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1.
Journal of the Korean Radiological Society ; : 400-405, 2022.
Article in English | WPRIM | ID: wpr-926427

ABSTRACT

Gastrointestinal stromal tumors (GISTs) are not uncommon and often cause gastrointestinal bleeding. GISTs occurring in the small intestine are occasionally difficult to identify by endoscopy and CT. In this case, the patient underwent CT three times before surgery, and the lesion was found to be located in a different area of the abdominal cavity on each CT scan. Moreover, the lesion was missed in the first two CT images because it was difficult to distinguish it from the nearby collapsed small intestine. The lesion was eventually detected through angiography; however, the correct diagnosis and treatment were delayed for 3 years because it was mistaken for a vascular malformation, which is the most common cause of obscure GI bleeding in elderly patients. This report emphasizes the need for interventional radiologists to be updated and vigilant of the angiographic features of GISTs to make an accurate diagnosis and establish a management strategy.

2.
Obstetrics & Gynecology Science ; : 533-536, 2018.
Article in English | WPRIM | ID: wpr-715915

ABSTRACT

As cosmetic procedures receive increasing attention from the media, female genital cosmetic surgery (FGCS) has become quite popular in Korea. The safety and efficacy of these surgeries and procedures have yet to be thoroughly documented. We report a case of a 47-year-old woman who underwent a vaginal sling implantation, which resulted in the misdiagnosis of a rectal subepithelial tumor during endoscopic mucosal resection (EMR). This patient suffered an iatrogenic rectal perforation during the EMR, which necessitated an exploratory operation. The sling implant was removed via the vaginal approach, and a primary repair of the vaginal and rectal walls was performed. The patient subsequently showed no sign of complication at her 6-month follow-up. Patients need to be educated about the importance of reporting a history of FGCS prior to undergoing surgical or endoscopic procedures. Also, physicians have to check the medical history of patient thoroughly to avoid misdiagnoses and unnecessary treatment.


Subject(s)
Female , Humans , Middle Aged , Diagnostic Errors , Follow-Up Studies , Genitalia, Female , Korea , Rectal Neoplasms , Surgery, Plastic
3.
Annals of Coloproctology ; : 157-159, 2018.
Article in English | WPRIM | ID: wpr-715238

ABSTRACT

Although toothpick ingestion is rare, it can lead to fatal complications in the gastrointestinal tract. Diagnosing toothpick ingestion is difficult because most patients do not recall swallowing one. We report 2 cases of toothpick-ingestion-induced colon injury, mimicking diverticulitis. The first patient was a 47-year-old male who had received conservative treatment under the impression of his having diverticulitis in the cecum. Ultrasonography revealed a linear foreign body in the right lower abdomen; a subsequent laparoscopic examination revealed inflammation around the cecum, but no evidence of bowel perforation. A thorough investigation revealed a toothpick embedded in the subcutaneous fat and muscle layer of the lower abdominal wall; we removed it. The second patient was a 56-year-old male who had received conservative treatment under the impression of his having diverticulitis in the sigmoid colon. An explorative laparotomy revealed a toothpick piercing the sigmoid colon; we performed an anterior resection. Both patients were discharged without postoperative complications.


Subject(s)
Humans , Male , Middle Aged , Abdomen , Abdominal Wall , Cecum , Colon , Colon, Sigmoid , Deglutition , Diverticulitis , Diverticulitis, Colonic , Eating , Foreign Bodies , Gastrointestinal Tract , Inflammation , Laparotomy , Postoperative Complications , Subcutaneous Fat , Ultrasonography
4.
Annals of Coloproctology ; : 112-114, 2017.
Article in English | WPRIM | ID: wpr-153463

ABSTRACT

We report a case of urinary bladder perforation during colonoscopy. A 67-year-old female, who had undergone a transabdominal hysterectomy for uterine myomas 15 years ago, visited the emergency department with complaint of abdominal pain after a screening colonoscopy. Laparoscopic examination revealed severe adhesion between the sigmoid colon and the urinary bladder. The urinary bladder wall was weakened, and several perforation sites were found. The surgery was converted to a laparotomy. After a thorough examination, we performed primary repair for the perforation sites, followed by an omentopexy.


