Background::Findings on the association of genetic factors and colorectal cancer (CRC) survival are limited and inconsistent, and revealing the mechanism underlying their prognostic roles is of great importance. This study aimed to explore the relationship between functional genetic variations and the prognosis of CRC and further reveal the possible mechanism.Methods::We first systematically performed expression quantitative trait locus (eQTL) analysis using The Cancer Genome Atlas (TCGA) dataset. Then, the Kaplan-Meier analysis was used to filter out the survival-related eQTL target genes of CRC patients in two public datasets (TCGA and GSE39582 dataset from the Gene Expression Omnibus database). The seven most potentially functional eQTL single nucleotide polymorphisms (SNPs) associated with six survival-related eQTL target genes were genotyped in 907 Chinese CRC patients with clinical prognosis data. The regulatory mechanism of the survival-related SNP was further confirmed by functional experiments.Results::The rs71630754 regulating the expression of endoplasmic reticulum aminopeptidase 1 ( ERAP1) was significantly associated with the prognosis of CRC (additive model, hazard ratio [HR]: 1.43, 95% confidence interval [CI]: 1.08-1.88, P = 0.012). The results of dual-luciferase reporter assay and electrophoretic mobility shift assay showed that the A allele of the rs71630754 could increase the binding of transcription factor 3 (TCF3) and subsequently reduce the expression of ERAP1. The results of bioinformatic analysis showed that lower expression of ERAP1 could affect the tumor immune microenvironment and was significantly associated with severe survival outcomes. Conclusion::The rs71630754 could influence the prognosis of CRC patients by regulating the expression of the immune-related gene ERAP1. Trial Registration::No. NCT00454519 (https://clinicaltrials.gov/)

Objective:To investigate the clinical characteristics and prognosis of infants with retinoblastoma (RB).Methods:The clinical data of 217 (335 affected eyes) infantile RB patients admitted to the Department of Pediatrics, Beijing Tongren Hospital, Capital Medical University from July 1, 2009 to June 30, 2019 were collected for analyzing the clinical efficacy and prognosis after comprehensive treatment.Results:(1) Clinical characteristics: 217 infantile RB patients included 129 males and 88 females, with the ratio of male to female being 1.47∶1.00; the median age was 6.06 months; there was monocular disease in 99 cases, and binocular disease in 118 cases, with the incidence ratio of binocular to monocular disease being 1.19∶1.00; all the 5 cases with family history of RB had binocular disease; the first symptoms included white pupils and yellow-white reflections in pupils (183 cases, 84.3%), followed by strabismus (18 cases, 8.3%). There were 335 affected eyes, of which 304 counts were in the intraocular stage (90.7%), most commonly in stage D (146 counts, 43.6%); 26 counts (7.7%) in the extraocular stage, mainly invading the optic nerve and/or optic nerve stump; 5 counts (1.5%) in the metastasis stage.(2) Survival analysis: the medical follow-up continued to March 31, 2020, with a median follow-up time of 67 months.There were 2 cases with a loss of follow-up, 21 relapsed cases, and 19 death cases, with the overall survival rate being 91.2%.According to Kaplan-Meier survival analysis, the expected 5-year survival rate was 91.1%; the survival rate was 96.2% in the intraocular stage and 73.1% in the extraocular stage.All 5 cases died during the distant metastasis stage, and the difference was statistically significant ( χ2=7.492, P<0.001); there was also a statistical difference in the survival rate between the monocular disease (95.9%) and binocular disease (87.3%) ( χ2=4.335, P=0.023). (3) Eyeball removal and eye protection: the eye protection rate of 217 children was 68.9%, 100.0% in stage A, B and C, 80.1% in stage D and 35.1% in stage E, which showed significant differences ( χ2=6.573, P=0.004). There were 35 children who underwent eye extraction before chemotherapy and 67 cases after chemotherapy, among which the difference was statistically significant ( χ2=6.076, P=0.012) in eye removal rates before and after chemotherapy in stage D and E(6 and 11 cases before chemotherapy, 22 and 36 cases after chemotherapy). (4) Adverse reactions: according to the World Health Organization′s classification of adverse reactions to chemotherapy, there were 26 cases in grade 0 (12.0%), 98 cases in grade Ⅰ (45.1%), 59 cases in grade Ⅱ (27.2%), 23 cases in grade Ⅲ (10.6%), and 11 cases in grade Ⅳ (5.1%), mainly manifested as bone marrow suppression after chemotherapy (132 cases). No second tumors appeared, and only 4 cases had transient hearing abnormalities, which returned to the normal state in the subsequent review. Conclusions:Infantile RB has its own characteristics.Such factors as different eye types and different clinical stages can affect the prognosis of children.The survival rate of such children can be improved significantly and the rate of eyeball removal can be reduced after treatment.

