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Fanconi anemia (FA) is an inheritable disorder that presents with bone marrow failure, developmental anomalies, and an increased susceptibility to cancer. The etiology of this condition stems from a genetic mutation that disrupts the proper repair of interstrand DNA cross-links (ICLs). The resultant dysregulation of the DNA damage response mechanism can induce genomic instability, thereby elevating the mutation rates and the likelihood of developing cancer. The FA pathway assumes a pivotal role in safeguarding genome stability through its involvement in the repair of DNA cross-links and the maintenance of overall genomic integrity. A mutation in the germ line of any of the genes responsible for encoding the FA protein results in the development of FA. The prevalence of aberrant FA gene expression in somatic cancer, coupled with the identification of a connection between FA pathway activation and resistance to chemotherapy, has solidified the correlation between the FA pathway and cancer. Consequently, targeted therapies that exploit FA pathway gene abnormalities are being progressively developed and implemented. This review critically examines the involvement of the FA protein in the repair of ICLs, the regulation of the FA signaling network, and its implications in cancer pathogenesis and prognosis. Additionally, it explores the potential utility of small-molecule inhibitors that target the FA pathway.
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Objective: To evaluate the value of CEUS in evaluating of malignant risk of breast imaging report and data system (BI-RADS) 4 levels of breast lesions with different sizes. Methods: The CEUS characteristics of BI-RADS 4 levels of the benign and malignant breast lesions with diameter ≤2 cm (n=120) and diameter >2 cm (n=63) were analyzed retrospectively. Binary Logistic regression analysis was used to screen CEUS characteristic parameters that could predict malignant lesions. Results: There were differences of enhanced shape, enhanced intensity, homogeneity, perfusion pattern, nourishing vessels, enhanced area expansion, initial rates and fading rates between the benign and malignant lesions with diameter ≤2 cm (all P2 cm (all P<0.05); regression analysis showed that nourishing vessels, centripetal enhancement pattern and enhanced area expansion were independently correlated with malignant breast lesions of BI-RADS 4 levels (all P<0.05). Conclusion: CEUS can be used to evaluate the malignant risk of BI-RADS 4 levels of breast lesions with different sizes.
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Objective To campare the diagnostic value of contrast-enhanced ultrasound(CEUS) and International Ovarian Tumor Analysis (IOTA) simple rules in the differential diagnosis of adnexal tumors . Methods For the 101 suspicious malignant adnexal tumors discovered by conventional ultrasound ,IOTA simple rules and CEUS were performed before operation . Tumors were divided into benign ,uncertain and malignant according to IOTA simple rules . Tumors were scored by CEUS according to the membrane integrity ,coating thickness uniformity ,separation enhancement ,enhance strength ( no enhancement ,low enhancement ,equal or high enhancement) ,and enhanced performance( uniform and non-uniform) . The ROC curve was drawn with the pathological results as the gold standard ,and the best boundary value was obtained . Finally ,the diagnostic efficiency of the diagnostic methods were analyzed . Results ①According to the ROC curve analysis ,the area under the curve of IOTA simple rules was 0 .757( P ＝0 .000) . When the uncertainty type was classified as benign ,the random index was 0 .41 ,the sensitivity was 61 .54% ,and the specificity was 79 .59% . When the uncertainty type was classified as malignant ,the random index was 0 .31 ,the sensitivity was 96 .15% ,and the specificity was 34 .69% . When the uncertain types were excluded the Youden index was 0 .77 ,the sensitivity was 76 .19% ,and the specificity was 89 .47% . ②The differences in the membrane integrity , coating thickness uniformity , separation enhancement , enhance strength , enhanced performance between benign and malignant tumors were statistically significant( P ＜ 0 .01) . ③According to the ROC curve analysis ,the area under the curve of CEUS was 0 .914( P ＝ 0 .000) ,cut-off value was 3 score . The Youden index ,sensitivity and specificity of evaluating benign and malignant adnexal tumors were 0 .80 ,78 .85% and 91 .84% respectively . ④ The tumors evaluated as benign by IOTA simple rules was classified as benign . The tumors evaluated as malignant by IOTA simple rules were classified as malignant . The tumors evaluated as uncertain by IOTA simple rules and scored less than or equal to 3 points according to CEUS were classified as benign . The tumors evaluated as uncertain by IOTA simple rules and scored more than 3 points according to CEUS were classified as malignant . According to the ROC curve analysis ,the area under the curve of CEUS combined with IOTA simple rules was 0 .831 ( P ＝0 .000) . The Youden index ,sensitivity and specificity in evaluating benign and malignant adnexal tumors were respectively 0 .66 ,86 .54% and 79 .59% respectively . Conclusions CEUS has a higher diagnostic efficiency than IOTA Simple Rules and the two combined in the diagnosis of adnexal tumors .