Subject(s)
Aged , Female , Humans , Abdominal Pain , Colon , Colon, Sigmoid , Colonoscopy , Emergency Service, Hospital , Hysterectomy , Laparotomy , Leiomyoma , Mass Screening , Urinary Bladder
5.
Annals of Surgical Treatment and Research ; : 157-164, 2016.
Article in English | WPRIM | ID: wpr-93260

ABSTRACT

PURPOSE: The purpose of this study was to examine 2-year follow-up results of cytoreductive surgery (CRS) and intraperitoneal chemotherapy (IPC) for peritoneal carcinomatosis (PC) of colorectal cancer. METHODS: We performed 54 cases of CRS and IPC in 53 patients with PC of colorectal cancer from December 2011 to December 2013. We collected data prospectively and analyzed the grade of PC, morbidity and mortality, and short-term follow-up (median, 10 months; range, 2–47 months) results. RESULTS: Mean peritoneal cancer index (PCI) was 15 (range, 1–35), and complete cytoreduction was possible in 35 patients (64.8%). Complications occurred in 25 patients (46.3%) and mortality occurred in 4 patients (7.4%). Excluding the 4 mortalities, 17 patients out of 49 patients (31.5%) were alive at the time of the last follow-up and the overall median survival was 10.3 months. Patients with complete cytoreduction had a median survival of 22.6 months, which was significantly longer than the median survival of 3.5 months for patients without complete cytoreduction (P < 0.001). PCI grade, CCR grade, cell type, and postoperative chemotherapy were significant prognostic factors by univariate analysis. Positive independent prognostic factors by multivariate analysis included PCI grade and postoperative chemotherapy. CONCLUSION: CRS and IPC increased the survival of patients with low PCI and postoperative systemic chemotherapy was mandatory. However, this combined therapeutic approach showed high rate of complications and mortality. Therefore, this aggressive treatment should be performed in only selected patients by considering the general condition of the patient and the extent of PC.


Subject(s)
Humans , Carcinoma , Colorectal Neoplasms , Drug Therapy , Follow-Up Studies , Korea , Mortality , Multivariate Analysis , Prospective Studies
6.
Annals of Coloproctology ; : 29-33, 2015.
Article in English | WPRIM | ID: wpr-210039

ABSTRACT

PURPOSE: Surgical site infection (SSI) is one of the most common complications that can occur after stoma closure. Reports have described differences in the incidence of wound infection depending on the skin closure technique, but there is no consensus on the ideal closure technique for a stoma wound. The aim of this study was to compare the incidence of SSI and the patient satisfaction between a circumferential purse-string approximation (CPA) and a primary linear closure (PC) of a stoma wound. METHODS: This prospective nonrandomized trial enrolled 48 patients who underwent a stoma closure from February 2010 to October 2013. Patients were divided into two groups according to the stoma closing technique: the CPA group (n = 34) and the PC group (n = 14). The incidences of SSI for the two groups were compared, and the patients' satisfaction with the stoma closure was determined by using a questionnaire. RESULTS: SSI occurred in 3 of 48 patients (6.3%) and was more frequent in the PC group than in the CPA group (3/14 [21.4%] vs. 0/34 [0%], P = 0.021). Time to complete healing after stoma closure in the CPA group was 32 days (range, 14-61 days). Patients in the CPA group were more satisfied with the resulting wound scar (P = 0.043). CONCLUSION: After stoma closure, CPA was associated with a significantly lower incidence of wound infection and greater patient satisfaction compared to PC. However, with the CPA technique, the time to heal is longer than it is with PC.


Subject(s)
Humans , Cicatrix , Consensus , Incidence , Patient Satisfaction , Prospective Studies , Skin , Surgical Stomas , Wound Closure Techniques , Wound Infection , Wounds and Injuries , Surveys and Questionnaires
7.
Annals of Coloproctology ; : 198-201, 2015.
Article in English | WPRIM | ID: wpr-226778

ABSTRACT

We report a case of colonic metastasis from ovarian cancer presented as an intraluminal fungating mass mimicking primary colon cancer 8 years after surgery for ovarian cancer. A 70-year-old woman presented with constipation. She had undergone an extended total abdominal hysterectomy with bilateral salpingo-oophorectomy for an ovarian papillary serous cystadenocarcinoma 8 years earlier. Colonoscopy showed a large fungating mass 10 cm from the anal verge that was suspected to be colorectal cancer. A computed tomography scan showed a bulky intraluminal fungating mass in the rectosigmoid junction. After a lower anterior resection and a pathologic diagnosis, a diagnosis of a papillary serous adenocarcinoma due to metastasis from an ovarian tumor was made for this patient.