Objective:To summarize and analyze the clinical features, treatment effects and related factors affecting the prognosis of hepatoblastoma (HB) in children under six years old.Methods:Clinical data of 382 children with HB under six years old who were pathologically diagnosed at the Pediatric Single Center of Beijing Tongren Hospital from May 2005 to May 2019 were analyzed retrospectively. The factors affecting the treatment effect and survival rate of HB were analyzed. The independent risk factors affecting the prognosis of HB were studied by Cox regression model. The χ2 test was used to compare the enumeration data between groups. Kaplan-Meier method was used for survival analysis. Log-rank test was used to compare the survival rates among subgroups. Results:Children enrolled were with median age of 1.75 (0.08 ~ 5.92) years old and a male to female ratio of 1.5. Alpha-fetoprotein (AFP) median level was 197 406.5 μg/L at initial diagnosis, and the pathological tissue type was mainly epithelial (55.8%). Preoperative PRETEXT stage was mostly stage III (58.6%). 86 cases (22.5%) had portal vein or hepatic vein, and vena cava invasion. 73 cases (19.1%) had extrahepatic adjacent tissues and organs invasion. Twenty-four cases (6.3%) had tumor rupture and bleeding. 171 cases (44.8%) had distant metastases, and 96 cases (25.1%) had multiple intrahepatic lesions. Patients were followed-up to May 2020 (median follow-up time was 56 months). After comprehensive treatment, 218 cases were completely relieved, and 69 cases were partially relieved, and the treatment efficiency was 75.1%. Kaplan-Meier survival analysis showed that the 1, 3, and 5-years overall survival rates (OS) were 93.7%, 84.0%, and 73.9%, respectively, and the event-free survival rates were 90.5%, 79.2%, and 67.5%, respectively. Comparison of the clinical factors of 5-year OS showed that AFP < 100 μg/L ( HR = 3.341, P = 0.005), PRETEXT stage IV ( HR = 4.026, P = 0.001), vascular invasion ( HR = 2.178, P = 0.019) and distant metastasis ( HR = 2.634, P = 0.010) were independent risk factors in each subgroup affecting the prognosis of children with HB, and the difference was statistically significant. Conclusion:HB prognosis is related to AFP level, PRETEXT stage, presence or absence of vascular invasion and distant metastasis. Therefore, its survival and prognosis will be different in the presence of different risk factors.

Adolescent and young adult (AYA) non-Hodgkin lymphoma (NHL) is different from children and older adults in patients' clinical characteristics, pathological subtypes and genetic characteristics. The standard treatment regimen is still unclear currently. This article briefly describes the epidemiology, molecular biological features and prognostic factors of AYA-NHL, and highlights the curative effects of different treatment options in various subtypes of AYA-NHL, aiming to provide a basis for making clinical standard treatment plans.

