Codon 201Gly Polymorphic Type of the DCC Gene is Related to Disseminated Neuroblastoma

The deleted in colorectal carcinoma (DCC) gene is a potential tumor-suppressor gene on chromosome 18q21.3. The relatively high frequency of loss of heterozygosity (LOH) and loss of expression of this gene in neuroblastoma, especially in the advanced stages, imply the possibility of involvement of the DCC gene in progression of neuroblastoma. However, only few typical mutations have been identified in this gene, indicating that other possible mechanisms for the inactivation of this gene may exist. A polymorphic change (Arg to Gly) at DCC codon 201 is related to advanced colorectal carcinoma and increases in the tumors with absent DCC protein expression. In order to understand whether this change is associated with the development or progression of neuroblastoma, we investigated codon 201 polymorphism of the DCC gene in 102 primary neuroblastomas by polymerase chain reaction single-strand conformation polymorphism. We found no missense or nonsense mutations, but a polymorphic change from CGA (Arg) to GGA (Gly) at codon 201 resulting in three types of polymorphism: codon 201(Gly) type, codon 201(Arg/Gly) type, and codon 201(Arg) type. The codon 201(Gly) type occurred more frequently in disseminated (stages IV and IVs) neuroblastomas (72%) than in localized (stages I, II, and III) tumors (48%) (P=.035), and normal controls (38%) (P=.024). In addition, the codon 201(Gly) type was significantly more common in tumors found clinically (65%) than in those found by mass screening (35%) (P=.002). The results suggested that the codon 201(Gly) type of the DCC gene might be associated with a higher risk of disseminating neuroblastoma.ope

Intestinal Atresia: A Survey by the Korean Association of Pediatric Surgeons

A survey on intestinal atresia was made among 34 members of Korean Association of Pediatric Surgeons about the patients who were treated from the January 1, 1994 to December 31, 1996. The response rate was 82.4%. Two hundred and fifteen patients were analyzed. The lesion occurred in 73 cases at duodenum, in 72 cases at jejunum, in 71 cases at ileum and 2 cases at cecum and sigmoid colon each. There were 2 cases of combined anomalies (DA + JA + IA and DA + JA). Male to female ratio was 1:1 in duodenal atresia. and 1.8:1 in jejunoileal atresia. Seventy-four cases (34.3%) were premature babies (DA 35.2%, JA:48.6%, IA:19.2%), and 62 cases (28.7%) had low birth weight (DA:39.4%, JA 33.0%, IA:13.7%). Antenatal diagnosis was made in 92 cases (43.6%). However 22 cases (23.9%) of them were transferred to pediatric surgeon after delivery. Maternal polyhydramnios was observed in 63 cases (28.9%). Seventy-five cases (34.4%) were taken only simple abdominal film for diagnostic studies. The associated malformations were observed in 54 cases (24.8%) of intestinal aresia and more frequently observed in duodenal atresia (35 cases, 47.9%). Meconium peritonitis due to intrauterine bowel perforation was more frequently associated with ileal atresia compared to duodenum and jejunum. The overall mortality rate was 30%. (Abbreviations: DA;duodenal atersia, JA;jejunal atresia, IA;ileal atrsia, PT;p-value in total, PDJ,DI,JI;p-value between two groups among duodenal, jejunal and ileal groups)ope

The Antegrade Continence Enema Procedure Using Retubulized Sigmoidostomy

Purpose: A Malone appendicostomy and a Monti ileostomy are effective surgical modalities for treating children with congenital intestinal dysfunction or fecal incontinence. However, a left colonic antegrade continence enema (ACE) has been reported as an alternative. This paper evaluated the efficiency of ACE, using a retubulized sigmoidostomy (RS), for maintaining fecal continence, and its acceptability as a first line surgical treatment. Methods: 11 patients underwent surgery between March 2002 and July 2003: 8 meningomyelocele, 1 cloacal anomaly, 1 anorectal malformation and 1 lipoma of the spine. An RS tube was fashioned, and then implanted using a segment of the sigmoid colon, and exteriorized through the umbilicus. An enema was begun 12 days after surgery using only normal staine. The outcome were assessed after adjusting the appropriate enema regimen for the 11 cases. Results: The mean duration of the enema was 22.0±8.4 minutes, with 250 ml (80~800 ml) as the median volume of fluid used. The enema interval ranged from 1 to 3 days. No patient showed any abdominal discomfort or soiling episodes, with the exception of one that experienced day-time fecal staining, but this occurred less than once per month. The self-cosmesis for the umbilical stoma was satisfactory. Conclusion: The RS procedure provided excellent continence control, with a shortening of the duration of the enema, a lower fluid volume and good cosmesis, without any ACE related abdominal pain, This procedure can be used as the first choice surgical treatment for intractable constipation and fecal incontinence.ope

