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1.  A Genome-Wide Association Study Identifies Potential Susceptibility Loci for Hirschsprung Disease 
PLoS ONE  2014;9(10):e110292.
Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder characterized by the absence of intramural nervous plexuses along variable lengths of the hindgut. Although RET is a well-established risk factor, a recent genome-wide association study (GWAS) of HSCR has identified NRG1 as an additional susceptibility locus. To discover additional risk loci, we performed a GWAS of 123 sporadic HSCR patients and 432 unaffected controls using a large-scale platform with coverage of over 1 million polymorphic markers. The result was that our study replicated the findings of RET-CSGALNACT2-RASGEF1A genomic region (rawP = 5.69×10−19 before a Bonferroni correction; corrP = 4.31×10−13 after a Bonferroni correction) and NRG1 as susceptibility loci. In addition, this study identified SLC6A20 (adjP = 2.71×10−6), RORA (adjP = 1.26×10−5), and ABCC9 (adjP = 1.86×10−5) as new potential susceptibility loci under adjusting the already known loci on the RET-CSGALNACT2-RASGEF1A and NRG1 regions, although none of the SNPs in these genes passed the Bonferroni correction. In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was observed to have different significance levels among subgroups: short-segment (S-HSCR, corrP = 1.71×10−5), long-segment (L-HSCR, corrP = 6.66×10−4), and total colonic aganglionosis (TCA, corrP>0.05). This differential pattern in the significance level suggests that other genomic loci or mechanisms may affect the length of aganglionosis in HSCR subgroups during enteric nervous system (ENS) development. Although functional evaluations are needed, our findings might facilitate improved understanding of the mechanisms of HSCR pathogenesis.
doi:10.1371/journal.pone.0110292
PMCID: PMC4195606  PMID: 25310821
2.  Hepatoblastoma: 15-year experience and role of surgical treatment 
Purpose
Hepatoblastoma is the most common malignant liver tumor in children. The aim of this study was to review our results of hepatoblastoma treatment and to determine the role of surgical treatment in hepatoblastoma.
Methods
This is a retrospective clinical study. The medical records of patients with hepatoblastoma, treated between October 1994 and October 2009, were reviewed. The patients were classified according to the pretreatment extent of disease (PRETEXT) grouping system. The main outcome variable was survival. Secondary outcome variables were complete, partial and no response to chemotherapy and surgery, when indicated.
Results
Twenty-seven patients were treated during the observation period. Eighteen were males. Five were PRETEXT group I, 8 group II, 13 group III and 1 group IV. Complete excision was achieved in all patients except in one case that underwent liver transplantation (group IV). Median follow-up and survival rate were 2.3 years and 100%, 6.6 years and 75%, 5.8 years and 92%, 7.7 years and 100%, for groups I to IV, respectively. Twenty patients are currently considered to be in complete response status and three patients are receiving postoperative chemotherapy. Four patients died; the causes of death were cytomegalovirus hepatitis, bone marrow suppression during adjuvant chemotherapy, primarynonfunction after the transplantation for recurrent tumor and metachronous rectal cancer, respectively.
Conclusion
Favorable long-term outcome could be expected for hepatoblastoma with complete tumor excision and adjuvant chemotherapy.
doi:10.4174/jkss.2011.81.2.134
PMCID: PMC3204570  PMID: 22066113
Hepatoblastoma; Surgery; Drug therapy; Transplantation
3.  Fibrous hamartoma of infancy: an experience of a single institute 
Purpose
Fibrous hamartoma (FH) of infancy is a distinctive fibrous growth that most frequently occurs at birth and during the postnatal period. It is important for clinicians and pathologists to recognize this entity to avoid an aggressive approach.
Methods
We herein describe the clinicopathologic features of 9 FHs diagnosed at a single institution between 1997 and 2010.
Results
There were 7 boys and 2 girls, and the mean age of presentation was 14.7 months. The common locations were the lower back and gluteal region (n = 3) and scrotum (n = 2). They were solitary lesions, and measured 1.0 to 7.0 cm in maximum diameter (mean, 4.9 cm). The excised masses tended to be poorly circumscribed, and consisted of an intimate mixture of firm, gray-white tissue with fat. Histologically, these lesions were composed of 3 components forming a vague, irregular, organoid pattern: well-defined intersecting trabeculae of fibrocollagenous tissue; loosely textured areas of small, rounded, primitive mesenchymal cells; and mature fat. Over a median follow-up of 72 months, no patient showed recurrence.
Conclusion
FH should be distinguished from other forms of fibromatosis and malignant tumors because it is benign and usually cured by local excision.
doi:10.4174/jkss.2011.81.1.61
PMCID: PMC3204559  PMID: 22066102
Hamartoma; Infant; Soft tissue neoplasms; Differential diagnosis; Fibromatosis
4.  Desmoplastic small round cell tumor of the stomach mimicking a gastric cancer in a child 
Journal of the Korean Surgical Society  2011;80(Suppl 1):S80-S84.