Objective:To summarize the prognostic characteristics of hepatoblastoma in children undergoing pulmonary metastasectomy.Methods:The clinical data of 48 hepatoblastoma patients with pulmonary metastases who underwent pulmonary metastases resection in our hospital from January 1 2009 to December 31, 2017 were collected, and prognosis of these patients was analyzed.Results:Forty eight cases were diagnosed as hepatoblastoma with pulmonary metastasis, including 30 cases with pulmonary metastasis alone and 18 cases accompany with other high risk factors affecting prognosis. All the 48 patients underwent pulmonary metastasectomy, in which 43 patients were given pulmonary metastases resection completely and 5 patients were given partial resection of metastases. Twenty-five cases recurred after the first pulmonary metastasis resection(25/48, 52.1%), and 2 cases progressed. With the median follow-up time of 45.5 months, survival time of 48 patients with pulmonary metastasectomy was(83.59±7.01)months, and the 3-year overall survival rate was 58%. Of the groups those were patients with pulmonary metastasis alone and patients with other high risk factors affecting prognosis, the survival time and the 3-year overall survival rate showed a significant statistical differences[(95.89±8.19)months vs.(58.95±9.40)months; 79.4% vs.50%; χ2=4.849, P= 0.028)]. The survival time and 3-year survival rate of the two groups between with recurrence or progression and the group without recurrence or progression after pulmonary metastases resection were showed a significant difference[(56.84±7.22)months vs.(112.48±7.08)months; 55.6% vs.90.5%; χ2=11.03, P= 0.001)]. Results of COX regression analysis showed that the main risk factor affecting prognosis was pulmonary metastasis accompany with other high-risk factors for hepatoblastoma patients. The death risk of patients with pulmonary metastasis accompany with other high-risk factors was 3.424 times than that of patients without other high-risk factors( RR=3.424, 95% CI: 1.264~9.275). Conclusion:The overall prognosis of patients with pulmonary metastases is not good, and the proportion of postoperative recurrence is very high. Pulmonary metastasis accompanied with other high risk factors is the main risk factor affecting the prognosis of patients with pulmonary metastasectomy.

Objective:To study the relationship between high-risk factors with the diagnosis, treatment and prognosis of children with high-risk head and neck rhabdomyosarcoma (RMS).Methods:Children with high-risk RMS primarily found in head and neck were selected as research objects according to the criteria of RMS risk degree formulated by Children Oncology Group (COG) and Children′s Rhabdomyosarcoma Cooperative Group, Children′s Hematological Oncology Group, China Anti-Cancer Association (CCCG-RMS), and combined treatment including puncture pathology/surgery, chemotherapy and radiotherapy were performed.The relationship with primary site, age, pathology type and metastasis and prognosis were analyzed.Results:Twenty-nine patients were collected as research object, 17 cases (58.6%) of male, and 12 cases (41.4%) of female.The primary site: orbit was 7 patients (24.1%), and para-meningeal was 22 patients (75.9%). Clinical stage: 2 cases were stage Ⅲ (6.9%), and 27 cases were stage Ⅳ (93.1%). Followed up to December 31, 2018, 14 patients were dead, 15 patients were survival, and 10 patients were event free survival.The overall survival rate was 48.3%(15/29 cases), and the event free survival rate was 34.5%(10/29 cases). According to Kaplan- Merier survival curve analysis, the average overall survival time was (76.0±12.0) months, 95% confidence interval (95% CI): (53.5-93.2)months.The event free survival time was (62.5±10.6) months, 95% CI: (47.0-83.9)months. Conclusions:The prognosis of high-risk head and neck RMS is poor.The center system metastasis is cause of death.Thus, the main task is how to close follow-up and prevention of central nervous system invasion for improving prognosis.

