract is a major cause of iron deficiency anemia. Even with endoscopic evaluation of the upper and the lower gastrointestinal tract in these patients, in 30~50% of the cases, the cause of bleeding still remains undiscovered. Wireless capsule endoscopy (WCE) is a novel method of evaluating the small bowel mucosa by using a small capsule equipped with a camera and transmission device. Complications of WCE include impaction within the gastrointestinal tract, sometimes requiring surgical removal. The authors report a case of capsule impaction in the small bowel in a patient evaluated for anemia due to occult gastrointestinal tract bleeding.
The patient is a 19 year-old female with a history of anemia since age 4. The stool guaiac test was positive, but upper and lower gastrointestinal tract endoscopy showed no abnormalities, so WCE was done. A short segment of circular ulcers with lumen narrowing were seen in the distal jejunum.
Seven days after ingestion of the capsule, the patient denied passage of the capsule. Small bowel enteroclysis was performed, and the capsule was seen along with a segment of lumen narrowing distal to the site of retention. Surgery was done, and upon laparoscopic examination, the entire bowel appeared normal. Retrieval of the capsule was done along with a resection of an 8 cm segment of the small bowel.
Three linear ulcers were seen in the resected bowel specimen. Pathology revealed no evidence of Crohn's disease or tuberculosis. The patient is still on iron supplements, but her hemoglobin level remains stable at 11~12 g/dl.
PURPOSE A gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal tract.
There are only few reports in the literature describing colorectal GISTs. The aim of this study was to evaluate the clinicopathologic features of colorectal GISTs and to verify prognostic factors. METHODS We reviewed 14 patients diagnosed as having primary colorectal GISTs between 1992 and 2003. Clinicopathologic variables and immunohistochemical expressions were analyzed.
The diagnostic criteria and grading system for the GISTs were based on the proposal by the National Institutes of Health in April 2001. The median follow-up period was 27 (1~137) months. RESULTS The male-to-female ratio was 9 : 5, and the mean age was 61 (37~76) years. The primary location was the rectum (11 cases, 78.6%). The mean tumor size was 7.7 (1.5~17) cm, and the mean number of mitoses was 33.4 (1~150) per 50 HPF. Of the 14 patients, 10 patients (71.4%) were regarded as a high-risk group and four patients as an intermediate-risk group. KIT protein and CD34 were expressed in 92.9% and 78.6% of the cases, respectively. The patients were subclassified based on immunohistochemical expressions as an uncommitted type in 11 cases (78.6%), a combined type in 2 cases (14.3%), and a myoid type in 1 (7.1%) case.
Recurrence occured in three patients (21.4%) who were in the high-risk group. CONCLUSIONS Colorectal GISTs occurred predominantly in the rectum and tended to be classified as high risk, which was the most important risk factor for recurrence. Accurate diagnosis and grading are important for adequate treatment and accurate prognosis.
Park, Jong Kyung , Yun, Sang Seob , Kang, Won Kyung , Cho, Hyeon Min , Kim, Ji Youn , Choi, Seung Hye , Oh, Seong Taek , Oh, Se Jeong , Oh, Seong Lee , Jeon, Hae Myung
PURPOSE Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors which arise anywhere in the tubular GI tract. The prognosis for GISTs that develop in the small and the large bowel is worse than it is for those that develop at other sites. We examined the significance of c-kit mutation as an independent prognostic factor for GISTs. METHODS The hospital records of 27 patients with GISTs in the small and the large bowel who were seen from January 1991 to December 2001 at the Department of Surgery, The Catholic University School of Medicine, were reviewed. c-kit mutation was measured by using the PCR and DNA sequencing. RESULTS Mutations in exon 11 were found in 5 cases (83.3%), exon 9 in 1 case (16.7%), and no mutations were noted in exon 13 and exon 17. All mutations in exon 11 were found in codon 560-570. c-kit mutation was observed more frequently in high-risk patients, and there was a significant difference between c-kit mutation and the survival rate (P=0.048). CONCLUSIONS We think that codon 550~560 in exon 11 of the c-kit gene is a hotspot of mutation, but c-kit mutation is uncertain as an independent prognostic factor for GISTs.
PURPOSE This study was undertaken to investigate the clinicopathological features of GISTs (gastrointestinal stromal tumors) of the colon and rectum. Method At Seoul National University Hospital from Jan. 1994 to Dec. 2002, 11 patients were diagnosed as having GISTs, leiomyomas, or leiomyosarcomas of the colon and rectum. For those 11 patients, immunohistochemical staining for CD117 (c-kit) was undertaken in order to differentiate true GISTs from leiomyomas and leiomyosarcomas. Ten patients were positive for CD117 (c-kit) and were finally diagnosed as having GISTs. Then, we retrospectively analyzed the clinical and the pathological features of those 10 cases and investigated the recurrence of disease and the survival. RESULTS Colorectal GISTs accounted for 0.3% of all colorectal malignancies (10 cases/2,964 cases). The male- female ratio for the 10 patients with GISTs was 8:2, and the median age was 56.5 (34~75) years. The locations of the tumor were the rectum in 9 cases (90%) and the ascending colon in 1 case. The most common symptoms were decreased stool caliber and GI bleeding (3 cases, respectively). A curative-intent resection was possible in 8 cases. There were two cases of recurrence after curative resection (25.0%). The median survival period of the 10 patients was 33.5 (2~70) months. The median tumor size was 7.5 (5~20) cm, and the median number of mitosis per 50 high-power fields was 36.5 (8~123). There was a statistically significant correlation between size and mitotic count (r=0.942, P=0.001). CONCLUSIONS Colorectal GISTs are very rare disease entities (0.3% of the colorectal malignancies). However, all colorectal GISTs were classified as malignant based on their sizes and mitotic counts in our study. For introduction of STI-571 in the treatment of colorectal GISTs and for further study, accurate diagnosis of GISTs by special immunohistochemical staining (c-kit) is very important in differential diagnosis of primary gastrointestinal mesenchymal tumors and recurred leiomyosarcomas.