Two Cases of Papillary Cystic Neoplasm of the Pancreas

Two cases with papillary cystic neoplasm of the pancreas are reviewed and discussed. Up to recently, the tumors have been misclassified as nonfunctioning islet cell tumor or carcinoma, acinar cell carcinoma, papillary cystadenocarcinoma, or pancreatoblastoma. It frequently has been managed with aggressive surgery such as pancreatoduodenectomy. The tumors are well encapsulated and the cut surfaces are characteristically solid and hemorrhagic. Ultrasonography and CT scan are the most useful tools for the diagnosis. The neoplasms usually behave like a very low grade malignancy, so complete removal is the treatment of choice for the tumor arising anywhere in the pancreas. We have a boy and a girl who have papillary cystic neoplasm. The boy was 12 years old and the girl was 14 years old. Both underwent distal pancreatectomy and the progress were uneventful. We have a boy and a girl who have papillary cystic neoplasm. The boy was 12 years old and the girl was 14 years old. Both underwent distal pancreatectomy and the progress were uneventful.ope

Clinical Analysis of Neuroblastoma

Neuroblastoma derived from neural crest cells of the sympathetic nervous system, is the most common extracranial solid tumor in children with many interesting features. It has the highest rate of spontaneous regression, yet has one of the poorest outcome results. Recent updates have shown much increased outcomes in multitreatment approaches and early diagnosis with screening. Authors have studied 42 patients who have been diagnosed and treated in the last decade in the Severance and Yongdong Severance Hospital respectively. They were followed up till January 1998 and was analyzed in terms of age, sexual difference, admission period, staging, diagnostic studies, clinical symptoms and physical examinations, operative time, treatment modalities, survival rate. Twenty eight patients underwent operative procedures, 16 patients had postoperative chemotherapy, and 19 patients had preoperative chemotherapy. Sexual difference was 1.33:1 in favor of males, and 43% of patients were under the age of one year. The patients were initially diagnosed symptomatically, and the abdominal mass was the most common clinical symptom. Eighty six percent of the patients were of advanced stages (>Stage III of INSS), and the 2 year survival rate showed 59.2% and the 5 year survival rate was 29.6%.ope

Arterial embolization for the ruptured splenic artery pseudoaneurysm in a child

Pseudoaneurysm of the splenic artery may arise from a vascular erosion by a surrounding inflammatory processes in acute and chronic pancreatitis. Rupture of the pseudoaneurysm may threaten the patient's life. Conservative management for massive hemorrhage may cause 100 percent mortality and even with prompt therapy there is a high mortality. Preoperative detection of bleeding source is desirable because of the difficult identification of the bleeding site at laparotomy. Angiographic identification and embolization of the hemorrhagic vessels in selected cases may obviate the risk of urgent surgery. The authors have recently managed a case of ruptured splenic artery pseudoaneurysm combined with a pancreatic pseudocyst in a 6 years old boy. A bolus enhanced CT scan and angiography confirmed the diagnosis. We managed this child successfully with the urgent transcatheter arterial embolization followed by elective surgery.ope

Surgical Treatment for the Alveolar Soft Part Sarcoma

Purpose: The aim of this study was to evaluate the clinicopathologic characteristics and the results of surgical treatment for alveolar soft part sarcoma (ASPS) Methods: The clinicopathologic characteristics and surgical treatment results were analyzed retrospectively by reviewing the medical records of 11 patients and interviewing them. Overall survival (OS) was calculated using the Kaplan-Meier method. Results: Of the 11 patients, 5 men and 13 women, the median age at diagnosis was 27 years and the mean tumor diameter was 6.0±1.9 cm. Six patients without distant metastasis at the time of diagnosis were treated with radical resection, and the other 5 with distant metastasis underwent palliative surgery or biopsy only, followed by chemo-radiation therapy. The onset of distant metastasis (40.0±13.5 months) was similar to the onset of local recurrence (43.3±22.4 months) after a radical operation. The most common site of metastasis was the lung, followed by the brain and bone. The median survival was 52 months and the 5-year OS was 27.2%. The 2-year OS in stage Ⅳ disease was 27.7%. The 5-year OS and the disease free survival among the patients with localized disease were 53.3% and 0%, respectively (P=0.043). Conclusion: Complete resection is the primary therapeutic option for ASPS. Close, long-term follow-up is recommended in order to detect recurrence, particularly in the lung, bone and brain. Long term survival can be achieved with aggressive surgery for local recurrence and even distant metastasis.ope

