Why MUC16 mutations lead to a better prognosis: A study based on The Cancer Genome Atlas gastric cancer cohort

paythelady.612 shared this article with you from Inoreader Why <em>MUC16</em> mutations lead to a better prognosis: A study based on The Cancer Genome Atlas gastric cancer cohort Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Jun 16;9(17):4143-4158. doi: 10.12998/wjcc.v9.i17.4143. ABSTRACT BACKGROUND: MUC16, encoding cancer antigen 125, is a frequently mutated gene in gastric cancer. In addition, MUC16 mutations seem to result in a better prognosis in gastric cancer. However, the mechanisms that lead to a better prognosis by MUC16 mutations have not yet been clarified. AIM: To delve deeper into the underlying mechanisms that explain why MUC16 mutations signal a better prognosis in gastric cancer. METHODS: We used multi-omics data, including mRNA, simple nucleotide variation, copy number variation and methylation data from The Cancer Genome Atlas, to explore the relationship between MUC16 mutations and prognosis. Cox regression and random survival forest algorithms were applied to search for hub genes. Gene set enrichment analysis was used to elucidate the molecular mechanisms. Single-sa mple gene set enrichment analysis and "EpiDISH" were used to assess immune cells infiltration, and "ESTIMATE" for analysis of the tumor microenvironment. RESULTS: Our study found that compared to the wild-type group, the mutation group had a better prognosis. Additional analysis indicated that the MUC16 mutations appear to activate the DNA repair and p53 pathways to act as an anti-tumor agent. We also identified a key gene, NPY1R (neuropeptide Y receptor Y1), which was significantly more highly expressed in the MUC16 mutations group than in the MUC16 wild-type group. The high expression of NPY1R predicted a poorer prognosis, which was also confirmed in a separate Gene Expression Omnibus cohort. Further susceptibility analysis revealed that NPY1R might be a potential drug target for gastric cancer. Furthermore, in the analysis of the tumor microenvironment, we found that immune cells in the mutation group exhibited higher anti-tumor eff ects. In addition, the tumor mutation burden and cancer stem cells index were also higher in the mutation group than in the wild-type group. CONCLUSION: We speculated that the MUC16 mutations might activate the p53 pathway and DNA repair pathway: alternatively, the tumor microenvironment may be involved. PMID:34141777 | PMC:PMC8173414 | DOI:10.12998/wjcc.v9.i17.4143 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Primary intratracheal schwannoma misdiagnosed as severe asthma in an adolescent: A case report

paythelady.612 shared this article with you from Inoreader Primary intratracheal schwannoma misdiagnosed as severe asthma in an adolescent: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Jun 16;9(17):4388-4394. doi: 10.12998/wjcc.v9.i17.4388. ABSTRACT BACKGROUND: Primary intratracheal schwannoma is an extremely rare type of benign airway tumor, especially in adolescents. The presenting symptoms are typically prolonged cough and wheezing that can be misdiagnosed as asthma in adolescent patients. CASE: A 16-year-old adolescent girl admitted to a local hospital with symptoms of an irritating cough and wheezing was diagnosed with bronchial asthma and treated with budesonide and formoterol. Over the next year, the patient's wheezing and coughing symptoms gradually worsened and the antiasthma treatment was ineffective. One week prior to this admission, the patient developed dyspnea after catching a cold and was transferred to our hospital with a diagnosis of severe asthma. However, chest computed tomography and bronchoscopy showed a mass in the trachea. Primary intratracheal schwannoma was diag nosed by biopsy. Her symptoms were relieved by endoscopic resection by electrosurgical snaring combined with argon plasma coagulation. No relapse occurred during an 18 mo follow-up. CONCLUSION: Primary intratracheal schwannoma should be considered in the differential diagnosis in adolescents with recurrent asthma-like attacks. PMID:34141805 | PMC:PMC8173418 | DOI:10.12998/wjcc.v9.i17.4388 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Self-perceived burden and influencing factors in patients with cervical cancer administered with radiotherapy

