Mast Cell-related Prognosis Signature Characterizes Immune Landscape and Predicts Prognosis of Ovarian Cancer.

BACKGROUND/AIM: Ovarian cancer (OVC) is a common, aggressive, and heterogeneous malignancy, with a widely variable prognosis. With the advances of modern immunology, mast cells (MCs) have been shown to play a significant role in the prognosis of some malignant tumors. However, the role of mast cells in the prognosis of OVC is unknown. MATERIALS AND METHODS: In this study, MC-associated prognostic genes (MRGs) were used to classify OVC from The Cancer Genome Atlas (TCGA)-OVC cohort. Genes were evaluated using univariate cox regression analysis. Twenty-nine prognostic gene signatures were identified using LASSO-COX analysis. COX regression models and principal component analysis (PCA) algorithms were used to construct MRG scores and individual MRGs patterns. External validation was performed in the TCGA-breast cancer (BRCA) and IMvigor210 cohorts. Immunity analysis based on MRGs was performed using CIBERSORT, and GSVA methods, and immunotherapy response was evaluated using the TIDE website. RESULTS: Using TCGA-OVC data, we established a model for constructing MRG scores based on the twenty-nine identified prognostic gene signatures using the PCA algorithm. MRG scores were found to be strongly correlated with immune cell infiltration and were excellent predictors of prognosis in patients with OVC. Low MRG scores were associated with better prognosis and better response to immunotherapy and chemotherapy. CONCLUSION: MC-related prognosis signature characterizes the immune landscape and predicts the prognosis of OVC. Understanding the correlation between MC-related gene signatures and immunotherapy and chemotherapy may improve the development of personalized clinical treatment strategies.

Case report: Epigastric heteropagus twins and literature review.

Epigastric heteropagus twins are an extremely rare congenital anomaly of conjoined twins. We present a case of epigastric heteropagus twins who were diagnosed via prenatal ultrasound imaging: the fetus (or host) was connected to the abdominal wall of the parasite (the dependent portion), and an omphalocele was present. The male infant was delivered by cesarean section at 35 + 5 weeks gestation. The parasite lacked a head and heart and presented long bones of the limbs. After abdominal computed tomography, omphalocele repair, and parasite removal were surgically performed under general anesthesia. After discharge (follow-up, 3 months), the infant is currently growing well and is healing satisfactorily. Forty-one cases of epigastric heteropagus twins were retrieved from database searches: 38 good postoperative outcomes, 2 perioperative deaths, and 1 termination. The case highlights that even when parasites are massive in size, births can present good outcomes with suitable surgical treatment.

Case Report: Anal canal duplication associated with anorectal stenosis-A rare presentation.

Anal canal duplication is a rare gastrointestinal malformation characterized by extra anal orifices at 6 o'clock in the lithotomy position. To date, there have been only 110 reported cases. The purpose of this study is to contribute two infant cases, one of which is associated with anorectal stenosis, which has never been described.

Extratesticular gliomatosis peritonei after mesenteric teratoma: a case report and literature review.

Mesenteric teratoma is a rare extragonadal teratoma. Gliomatosis peritonei (GP) is mature glial tissue implanted into the peritoneum's surface and is mainly accompanied by ovarian teratoma. Only a few cases of gliomatosis have occurred in the extraperitoneum. We present a rare case of a 3-year-old boy who presented with extratesticular GP after excision of an immature mesenteric teratoma at 2 months old. After the extratesticular mass was excised, we found ductile tissue on the surface of the terminal spermatic cord and epididymis. Some ductile tissue of the epididymis was removed and sent to a laboratory for a pathological examination. The mass and the ductile tissue of the epididymis had a hard consistency. The pathological diagnosis was extratesticular gliomatosis. Complete surgical resection of the teratoma and GP is helpful for identifying the presence of malignant lesions and for preventing malignant transformation. However, characteristics of GP lesions are extensive and they are difficult to completely remove. Moreover, GP is usually benign. Therefore, the residual GP tissue was not completely removed in our case. The child is still in good health, but requires lifelong follow-up. In conclusion, we report our experience of a rare case of extraperitoneal GP from an extragonadal teratoma.

Common genetic variants of GPC1 gene reduce risk of biliary atresia in a Chinese population.

BACKGROUND: Biliary atresia (BA) is a major neonatal cholestatic disease and main indication for pediatric liver transplantation in the world. Recently, GPC1 has been implicated as a risk gene for BA by genetic studies and follow-up functional experiments on zebrafish. METHODS: Two common genetic variants of GPC1, rs2292832 and rs3828336, were selected systematically through 'SNPinfo', and were examined using TaqMan Genotyping Assays for association studies in a Chinese population containing 134 cases and 618 controls. RESULTS: Of the two single nucleotide polymorphisms (SNPs), we found a significantly decreased BA risk associated with rs2292832 (additive model: OR=0.638, 95% CI: 0.467-0.873, P=0.005), and a marginal effect for rs3828336 (heterozygous model: OR=0.564, 95% CI: 0.312-1.020, P=0.058). The haplotype analysis indicated that either Crs2292832-Crs3828336&Trs3828336 or Trs2292832-Trs3828336 conferred a protective effect from BA (OR=0.569, 95% CI=0.414-0.783, P<0.001; OR=0.528, 95% CI: 0.301-0.926, P=0.026). Moreover, bioinformatics analysis suggested that rs2292832 altered GPC1 expression via effect on transcription-factor-binding sites (TFBS) of upstream binding transcription factor (UBTF), as a regulatory DNA variation in Deoxyribonuclease I (DNase I) hypersensitive sites (DHSs). CONCLUSION: Common variants of GPC1 gene were genetically involved in BA risk.