Objective:To investigate the clinical features, diagnosis, treatment and prognosis of advanced clear cell sarcoma of kidney(CCSK) in children.Methods:The clinical data of 10 children with advanced CCSK hospitalized in Department of Pediatrics of Beijing Tongren Hospital, Capital Medical University from January 2014 to December 2017 were collected, and their clinical features, diagnosis, treatment and prognosis were analyzed retrospectively.Results:(1) Clinical features of CCSK: ten cases of CCSK included 6 boys and 4 girls, with the median onset age of 32 months; 7 cases were left CCSK and 3 cases were right CCSK.There were 9 cases of stage Ⅲ and 1 case of stage Ⅳ at the time of initial diagnosis, when 4 cases were misdiagnosed as other renal tumors at the time of initial diagnosis(40%, 4/10 cases). Five patients with stage Ⅲ CCSK had recurrence and metastasis during treatment and follow-up, and the main distant metastasis sites were lung, bone, liver and brain.(2) Treatment and prognosis of CCSK: seven cases received surgery combined with radiotherapy and chemotherapy, and 3 cases whose parents gave up treatment adopted non-standardized treatment.The median follow-up time was 33.5 months.Seven patients survived and 3 cases died.The 3-year overall survival rate of all 10 patients was 65.6%.The 3-year overall survival rate of stage Ⅲ was 74.1%, and that of stage Ⅳ was 0.The prognosis of stage Ⅲ was significantly better than that of stage Ⅳ( χ2=9, P=0.003). Among the 5 recurrent cases, only 1 case achieved completely remission, 2 cases achieved partially remission, 1 case suffered from disease progression and 1 case died.The 3 cases without recurrence were given standardized treatment of surgery, che-motherapy and radiotherapy, and all were completely remitted. Conclusions:CCSK is easy to be misdiagnosed, and the risk of recurrence and distant metastasis is high in stage Ⅲ patients during treatment and follow-up.Stage Ⅲ patients who actively receive standard treatment including surgery, chemotherapy and radiotherapy have good prognosis, while the mortality of patients with relapse and distant metastasis is high.

Objective:To investigate the pathogen types and drug resistance of catheter-related bloodstream infection (CRBSI) in children with solid tumor after chemotherapy.Methods:The clinical characteristics, pathogenic bacteria composition and drug sensitivity test results of children hospitalized with chemotherapy and indwelling periphe-ral venous catheter (PICC) and central venous catheter (CVC) in the non-Intensive Care Unit (ICU) of the Pediatric Ward of Beijing Tongren Hospital, Capital Medical University from January 2014 to December 2015 were retrospectively summarized.Results:A total of 3 361 cases received chemotherapy, 3 300 cases received PICC and CVC, and the blood cultures of 64 cases were sent for test. Twenty-four cases had CRBSI, 4 of who were of fungal infection. The infection rate of CRBSI was 0.7% and the infection rate of fungi was 0.12%. A total of 14 pathogenic bacteria were isolated, including 3 strains of Gram-negative bacteria (21.4%), 9 strains of Gram-positive bacteria (64.3%), and 2 strains of fungi (14.3%). The main pathogenic bacteria detected positive in 24 cases (12 cases were drug-resistant) included the methicillin-resistant coagulase-negative staphylococci (3 cases), carbapenem-resistant Klebsiella pneumoniae (7 cases) and extended spectrum beta-lactamases(ESBLs)producing Escherichia coli (2 cases), and their detection rates were 12.5%, 29.2% and 8.3%, respectively.The sensitivity rate of coagulase-negative staphylococci to Vancomycin, Meropenem and Linezolid was 100%.Candida glabrata and candida 100% sensitive to Voriconazole, Amphotericin B and Flucytosine but not sensitive to Fluconazole and Itraconazole. Conclusions:Monitoring the occurrence and etiological changes of CRBSI in children with solid tumors is helpful to further strengthen effective prevention and control measures and provide early empirical antimicrobial therapy.