Left Diaphragmatic Eventration Diagnosed as Congenital Diaphragmatic Hernia by Prenatal Sonography

Congenital diaphragmatic eventration is the abnormal elevation of the diaphragm into the thoracic cavity. Sometimes, it is not easy to differentiate congenital diaphragmatic eventration from diaphragmatic hernia by either prenatal sonography or postnatal chest radiography. However, differential diagnosis of both diseases is practical because of different prognosis and surgical approaches. Careful interpretation of postnatal serial chest X-rays is mandatory to differentiate between both diseases. We report two neonates with congenital diaphragmatic eventration of left diaphragm that initially misdiagnosed as diaphragmatic hernia by prenatal sonography and postnatal chest radiography.ope

Differentiated Thyroid Carcinoma in Patients Less than 20 Years of Age at Diagnosis: Clinicopathologic Characteristics and Prognostic Factors

Purpose: This study investigated the clinicopathological characteristics and prognostic factors in young patients with differentiated thyroid carcinoma. Methods: Among the 3,837 patients with DTC who were treated in the Department of Surgery at Yonsei University College of Medicine from March 1986 to March 2005, 71 patients were less than 20 years of age when diagnosed. The mean age was 14.9 years (range, 4～20 years). There were 59 females and 12 males with a mean follow-up period of 91.8 months (range, 14～205 months). Results: The cause specific and the progression-free survivals at 10 years were 100% and 80.3%, respectively. Eleven patients (15%) experienced a recurrence and 1 patient showed a progression of a pulmonary metastasis at diagnosis. Compared with 39 patients older than 15, 32 patients younger than 15 years of age tended to have a higher incidence of a N1b and M1 stage, and a lower progression-free survival rate. Univariate analysis revealed that an age ≤15 years, multicentricity, N1b stage, M1 stage, and bilateral radical neck dissection had a negative impact on the progression-free survival. However, multivariate analysis showed that the age at diagnosis and the M1 stage were independent prognostic factors for progression- free survival. Conclusion: Being younger 15 years and the M1 stage are the most significant prognostic factors negatively influencing the progression-free survival. The high incidence of lateral neck and lung metastasis justifies a total thyroidectomy and modified radical neck dissection, followed by postoperative 131I therapy even in patients younger than 15 years of age.ope

Anti-apoptosis Gene, Survivin Expression and Prognosis of Neuroblstoma

Purpose: The prognostic significance of survivin expression (SE), which has been reported to be an inhibitor of apoptosis protein, was examined in order to identify a more accurate prognostic grouping of neuroblastomas. Methods: Thirty-seven tumor specimens were obtained between 1992 and 2002. The SE level was examined by immunohistochemical techniques using paraffin-embedded tissues, and was scored as being positive when more than 5% of the cells reacted with the anti-survivin antibody. The outcome of the stratified potential prognostic groups was evaluated according to age, location, stage, Shimada class and SE. The correlation between the SE level and the prognostic factors were analyzed using a univariate assessment. The predictive value of SE in the prognosis was determined using a multivariate assessment. Results: The median follow up period was 23 months. The 5-year overall survival rate was significantly reduced with an advanced stage, adrenal primary, unfavorable Shimada class and positive SE (P=.01, .01, .02 and .00). A positive SE was correlated with old age, advanced stage and an unfavorable Shimada class (P=.03, .00 and .03). The relative risk of the SE positive group was 5.20 (P=.01). Survivin was expressed in 73% of recurred cases, but in only 31% of non-recurred cases (P=.04). Conclusions: Survivin expression is a valid independent prognostic factor for a neuroblastoma, which correlates with the disease progression and a poor prognosis.ope