Intra-abdominal desmoplastic small round cell tumor (DSRCT) is a highly malignant tumor of uncertain histogenesis. Here we report a case of DSRCT involving the stomach, initially misdiagnosed as gastric cancer. A 12-year-old boy presented with upper abdominal pain developed 1 month prior. On gastroscopy, a 7-cm mass was noted involving the esophago-gastric junction to the fundus, and positron emission tomography showed multiple hot uptakes suggesting distant metastasis. Gastroscopic biopsy showed poorly differentiated malignant cells. We diagnosed as stage IV gastric cancer and treated with 6 cycles of chemotherapy. Laparotomy revealed a huge gastric mass along with peritoneal disseminations. Palliative proximal gastrectomy was performed. Pathological examination revealed transmural involvement of DSRCT, and t(11;22)(p12;q12) was demonstrated on fluorescence in situ hybridization test. The chemotherapeutic regimen was changed and the patient underwent 8 additional cycles of post-operative chemotherapy. The patient is now alive and the residual tumor shows no significant changes after chemotherapy.
doi:10.4174/jkss.2011.80.Suppl1.S80
PMCID: PMC3205364  PMID: 22066092
Stomach; Desmoplastic small round cell tumor; Children
5.  A Single Center Experience of Self-Bougienage on Stricture Recurrence after Surgery for Corrosive Esophageal Strictures in Children 
Yonsei Medical Journal  2010;51(2):202-205.
Purpose
This study was undertaken to evaluate the long-term treatment of esophageal strictures in children with corrosive esophagitis and to determine the effect of self-bougienage on recurrent strictures.
Materials and Methods
We reviewed the medical records of nine children that were treated for corrosive esophageal strictures from May 2000 to May 2008. Six males and three females were included and their average age was 30 months. Six patients had ingested acids, two patents had ingested alkali, and one ingested an unknown agent.
Results
The interval between caustic ingestion and esophageal stricture ranged from one to eight weeks. The average length of the esophageal strictures was 3.8 cm (range, 1 to 9.2 cm). Four patients had a long segment stricture (longer than 5 cm) and one patient had multiple strictures. The most common site of involvement was the upper third followed by the mid third of the esophagus. Eight patients received repeated dilatation using a balloon catheter or bougie dilator. Among the eight patients, two patients had complete resolution of symptoms and six patients required surgery. Among five patients that developed restenosis of the esophageal anastomosis site, three patients had improved symptoms after self-bougienage and two patients had improved symptoms with repeated balloon dilatation or endoscopic bougienage. There were no complications in these patients.
Conclusion
Although a small number of patients were studied, self-bougienage was safe, less invasive, and effective for the management of esophageal restenosis in patients who required frequent dilation after surgery.
doi:10.3349/ymj.2010.51.2.202
PMCID: PMC2824864  PMID: 20191010
Corrosive esophageal stricture; restenosis; bougie dilatation; balloon dilatation; self-bougienage
6.  Withdrawal of Immunosuppression in Pediatric Liver Transplant Recipients in Korea 
Yonsei Medical Journal  2009;50(6):784-788.
Purpose
We identified pediatric liver transplant recipients with successful withdrawal of immunosuppression who developed tolerance in Korea.
Materials and Methods
Among 105 pediatric patients who received liver transplantation and were treated with tacrolimus-based immunosuppressive regimens, we selected five (4.8%) patients who had very low tacrolimus trough levels. Four of them were noncompliant with their medication and one was weaned off of immunosuppression due to life threatening posttransplant lymphoproliferative disorder. We reviewed the medical records with regard to the relationship of the donor-recipients, patient characteristics and prognosis, including liver histology, and compared our data with previous reports.
Results
Four patients received the liver transplantation from a parent donor and one patient from a cadaver donor. A trial of withdrawal of the immunosuppressant was started a median of 45 months after transplantation (range, 14 months to 60 months), and the period of follow up after weaning from the immunosuppressant was a median of 32 months (range, 14 months to 82 months). None of the five patients had rejection episodes after withdrawal of the immunosuppression; they maintained normal graft function for longer than 3 years (median, 38 months; range, 4 to 53 months). The histological findings of two grafts 64 and 32 months after weaning-off of the medication showed no evidence of chronic rejection.
Conclusion
The favorable markers for successful withdrawal of immunosuppression were 1) long-term (> 3 years) stable graft function, 2) no rejection for longer than 1 year after withdrawal of immunosuppression, 3) non-immune mediated liver diseases, and 4) pediatric patients.
doi:10.3349/ymj.2009.50.6.784
PMCID: PMC2796404  PMID: 20046418
Pediatric liver transplantation; withdrawal of immunosuppression; tacrolimus

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