Subject(s)
Aged , Female , Humans , Adenocarcinoma , Colon , Colonic Neoplasms , Colonoscopy , Colorectal Neoplasms , Constipation , Cystadenocarcinoma, Serous , Diagnosis , Hysterectomy , Neoplasm Metastasis , Ovarian Neoplasms
8.
Annals of Coloproctology ; : 74-78, 2015.
Article in English | WPRIM | ID: wpr-68110

ABSTRACT

We report a case of a goblet-cell carcinoid tumor of the appendix which metastasized to the peritoneum and was treated by using cytoreductive surgery (CRS) with intraperitoneal chemotherapy. A 47-year-old male presented with chronic constipation and was diagnosed as having a rectal adenocarcinoma with a signet-ring-cell component under colonoscopy. Computed tomography suggested peritoneal metastases with diffuse nodular parietal peritoneal thickening of the entire abdomen and focal invasion of the upper rectum by a seeding mass. CRS with intraperitoneal chemotherapy was done under the diagnosis of a rectal adenocarcinoma with peritoneal metastases. The pathologic diagnosis was a goblet-cell carcinoid tumor of the appendix with peritoneal metastasis. The histological discrepancy between a peritoneal metastatic mass and a rectal mass was due to the mixed histological pattern of a goblet-cell carcinoid tumor. A metastatic mass may not share identical immunohistochemical characteristics from its origin. This histologic discrepancy necessitates caution in diagnosing a distant metastasis of a goblet-cell carcinoid tumor.


Subject(s)
Humans , Male , Middle Aged , Abdomen , Adenocarcinoma , Appendix , Carcinoid Tumor , Colonoscopy , Constipation , Diagnosis , Drug Therapy , Goblet Cells , Infusions, Parenteral , Neoplasm Metastasis , Peritoneal Neoplasms , Peritoneum , Rabeprazole , Rectum
9.
Annals of Surgical Treatment and Research ; : 9-13, 2014.
Article in English | WPRIM | ID: wpr-112289

ABSTRACT

PURPOSE: Chemotherapy-induced nausea and vomiting (CINV) have a negative impact on patients' quality of life and frequently pointed to as a major factor for treatment abandonment. Serotonin (5-HT3) receptor antagonist is considered as key treatment for CINV. Ramosetron and palonosetron are recently developed 5-HT3 receptor antagonists and known as more superior than other first-generation 5-HT3 receptor antagonists. The purpose of this study was to compare the efficacy of ramosetron and palonosetron and determine which drug is more effective for prevention of CINV. METHODS: Colorectal cancer patients treated with chemotherapy were enrolled consecutively. Patients were assigned to receive intravenous injection of ramosetron 0.3 mg or palonosetron 0.25 mg at 30 minutes before initiation of moderately emetogenic chemotherapy. Ramosetron group added oral administration of 0.1 mg ramosetron on the second and third days of chemotherapy. Efficacy parameter consisted of nausea and vomiting. RESULTS: Ninety-one patients received ramosetron and 89 patients received palonosetron. Presentation of vomiting and nausea symptoms was not significantly different between the two groups during acute (0-24 hours) and delayed period (after 24 hours). CONCLUSION: The incidence of CINV between the ramosetron and the palonosetron group has not shown any difference during acute, delayed, and overall period.


Subject(s)
Humans , Administration, Oral , Chemotherapy, Adjuvant , Colorectal Neoplasms , Drug Therapy , Incidence , Injections, Intravenous , Nausea , Quality of Life , Receptors, Serotonin, 5-HT3 , Serotonin , Vomiting
11.
Korean Journal of Medicine ; : 96-101, 2014.
Article in Korean | WPRIM | ID: wpr-224095

ABSTRACT

The World Health Organization (WHO) defines a perivascular epithelioid cell tumor (PEComa) as a mesenchymal neoplasia composed of perivascular epithelioid cells with characteristic morphological and immunohistochemical features. They are rarely malignant. Indeed, only a few cases have been reported in the English literature, and this is the first case of PEComa reported in Korea. A 64-year-old man presented with an abdominal mass and peritoneal seeding. The patient underwent mass excision with descending colon resection and anastomosis. The primary mass and peritoneal seeding was diagnosed as a PEComa histopathologically. Seven months later, he developed liver metastasis and aggravated peritoneal seeding. Here, we report a case of malignant PEComa of the omentum.