paythelady.612 shared this article with you from Inoreader Self-perceived burden and influencing factors in patients with cervical cancer administered with radiotherapy Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Jun 16;9(17):4188-4198. doi: 10.12998/wjcc.v9.i17.4188. ABSTRACT BACKGROUND: Cervical cancer is the fourth commonest malignancy in women around the world. It represents the second most commonly diagnosed cancer in South East Asian women, and an important cancer death cause in women of developing nations. Data collected in 2018 revealed 5690000 cervical cancer cases worldwide, 85% of which occurred in developing countries. AIM: To assess self-perceived burden (SPB) and related influencing factors in cervical cancer patients undergoing radiotherapy. METHODS: Patients were prospectively included by convenient sampling at The Fifth Affiliated Hospital of Sun Yat-Sen University, China between March 2018 and March 2019. The survey was completed using a self-designed general information questionnaire, the SPB scale for cancer patients, and the self-care self-efficacy scale, Strategies Used by People to Pro mote Health, which were delivered to patients with cervical cancer undergoing radiotherapy. Measurement data are expressed as the mean ± SD. Enumeration data are expressed as frequencies or percentages. Caregivers were the spouse, offspring, and other in 46.4, 40.9, and 12.7%, respectively, and the majority were male (59.1%). As for pathological type, 90 and 20 cases had squamous and adenocarcinoma/adenosquamous carcinomas, respectively. Stage IV disease was found in 12 (10.9%) patients. RESULTS: A total of 115 questionnaires were released, and five patients were excluded for too long evaluation time (n = 2) and the inability to confirm the questionnaire contents (n = 3). Finally, a total of 110 questionnaires were collected. They were aged 31-79 years, with the 40-59 age group being most represented (65.4% of all cases). Most patients were married (91.8%) and an overwhelming number had no religion (92.7%). Total SPB score was 43.13 ± 16.65. SPB was associated with the place of residence, monthly family income, payment method, transfer status, the presence of radiotherapy complications, and the presence of pain (P < 0.05). The SPB and self-care self-efficacy were negatively correlated (P < 0.01). In multivariate analysis, self-care self-efficacy, place of residence, monthly family income, payment method, degree of radiation dermatitis, and radiation proctitis were influencing factors of SPB (P < 0.05). CONCLUSION: Patients with cervical cancer undergoing radiotherapy often have SPB. Self-care self-efficacy scale, place of residence, monthly family income, payment method, and radiation dermatitis and proctitis are factors independently influencing SPB. PMID:34141781 | PMC:PMC8173433 | DOI:10.12998/wjcc.v9.i17.4188 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Prenatal diagnosis of cor triatriatum sinister associated with early pericardial effusion: A case report

paythelady.612 shared this article with you from Inoreader Prenatal diagnosis of cor triatriatum sinister associated with early pericardial effusion: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Jun 16;9(17):4395-4399. doi: 10.12998/wjcc.v9.i17.4395. ABSTRACT BACKGROUND: Cor triatriatum sinistrum or cor triatriatum sinister is a rare congenital heart disease that accounts for approximately 0.1% of all cardiac abnormalities. It is defined as the presence of an anomalous septum that divides the left atrium into two cavities, and in most cases, it can be asymptomatic or less frequently very severe. CASE SUMMARY: A 37-year-old pregnant woman visited our hospital. In the first trimester scan, we detected signs of fluid in the pericardium (pericardial effusion) that reached the atriums. In the third trimester, an anomalous septum in the left atrium suspicious of cor triatriatum sinister was detected. Expectant management was decided, the pregnancy evolved normally and resulted in uncomplicated delivery of a healthy child. The findings in the prenatal scan were confirmed by echocardiography and the diag nosis of cor triatriatum sinister was confirmed. The newborn was asymptomatic at all times. CONCLUSION: We show expectant management of cor triatriatum sinister and suggest an association between this entity and early pericardial effusion. PMID:34141806 | PMC:PMC8173403 | DOI:10.12998/wjcc.v9.i17.4395 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Bone marrow inhibition induced by azathioprine in a patient without mutation in the thiopurine S-methyltransferase pathogenic site: A case report

