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Abstract Background Typically, in cases of adenomatous polyposis, colorectal cancer develops in the third or fourth decade of life. We report the case of a female patient with colorectal polyposis who developed adenocarcinoma at 8 years of age. Case presentation An 8-year-old girl was admitted with a 4-year history of occasional bloody stools. Colonoscopy revealed colon polyposis and histopathological assessment confirmed a well-differentiated adenocarcinoma in the adenomatous polyps, so laparoscopy-assisted proctocolectomy was performed in the lithotomy position by a simultaneous abdominal and anal approach. To completely resect the rectal mucosa, excision was commenced just distal to the dentate line. After the mucosal resection up to the peritoneal reflection level, an inverted muscular cuff was cut circumferentially, and the terminal ileum was pulled through the muscular cuff and anastomosed to the anal canal. Histopathology revealed multiple adenomatous polyps and scattered well-differentiated tubular adenocarcinomas (tub1) in the adenomatous polyps and the non-polypoid mucosal lesions. Because complete resection was achieved, additional adjuvant chemotherapy was not administered. Polymerase chain reaction (PCR)-direct sequencing of the entire coding region and the exon–intron junctions, and real-time PCR of DNA extracted from blood cells, revealed no mutations of either APC or MUTYH. No deletions, duplications, translocations or inversions of APC, MUTYH and GREM1 genes were found using multiplex ligation-dependent probe amplification (MLPA) and G-banding analysis. Multi-gene panels sequencing for polyposis syndromes or hereditary colorectal cancers, and trio-whole exome sequencing was conducted. However, no candidate pathogenic variants of genes were detected in de novo dominant or autosomal recessive model. Somatic mutation of APC was not detected in 4 polyps by loss of heterozygosity analysis at a single nucleotide polymorphism in intron 14. The patient has remained disease-free for 5 years. Currently, the patient is on loperamide and passes stool 5 times/day without any soiling. Conclusions The genetic analysis suggests that she may have a germline mutation at unscreened region of these genes or in unidentified FAP gene. The patient will be carefully followed up for residual rectal carcinoma and for the development of other cancers.

Inflammatory myofibroblastic tumor (IMT) of the urinary bladder is a rare soft tissue tumor characterized by spindle cell proliferation with inflammatory cell infiltration. We present a case of bladder IMT occurring in a 6-year-old boy. Pretreatment CT images depicted a polypoid and broad-based mass measuring 18 mm in the superior to the front wall of the bladder, and the mass showed isodensity on precontrast image and ring enhancement of the mass after the intravenous administration of contrast material. Pelvic MRI demonstrated the 18 × 17 × 16 mm broad-based mass, suggesting submucosal tumor in the dome of the bladder. The mass showed low-to-moderate signal intensity on T1-weighted images and slight high signal intensity on T2-weighted images and restricted diffusion with low signal intensity on ADC map and abnormal high signal intensity on DWI. Transurethral resection of the bladder tumor and partial cystectomy were undertaken, and the pathology revealed IMT of the bladder. We suggest its inclusion in the differential diagnosis of cases of a polypoid and broad-based mass on the superior wall or the front wall of the bladder with ring enhancement on contrast-enhanced CT and MRI.

A congenital fistula between the lateral buttock and postanal dermal sinus tracts with a low-type anorectal malformation has not been previously reported. The aim of this study was to clarify the clinical characteristics and optimal surgical management of this condition. Three female patients were noted to have a pit in the left upper lateral buttock and a postanal orifice. Fistulography and magnetic resonance imaging showed no connection between the pit and orifice in the first case and a connection in the second and third cases. In the first case, surgical exploration showed firm tracts from both the lateral buttock and postanus running deep to the tip of the coccyx, with a thin cord between them. The tracts were excised, but the cord was left. In the second and third cases, the fistula was excised. The center of the sphincter muscle was placed at the postanal orifice in all three cases; thus, anal transplantation was performed. Histopathological examination showed stratified squamous epithelium of the skin in the wall of the fistula. The first case developed a pelvic abscess 22 months after surgery. Therefore, complete excision is crucial to minimize the risk of postoperative pelvic abscess.

To identify prognostic factors, array CGH (aCGH) patterns and mutations in WT1 and 9 other genes were analyzed in 128 unilateral Wilms tumors (WTs). Twenty patients had no aCGH aberrations, and 31 had WT1 alterations [silent and WT1 types: relapse-free survival (RFS), 95% and 83%, respectively]. Seventy-seven patients had aCGH changes without WT1 alterations (nonsilent/non-WT1 type) and were subtyped into those with or without +12, 11q−, 16q−, or HACE1 loss. RFS was better for those with than those without +12 (P = .010) and worse for those with than those without 11q−, 16q−, or HACE1 loss (P = .001, .025, or 1.2E-04, respectively). Silent and WT1 type and 8 subtype tumors were integrated and classified into 3 risk groups: low risk for the silent type and +12 subgroup; high risk for the no +12 plus 11q−, 16q−, or HACE1 loss subgroup; intermediate risk for the WT1 type and no +12 plus no 11q−, 16q−, or HACE1 loss subgroup. Among the 27 WTs examined, the expression of 146 genes on chromosome 12 was stronger in +12 tumors than in no +12 tumors, while that of 10 genes on 16q was weaker in 16q− tumors than in no 16q− tumors. Overexpression in 75 out of 146 upregulated genes and underexpression in 7 out of 10 downregulated genes correlated with better and worse overall survival, respectively, based on the public database. +12 was identified as a potential new marker predicting a favorable outcome, and chromosome abnormalities may be related to altered gene expression associated with these abnormalities.