Subject(s)
Humans , Middle Aged , Colon, Descending , Epithelioid Cells , Korea , Liver , Neoplasm Metastasis , Omentum , Perivascular Epithelioid Cell Neoplasms , World Health Organization
12.
Annals of Surgical Treatment and Research ; : 244-248, 2014.
Article in English | WPRIM | ID: wpr-163743

ABSTRACT

PURPOSE: Adult intussusception is uncommon, but an organic lesion is found to be the lead point in 75% to 90% of the cases. This study was designed to review our experience with adult intussusception and to determine if there are any preoperative predictive factors for a malignant lead point. METHODS: Thirty-three patients over 15 years of age were diagnosed with intussusceptions through operative finding over a period of 20 years. We reviewed the medical records of these patients retrospectively, and preoperative predictive factors of malignant lead points were analyzed. RESULTS: The preoperative diagnosis of intussusception had been made correctly in 86% of the cases, and computed tomography could find a lead point in 79%. A causative organic lesion was found in 29 patients (88%) pathologically; 16 cases (48%) were due to benign tumors, and 13 (39%) were due to malignant tumors. A malignant lead point was present in four of 21 enteric (20%) versus nine of 13 colonic intussusceptions (75%). The period from symptom appearance to hospital visit showed a more chronic nature in malignant neoplasm than in benign neoplasm (P = 0.006), and the location of causative organic lesion showed significant difference between benign and malignant groups (P = 0.003). CONCLUSION: Adult intussusceptions are commonly secondary to a pathologic lead point, and a computed tomography is an effective diagnostic tool for finding a lead point preoperatively. The chronic nature of the disease presentation and colonic location of the lead point may suggest a malignant neoplasm.


Subject(s)
Adult , Humans , Colon , Diagnosis , Intussusception , Medical Records , Retrospective Studies
13.
Intestinal Research ; : 320-327, 2014.
Article in English | WPRIM | ID: wpr-50695

ABSTRACT

Peutz-Jeghers syndrome is an autosomal dominant inherited disease that manifests as a combination of mucocutaneous pigmentation and gastrointestinal hamartomatous polyps that usually cause intussusception and intestinal hemorrhage. We report the case of a 40-year-old male patient who was diagnosed 20 years ago and had previously undergone 3 intestinal resection surgeries. This time, with the use of combined operative and endoscopic polypectomy, more than 100 polyps were removed. This technique is useful for providing a "clean" small intestine that allows the patient a long interval between laparotomies and reduces the complications associated with multiple laparotomies and resections.


Subject(s)
Adult , Humans , Male , Endoscopy , Hemorrhage , Intestine, Small , Intussusception , Laparotomy , Peutz-Jeghers Syndrome , Pigmentation , Polyps
14.
Journal of the Korean Surgical Society ; : 154-160, 2013.
Article in English | WPRIM | ID: wpr-56690

ABSTRACT

PURPOSE: This study evaluated the efficacy of neoadjuvant chemotherapy combining 5-flurouracil/folinic acid with irinotecan (FOLFIRI) in colorectal multiple liver metastases regardless of resectability. METHODS: Forty-four patients with multiple (at least two) colorectal liver metastases were enrolled at seven tertiary referral hospitals between May 2007 and September 2010. All patients received the FOLFIRI chemotherapeutic regimen. Response to chemotherapy was assessed after three cycles (6 weeks) and once more after six cycles (12 weeks) of treatment. RESULTS: Objective response was noted in 27 patients (61.4%) and 4 patients (9.1%) had progressive disease. Of 44 patients, 10 patients (22.7%) underwent curative surgery (R0 resection) and 34 patients did not receive R0 resection. Grades 3 to 4 hematological toxicity was noted in 12 patients (27.3%) and grades 3 to 4 nonhematologic toxicity was identified in 5 patients (11.4%). CONCLUSION: FOLFIRI chemotherapy as a neoadjuvant chemotherapy for multiple colorectal liver metastases regardless of resectability demonstrated the possibility of R0 resection, high rate of objective response, and tolerable toxicities in this study.