paythelady.612 shared this article with you from Inoreader Bone marrow inhibition induced by azathioprine in a patient without mutation in the thiopurine S-methyltransferase pathogenic site: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Jun 16;9(17):4230-4237. doi: 10.12998/wjcc.v9.i17.4230. ABSTRACT BACKGROUND: Azathioprine (AZA) and its close analog 6-mercaptopurine are thiopurines widely used in the treatment of patients with cancer, organ transplantation, and autoimmune or inflammatory diseases, including systemic lupus erythematosus. Bone marrow inhibition is a common side effect of AZA, and severe bone marrow inhibition is related to decreased thiopurine S-methyltransferase (TPMT) activity. CASE SUMMARY: We herein report a patient with proliferative lupus nephritis who was using AZA for maintenance therapy, had no common TPMT pathogenic site mutations, and exhibited severe bone marrow inhibition on the 15th day after oral administration. CONCLUSION: This report alerts physicians to the fact that even though the TPMT gene has no common pathogenic site mutation, severe myelosuppression may also o ccur. PMID:34141785 | PMC:PMC8173432 | DOI:10.12998/wjcc.v9.i17.4230 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Pulmonary alveolar proteinosis complicated with tuberculosis: A case report

paythelady.612 shared this article with you from Inoreader Pulmonary alveolar proteinosis complicated with tuberculosis: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Jun 16;9(17):4400-4407. doi: 10.12998/wjcc.v9.i17.4400. ABSTRACT BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of phospholipoproteinaceous material in the alveoli. Cases of PAP complicated with tuberculosis are much more complex and have rarely been well recorded. CASE SUMMARY: We describe a 21-year-old Han Chinese patient with suspicious lung infection associated with mild restrictive ventilatory dysfunction and diffusion reduction. High resolution computed tomography revealed a "crazy-paving" appearance and multiple pulmonary miliary nodules around the bronchi. Bronchoalveolar lavage demonstrated a small amount of periodic acid-Schiff positive proteinaceous materials. A serological test for the presence of a Mycobacterium tuberculosis antibody and an interferon-gamma release assay were both positive. The patient received a standard cours e of first-line anti-tuberculosis treatment after diagnostic bronchoalveolar lavage. To date, clinical remission has been achieved and maintained for five years. CONCLUSION: In summary, the diagnosis of PAP complicated with tuberculosis was supported by a combination of clinical manifestations, imaging, pulmonary function, laboratory examinations, bronchoalveolar lavage, etc. This case highlighted that diagnostic bronchoalveolar lavage in combination with anti-tuberculosis treatment is a safe and effective option for mild PAP patients with tuberculosis. PMID:34141807 | PMC:PMC8173423 | DOI:10.12998/wjcc.v9.i17.4400 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Schwannoma mimicking pancreatic carcinoma: A case report

paythelady.612 shared this article with you from Inoreader Schwannoma mimicking pancreatic carcinoma: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Jun 16;9(17):4453-4459. doi: 10.12998/wjcc.v9.i17.4453. ABSTRACT BACKGROUND: Schwannoma of the pancreas is extremely rare. We report a case of pancreatic schwannoma that was difficult to distinguish from pancreatic carcinoma before surgery. CASE SUMMARY: A 66-year-old male underwent a right-lobe hepatectomy for hepatocellular carcinoma. Post-surgical computed tomography showed a 10 mm long solid mass with ischemia, with no expansion into the main pancreatic duct. Upon magnetic resonance cholangiopancreatography, the tumor had high signal intensity in diffusion weighted images, consistent with pancreatic carcinoma. Endoscopic ultrasound (EUS) was performed to obtain more information about the tumor, and showed a 14 mm solid and hypoechoic mass in the pancreatic body. Contrast enhanced EUS revealed that the tumor showed a hyperechoic mass in the early phase, and the contrasting effect continuation was very short; findings also consistent with pancreatic carcinoma. Thus, we preoperatively diagnosed his condition as a pancreatic carcinoma and performed distal pancreatectomy with splenectomy. Microscopic examination showed that the tumor was in fact a benign schwannoma. Histology showed a proliferation of spindle-shaped cell in a vague fascicular and haphazard pattern, with palisading arrangement. CONCLUSION: Schwannoma of the pancreas is very rare, however, clinicians should consider schwannoma as the differential diagnosis for pancreatic tumors. PMID:34141813 | PMC:PMC8173407 | DOI:10.12998/wjcc.v9.i17.4453 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.