Objective:To improve the clinicians′ understanding of central nervous system (CNS) metastasis in children with solid tumors.Methods:The clinical data of 33 cases of CNS metastasis among 611 children with malignant solid tumors in the chest and abdomen from September 2005 to December 2016 in Beijing Tongren Hospital, Capital Medical University were retrospectively analyzed. The clinical characteristics, treatment and prognosis of metastasis were statistically analyzed according to different pathological types of malignant solid tumors in children with CNS metastasis.Results:Among the 611 children with malignant solid tumors in the chest and abdomen, 15 patients were neuroblastoma with CNS metastasis (5.9%, 15/264), 13 patients were hepatoblastoma with CNS metastasis (4.8%, 13/274), two cases were Wilms tumor with CNS metastasis (3.2%, 2/63), and three cases were clear cell sarcoma of the kidney with CNS metastasis (3/10). The onset age of the malignant solid tumors was 3-189 months, and the median age of onset was 26.5 months. The time from the diagnosis of primary malignant solid tumor to diagnosis of CNS metastasis was 0-100 months, and the median time of metastasis was 18 months. The neuroimaging features of CNS metastasis were as follows:30 cases with brain metastasis, three cases with meningeal metastasis, and five cases with spinal cord involvement. Cerebrospinal fluid cytology was positive in two cases (2/3). Of the 33 patients with CNS metastasis, five underwent intracranial tumor resection combined with radiotherapy and chemotherapy, two underwent surgery alone, three underwent radiotherapy alone, and 23 underwent chemotherapy alone. After a median follow-up of 36 months, the survival time of 33 malignant solid tumors with CNS metastasis was (16.96±3.19) months, and the overall survival rate of three years was only 14.7%. The survival time of the patients with intracranial tumor surgery combined with radiotherapy and chemotherapy, surgery alone, radiotherapy alone, and chemotherapy alone was (40.50±4.32), (3.00±0), (35.50±5.50) and (10.35±2.84) months, respectively; and the three-year overall survival rates were 50.0%, 0, 50.0% and 4.3%, respectively (χ 2=15.19, P=0.002). The prognosis of the patients with intracranial tumor resection combined with radiotherapy and chemotherapy was the best. Conclusions:The highest incidence of CNS metastasis in children with malignant solid tumors in the chest and abdomen was found in the clear cell sarcoma of the kidney. The prognosis of CNS metastasis was found to be poor. But the comprehensive therapy of intracranial tumor resection combined with radiotherapy and chemotherapy can prolong survival and improve prognosis.

Objective To kxplork thk clinical charactkristics,trkatmknt and prognosis of rhabdomeosarcoma (AMS)with intracranial kxtknsion in childrkn. Methods Thk clinical data of 12 casks of childrkn(5 malks and 7 fk-malks)with AMS and intracranial involvkmknt admittkd into thk Dkpartmknt of Pkdiatrics,Bkijing Tongrkn Hospital Lffiliatkd to Capital Mkdical Rnivkrsite from Dkckmbkr 2012 to Dkckmbkr 2017 wkrk analezkd rktrospkctivkle. Thkrk wkrk 5 malks and 7 fkmalks in 12 casks. Thk onskt agk rangkd from 1. 2 to 10. 2 ekars old,with a mkdian agk of 3. 4 ekars old. Thk clinical fkaturks,trkatmknt mkthods and prognosis wkrk summarizkd. ResuIts Thk primare sitks of 9 casks wkrk in thk hkad and nkcc(75﹪),2 casks wkrk in thk chkst and bacc(17﹪),and 1 cask was in thk pkrinkum (8﹪). Nink patiknts had obvious ckntral nkrvous sestkm involvkmknt semptoms,and cranial imaging findings wkrk studikd in all of thk 12 patiknts. Thk clinical pathological stagk and risc classification wkrk:6 casks of stagkⅣ(1 cask of ckntral aggrkssion);6 casks of stagk Ⅲ(4 casks of ckntral aggrkssion);10 casks wkrk in thk high-risc group(4 casks of stagk Ⅲ with ckntral violations),and 2 casks(stagkⅢ)in thk intkrmkdiatk risc group. Lll 12 casks rkckivkd sestkmic chkmothkrape,8 casks rkckivkd local or total cranial╱spink radiothkrape,9 casks undkrwknt primare rkskction, and 4 casks undkrwknt craniotome to rkmovk intracranial lksions. Rp to Januare 2018,4 casks of 12 childrkn survivkd (including 2 diskask-frkk patiknts)and 8 childrkn dikd. Thk ovkrall survival ratk was 33﹪(4╱12 casks)and thk diskask-frkk survival ratk was 17﹪(2╱12 casks). ConcIusions Thk prognosis of AMS with intracranial infiltration is vkre poor,and thk trkatmknt kffkct is not good. Complktk rkskction of karle lksions is thk cke to curk AMS. Aadiothkra-pe,individualizkd chkmothkrape and surgical rkmoval of intracranial lksions mae havk thk valuk in controlling diskask and prolonging survival timk.