In the JPLT3 study, a real-time central surgical reviewing (CSR) system was employed aimed at facilitating early referral of candidates for liver transplantation (LTx) to centers with pediatric LTx services. The expected consequence was surgery, including LTx, conducted at the appropriate time in all cases. This study aimed to review the effect of CSR on institutional surgical decisions in cases enrolled in the JPLT3 study. Real-time CSR was performed in cases in which complex surgeries were expected, using images obtained after two courses of preoperative chemotherapy. Using the cloud-based remote image viewing system, an expert panel consisting of pediatric and transplant surgeons reviewed the images and commented on the expected surgical strategy or the necessity of transferring the patient to a transplant unit. The results were summarized and reported to the treating institutions. A total of 41 reviews were conducted for 35 patients, and 16 cases were evaluated as possible candidates for LTx, with the treating institutions being advised to consult a transplant center. Most of the reviewed cases promptly underwent definitive liver surgeries, including LTx per protocol.

Right paraduodenal hernia (RPH) has been recently reported to be treated with laparoscopic surgery. We report a case of strangulated ileus that occurred as a result of RPH treated via a small umbilical incision. An 11-year-old boy presented to our hospital with complaints of sudden upper abdominal pain associated with bilious vomiting and bloody stool. We preoperatively diagnosed the case to be strangulated ileus caused by an internal hernia and thus performed emergency surgery. After the entire small intestine was carefully exteriorized via a small umbilical incision, a strangulated ileus as a result of the internal hernia was observed. A large hernia sac with its orifice on the right side of the jejunal origin was found behind the right mesocolon, on the basis of which the diagnosis of RPH was made. After releasing the strangulation, the ischemic intestine was reperfused. The hernia orifice was closed. All the abovementioned procedures were transumbilically performed. The patient's postoperative course was uneventful. An umbilical approach is useful for treating RPH because of its favorable cosmetic outcome. In addition, manual delivery of the herniated or incarcerated intestine provides a sense of safety compared with operation using forceps during laparoscopic surgery.

A mature teratoma of the pancreas has rarely been reported, and postoperative superior mesenteric artery syndrome (SMAS) is extremely rare in pediatric pancreatic surgery. A 12-year-old girl underwent an enucleation of the large mature teratoma located at the pancreas uncus. Although her postoperative recovery was fair, the bile-stained gastric juice continued draining at a rate of>1.5 l per day for 2 weeks. An upper gastrointestinal series revealed an abrupt disruption with to-and-fro peristalsis at the third portion of the duodenum. Endoscopy revealed an extrinsic pulsatile compression of this third portion. The aortomesenteric angle measured 12° on ultrasonography, which met the criteria for SMAS. The patient underwent a modified transposition procedure, “switching jejunojejunostomy,” on postoperative day 18. The gastrointestinal passage gradually improved, and complete oral intake was established 1 month after the first surgery. It was considered that the clinical symptoms of SMAS were caused by an anatomical deformation after the pancreatic tumor resection. Switching jejunojejunostomy was found to be an acceptable therapeutic option for this condition.

Transmesenteric hernia is abdominal visceral herniation through a congenital or acquired mesenteric defect. Treves' field is the area of terminal ileal mesentery circumscribed by the ileocolic artery and its last ileal branch. It is very susceptible to congenital defects. To clarify the clinical course of congenital Treves' field transmesenteric hernia (cTFTH), we retrospectively reviewed pediatric cases and conducted a literature review. Five consecutive pediatric cTFTH cases (one male, four females) underwent emergency laparotomy at our institutions from April 2009 and December 2014. We analyzed their demographics, preoperative findings, surgical procedures, and outcomes, along with a literature review. Abdominal plain X-ray showed displaced intestinal gas with gas paucity in the center of the abdomen in two cases and diffusely increased intestinal gas in two others. Abdominal computed tomography (CT) in four cases showed intestinal loop clusters, mesenteric vessel changes, small-bowel obstruction, and ascites. All cases underwent emergency laparotomy for ileal resection with ileocecal valve preservation. Simultaneous anastomoses were performed in four cases; the remaining case underwent ileostomy because of prematurity. Although one case needed reoperation for postoperative bowel obstruction, all patients survived. Literature review of pediatric cTFTH showed a high frequency of necrosis (70.5%) and mortality (26.5%). Among pediatric cTFTH cases, 67.6% were aged

Cancer stem cells (CSCs) are defined as a small population of cancer cells with the properties of high self-renewal, differentiation, and tumor-initiating functions. Recent studies have demonstrated that aldehyde dehydrogenase 1 (ALDH1) is a marker for CSCs in adult cancers. Although CSCs have been identified in some different types of pediatric solid tumors, there have been no studies regarding the efficacy of ALDH1 as a marker for CSCs. Therefore, in order to elucidate whether ALDH1 can be used as a marker for CSCs of pediatric sarcoma, we examined the characteristics of a population of cells with a high ALDH1 activity (ALDH1high cells) in rhabdomyosarcoma (RMS), the most common soft tissue sarcoma in children. We used the human embryonal RMS (eRMS) cell lines RD and KYM-1, and sorted the cells into two subpopulations of ALDH1high cells and cells with a low ALDH1 activity (ALDH1low cells). Consequently, we found that the ALDH1high cells comprised 3.9% and 8.2% of the total cell population, respectively, and showed a higher capacity for self-renewal and tumor formation than the ALDH1low cells. With regard to chemoresistance, the survival rate of the ALDH1high cells was found to be higher than that of the ALDH1low cells following treatment with chemotherapeutic agents for RMS. Furthermore, the ALDH1high cells exhibited a higher degree of pluripotency and gene expression of Sox2, which is one of the stem cell markers. Taken together, the ALDH1high cells possessed characteristics of CSCs, including colony formation, chemoresistance, differentiation and tumor initiation abilities. These results suggest that ALDH1 is a potentially useful marker of CSCs in eRMS.