Subject(s)
Humans , Camptothecin , Colorectal Neoplasms , Liver , Neoadjuvant Therapy , Neoplasm Metastasis , Prospective Studies , Tertiary Care Centers
15.
Journal of the Korean Society of Coloproctology ; : 170-173, 2012.
Article in English | WPRIM | ID: wpr-123773

ABSTRACT

A rectal cancer was found in a 67-year-old man with a history of neurofibromatosis type 1. A low anterior resection was performed, and he received concurrent chemoradiation for 6 months. Twelve months after the surgery, a tumor was found at the anastomotic site by positron emission tomography-computed tomography and colonoscopy and was mistaken as anastomotic site recurrence. The tumor was confirmed as an inflammatory myofibroblastic tumor through transanal excision.


Subject(s)
Aged , Humans , Colonoscopy , Colorectal Neoplasms , Electrons , Myofibroblasts , Neurofibromatoses , Neurofibromatosis 1 , Rectal Neoplasms , Recurrence
16.
Journal of the Korean Society of Coloproctology ; : 89-93, 2012.
Article in English | WPRIM | ID: wpr-184137

ABSTRACT

PURPOSE: The aim of this study was to observe the clinical features of a bezoar-induced small bowel obstruction and to investigate the role of abdominal computed tomography (CT) in establishing the diagnosis. METHODS: We retrospectively reviewed 20 cases of bezoar-induced small bowel obstruction in our hospital from 1996 to 2010. RESULTS: Thirteen patients (65%) had a history of abdominal surgery. Nine patients (45%) were diagnosed with a bezoar before surgery, seven patients were diagnosed by using abdominal CT, and two patients were diagnosed with a small bowel series. Abdominal CT was performed in 15 patients, and the diagnostic accuracy was 47% (7/15). Surgery revealed ten bezoars in the jejunum and 11 in the ileum. Two patients had bezoars found concurrently in the stomach. Spontaneous removal took place in two patients. An enterotomy and bezoar extraction was performed in 15 patients. Fragmentation and milking, a small bowel resection, and a Meckel's diverticulectomy were performed in one patient each. Early operative treatment was possible (P = 0.036) once the bezoar had been diagnosed by using abdominal CT. There tended to be fewer postoperative complications in patients who were diagnosed with a bezoar by using abdominal CT, but the result was not statistically significant (P = 0.712). CONCLUSION: A preoperative diagnosis of bezoar-induced small bowel obstruction by using clinical features was difficult. Increased use of abdominal CT led to a more accurate diagnosis and to earlier surgery for bezoar-induced small bowel obstructions, thereby reducing the rate of complications.


Subject(s)
Humans , Bezoars , Hypogonadism , Ileum , Jejunum , Milk , Mitochondrial Diseases , Ophthalmoplegia , Postoperative Complications , Retrospective Studies , Stomach
17.
Journal of the Korean Surgical Society ; : 205-210, 2012.
Article in English | WPRIM | ID: wpr-15812

ABSTRACT

PURPOSE: The aim of this study was to investigate the incidence and spectrum of malignant tumors in Korean neurofibromatosis type 1 (NF1) patients. METHODS: We retrospectively reviewed 125 patients who were diagnosed with NF1 at a single institution from 1995 to 2010. The incidence, location, histologic type, and radiologic findings of malignant tumors as well as development of multiple primary tumors were analyzed. RESULTS: Eighteen malignant tumors occurred in 16 patients (12.8%) among 125 Korean NF1 patients; 9 carcinomas, 8 sarcomas and 1 central nervous system (CNS) tumor. Five tumors were of nervous system origin and 13 were non-nervous system tumors. The locations of the tumors were as follow: 1 CNS, 2 lung, 3 breast, 3 stomach, 3 small bowel, 1 colon, 1 liver, 1 uterus, 1 neck, and 2 in extremities. Three malignant peripheral nerve sheath tumors (MPNSTs) occurred at the neck and extremity, and one in the liver. All three gastrointestinal stromal tumors (GISTs) had multiple tumors in the jejunum, and one MPNST and one pheochromocytoma were accompanied in two GISTs. Multiple primary tumors, benign or malignant were reported in 4 patients (25.0%), synchronously or metachronously. CONCLUSION: Korean NF1 patients had a high risk of developing malignant tumors. The common malignant tumors in Koreans such as breast, lung and stomach cancers developed frequently in addition to the NF1-related tumors such as MPNST or GIST.