Association between single nucleotide polymorphisms in the ADD3 gene and susceptibility to biliary atresia.

BACKGROUND AND OBJECTIVES: Based on the results of previous studies, the ADD3 gene, located in the 10q24.2 region, may be a susceptibility gene of biliary atresia (BA). In this study, two single nucleotide polymorphisms (SNPs) in the ADD3 gene, rs17095355 C/T and rs10509906 G/C, were selected to investigate whether there is an association between these SNPs and susceptibility to BA in a Chinese population. METHODS: A total of 752 Han Chinese (134 BA cases and 618 ethnically matched healthy controls) were included in the present study. The ADD3 gene polymorphisms were genotyped using a TaqMan genotyping assay. RESULTS: Positive associations were found for the SNP rs17095355 in the codominant model; specifically, the frequencies of the CT and TT genotypes and the T allele were higher in the cases than the controls, demonstrating a significant risk for BA (odds ratio [OR] = 1.62, 95% confidence interval [CI] = 1.02-2.58; OR = 2.89, 95% CI = 1.72-4.86; and OR = 1.75, 95% CI = 1.34-2.29, respectively). Regarding rs10509906, the per-C-allele conferred an OR of 0.70 (95% CI = 0.49-1.00) under the additive model. A greater risk of BA was associated with the T(a)-G(b) (a for rs17095355 and b for rs10509906) haplotype (OR = 1.82, 95% CI = 1.27-2.61) compared with the C(a)-C(b) haplotype. CONCLUSION: This study suggests that the ADD3 gene plays an important role in BA pathogenesis and reveals a significant association between two SNPs, rs17095355 and rs10509906, and BA.

Early experience with laparoscopic excision of choledochal cyst in 41 children.

OBJECTIVE: This study aims to review our center's early experience in managing children with choledochal cysts using laparoscopic excision. METHODS: A retrospective study was carried out from the time of our first case of laparoscopic excision (2010). A total of 41 patients with choledochal cysts underwent laparoscopic choledochal cyst excision and Roux-en-Y hepaticojejunostomy. Patient demographics, operative data, and post-operative outcomes were recorded and analyzed. RESULTS: Forty patients underwent the operation successfully, and the mean time of operation was 210 min (range 140 min to 380 min). One case was converted to an open operation due to dense adhesions. All patients recovered uneventfully and were discharged between seven and ten days post-operatively. Four patients suffered minor bile leaks after their operations, but they required only percutaneous drainage. The mean time for follow-up was six months (range 1 month to 1 year). No significant complication was noted during that time. CONCLUSIONS: We successfully introduced laparoscopic excision of choledochal cyst in our center and have found this to be a safe and effective method. Long-term follow up is awaited.

Lack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population.

BACKGROUND: Infantile hypertrophic pyloric stenosis (IHPS) is one of the most common gastrointestinal obstructions in the infancy requiring surgery. Reduced expression of neuronal nitric oxide synthase (nNOS), which plays an important role in the regulation of the human pyloric muscle, is thought to underlie IHPS. The role of nNOS in IHPS has been supported by the genetic association of a functional regulatory nNOS polymorphism (-84G>A) with IHPS in whites. We reasoned that the corroboration of this association in a population of different ethnic origin would prompt follow-up studies and further investigation of the IHPS pathology at molecular level. Thus, we attempted to reproduce the original findings in a Chinese population of comparable size in what would be the first genetic study on IHPS conducted in Chinese. METHODS: nNOS -84G>A genotypes were analyzed in 56 patients and 86 controls by polymerase chain reaction and DNA sequencing. Logistic regression was used to compute odds ratios. RESULTS: Our study could not corroborate the association previously reported. Although the frequency of the IHPS-associated allele (-84A) in controls (0.205) was similar to that reported for white controls, there was a dramatic difference in -84A frequencies between white and Chinese patients (0.198). Similarly, there was no difference in the nNOS -84G>A genotype distribution between patients and controls, even when the GA and AA genotypes were combined to compare GG genotype (odds ratio, 1.01; 95% confidence interval, 0.47-2.19). CONCLUSIONS: Failure to replicate the initial finding does not detract from its validity, because genetic effects may differ across populations. Differences across populations in linkage disequilibrium and/or allele frequencies may contribute to this lack of replication. The role nNOS in IHPS awaits further investigation.