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Objective To compare the safety and efficacy of endoscopic submucosal tunnel dissection (ESTD) and endoscopic submucosal dissection ( ESD) for treatment of esophageal superficial neoplasms. Methods A retrospective study was performed on data of patients with esophageal superficial neoplasms who were treated by conventional ESD or ESTD at Xijing Hospital of Digestive Diseases between January 2014 and December 2016. The procedure time, pathology, rate of en bloc resection and curative resection, and adverse events were compared between the two groups. Results A total of 113 consecutive patients were collected, including 49 undergoing ESTD and 64 undergoing ESD. ESTD had a shorter procedure time than ESD method [38. 0 min(21. 4-71. 0 min) VS 46. 5 min(32. 5-117. 5 min), P＝0. 008],and the dissection speed of ESTD was faster than that of ESD[0. 42 cm2/min(0. 22-0. 59 cm2/min) VS 0. 34 cm2/min(0. 20-0. 42 cm2/min), P＝0. 000]. There were no statistical differences in the en bloc resection rate ( 100. 0% VS 100. 0%, P＝1. 000) or the curative resection rate (98. 0% VS 93. 8%, P＝0. 386).There were no statistical differences on adverse event rates including post-procedure bleeding, perforation, fever, and thoracalgia.ESTD group showed a lower rate of muscular injury (20. 4% VS 39. 1%, P＝0. 041) and intra-procedure bleeding (18. 4% VS 37. 5%, P＝0. 036). A multivariate regression analysis for procedure time showed that ESTD method ( OR＝ 2. 801, 95%CI: 1. 116-7. 031, P＝0. 028) and lesion area ＜9 cm2(OR＝5. 049, 95%CI: 2. 088-12. 208, P＝0. 000) were associated with a shorter procedure time.Conclusion ESTD is safe and effective for treatment of esophageal superficial neoplasms. It can shorten operative time, improve dissection speed, and reduce intra-procedure muscular layer injury and bleeding.
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Objective To evaluate the endoscopic features of colorectal sessile serrated adenoma/polyp(SSA/P). Methods The data of 109 cases of SSA/P and 218 cases of polyps randomly selected in Xijing Hospital from January 2014 to December 2016 were collected. The endoscopic features of SSA/P and polyps were compared, and the risk factors of occurrence and cancerization of SSA/P were analyzed. Results The mean age of patients in the SSA/P group was older than that of polyps group(P=0.011).The distribution of lesions was no significant difference between the two groups(P=0.092). The gross type of SSA/P was mainly type Ⅰ and Ⅱ, while polyps were more in type Ⅰ(P=0.036). According to the pit pattern of Kudo,type Ⅱ was more in SSA/P,but types Ⅰ and Ⅱ were more in polyps(P=0.004). For capillary pattern comparison,type Ⅱ was more in SSA/P,but type Ⅰ was more in polyps(P≤0.000 1). For surface morphological features comparison,the SSA/P group was more likely to be observed the mucous cap(P=0.002)and blood vessel thickening(P=0. 004). On pathologic diagnosis, the SSA/P group was more susceptible to atypia and carcinogenesis(P = 0.001). Higher microvascular morphological classification,being mucous cap,and blood vessel thickening were risk factors of atypia and carcinogenesis of SSA/P. Conclusion There were significant differences between SSA/P and polyps on lesion location,pit pattern,capillary pattern,surface structure characteristics,and risk factors of atypia and carcinogenesis.
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Objective To explore the diagnostic value of endoscopic ultrasonography(EUS)for the minimal submucosal invasion of early gastrointestinal tumor. Methods A total of 242 patients with early gastrointestinal tumor,who underwent endoscopic submucosal dissection,were retrospectively analyzed. The accuracy of EUS diagnosis was calculated based on postoperative histopathological findings as the golden standard,and influencing factors were also analyzed. Results Overall diagnostic accuracy of EUS for sub-mucosal invasion of early gastrointestinal tumors was 72. 3%(175/ 242),with an overstaging rate of 21. 5%(52/ 242)and an understaging rate of 6. 2%(15/ 242).Tumor size(P = 0. 018)and location(P = 0. 005) had significant effects on the diagnostic accuracy of the minimal submucosal invasion of early gastrointestinal tumor by EUS. The overstaging rate in the lesion length of diameter>3 cm was higher than those of 3 cm or less[27. 0%(33/ 122)VS 15. 8%(19/ 120),P = 0. 807],the overstaging rates of early colonrectal and gastric cancer were also significantly higher than the understaging rate[ Colonrectum:12. 2%(9/ 74)VS 2. 7%(2/ 74),P= 0. 028;Stomach:26. 9%(28/ 104)VS 2. 9%(3/ 104),P = 0. 000]. Conclusion Endoscopic ultrasonography is of diagnostic value for the invasion depth of early cancer in gastrointestinal tract. However,precaution should be taken in large lesions and the tendency of overstaging in gastrointestinal tract.
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Objective To compare the differences between endoscopic resection and laparoscopy?assisted surgery or transanal endoscopic resection for rectal neuroendocrinal tumor. Methods Clinical data of patients who underwent endoscopic or surgical resection of neuroendocrinal tumor of less than 2 cm which were confirmed by pathology from December 2010 to November 2013 were retrospectively analyzed. Results Twenty cases of endoscopic treatment, including 17 cases of ESD, 3 cases of EMR,were included in endoscopy group;while 18 cases treated with surgery were included in surgery group, among which 12 ca?ses underwent transanal endoscopic microsurgery and 6 cases laparoscopic resection. The mean lesion sizes were 7 mm(4?18 mm)and 8 mm(3?15 mm),respectively. Pathology showed there were 16 cases of grade G1 neurocrinal tumor and 2 G2 cases in surgical group. There was no lymphvascular invasion with clear margin in the endoscopy group,but three cases of lymphvascular invasion in surgical group. No treatment?related se?vere adverse event occurred in either group. The time for oral food intake was 2?0 d(1?4 d) in endoscopy group, while that in surgery group was 2?4 d(1?7 d)(P=0?295). The hospital stay was(6?80±2?12) d in endoscopy group and(8?59±2?85)d in surgery group, respectively(P=0?034). And the total hospitalization cost was 10 488(4 128?15 296) yuan and 15 590(3 024?40 503) yuan(P=0?031) in the two groups, re?spectively. The follow?up was 25 months(2?48 months)and no recurrence was found. Conclusion Endo?scopic resection, especially ESD, is a new approach to treat colorectal neuroendocrinal tumor,advantageous over surgery in shorter hospitalization time, minimal invasiveness, faster postoperative recovery, less compli? cation, and reduced hospitalization cost.