Subject(s)
Humans , Breast , Central Nervous System , Colon , Extremities , Gastrointestinal Stromal Tumors , Incidence , Jejunum , Korea , Liver , Lung , Neck , Nerve Sheath Neoplasms , Nervous System , Neurofibromatoses , Neurofibromatosis 1 , Pheochromocytoma , Retrospective Studies , Sarcoma , Stomach , Stomach Neoplasms , Uterus
18.
Intestinal Research ; : 61-65, 2011.
Article in Korean | WPRIM | ID: wpr-137925

ABSTRACT

Adenocarcinoma is the most common pathologic diagnosis, representing >95% of colorectal cancers; mucinous adenocarcinoma (MA) accounts for 10-15% and SRC accounts for 0.1-2.4% of colorectal cancers. MA is defined as a tumor with > or =50% mucin. Patients with MAs have a poor prognosis, a higher proportion of peritoneal metastases, and present at a more advanced stage of disease. Linitis plastica involving the colon and rectum is usually a metastatic lesion from gastric cancer and other organs, such as the prostate, gallbladder, and breast. Primary linitis plastica of the colon is very rare. We managed a case of colon cancer occurring in a 19-year-old female with a histologic diagnosis of mucinous adenocarcinoma and morphologic features of linitis plastica. Herein we report a rare case of primary linitis plastica of the colon with a review of the literature.


Subject(s)
Female , Humans , Young Adult , Adenocarcinoma , Adenocarcinoma, Mucinous , Breast , Colon , Colonic Neoplasms , Colorectal Neoplasms , Gallbladder , Linitis Plastica , Mucins , Neoplasm Metastasis , Prognosis , Prostate , Rectum , Stomach Neoplasms
19.
Intestinal Research ; : 61-65, 2011.
Article in Korean | WPRIM | ID: wpr-137924

ABSTRACT

Adenocarcinoma is the most common pathologic diagnosis, representing >95% of colorectal cancers; mucinous adenocarcinoma (MA) accounts for 10-15% and SRC accounts for 0.1-2.4% of colorectal cancers. MA is defined as a tumor with > or =50% mucin. Patients with MAs have a poor prognosis, a higher proportion of peritoneal metastases, and present at a more advanced stage of disease. Linitis plastica involving the colon and rectum is usually a metastatic lesion from gastric cancer and other organs, such as the prostate, gallbladder, and breast. Primary linitis plastica of the colon is very rare. We managed a case of colon cancer occurring in a 19-year-old female with a histologic diagnosis of mucinous adenocarcinoma and morphologic features of linitis plastica. Herein we report a rare case of primary linitis plastica of the colon with a review of the literature.


Subject(s)
Female , Humans , Young Adult , Adenocarcinoma , Adenocarcinoma, Mucinous , Breast , Colon , Colonic Neoplasms , Colorectal Neoplasms , Gallbladder , Linitis Plastica , Mucins , Neoplasm Metastasis , Prognosis , Prostate , Rectum , Stomach Neoplasms
20.
Journal of the Korean Surgical Society ; : 276-280, 2011.
Article in English | WPRIM | ID: wpr-76445

ABSTRACT

Multiple jejunalgastrointestinal stromal tumors (GISTs) were found in a 52-year-old woman with a history of neurofibromatosis type 1. These tumors were composed of interlacing fascicles of uniform spindle cells with eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for CD117, CD34 and negative for S-100, smooth muscle actin. Molecular analysis for activating mutations of KIT and PDGFRA was performed in two tumors. Contrary to sporadic GISTs, the NF1-associated GISTs are characterized by rare mutations of KIT or PDGFRA. But, one missense point mutation (Trp557Gly) was identified in KIT exon 11 of the extramural portion of the largest tumor in this case. The intramural portion of the largest tumor and the other tumor had wild type KIT and PDGFRA.


Subject(s)
Female , Humans , Middle Aged , Actins , Cytoplasm , Eosinophils , Exons , Gastrointestinal Stromal Tumors , Muscle, Smooth , Neurofibromatoses , Neurofibromatosis 1 , Point Mutation
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