简介：AbstractMucinous cystic neoplasm (MCN) of the pancreas is an exocrine cystic tumor with a potential of harboring malignancy. The latest World Health Organization classification of tumors of digestive system designates malignant MCN as MCN with associated invasive carcinoma (MCN-AIC). Since its separation from other pancreatic cystic tumors in 1978, much progress has been made in our understanding of MCN in epidemiology, clinical and pathological features, biological behavior, as well as prognostic characteristics. This review aims to summarize the current knowledge of MCN and MCN-AIC.

简介：Themyelodysplastic/myeloproliferativeneoplasms(MDS/MPNs)areauniquegroupofhematologicmalignanciescharacterizedbyconcomitantmyelodysplasticandmyeloproliferativefeatures.Accordingtothe2008WHOclassification,thecategoryincludesatypicalchronicmyeloidleukemia(aCML),chronicmyelomonocyticleukemia(CMML),juvenilemyelomonocyticleukemia(JMML),MDS/MPN-unclassifiable(MDS/MPN-U),andtheprovisionalentityrefractoryanemiawithringsideroblastsandthrombocytosis(RARS-T).Althoughdiagnosiscurrentlyremainsbasedonclinicopathologicfeatures,theincorporationofnextgenerationplatformshasallowedfortherecentmolecularcharacterizationofthesediseaseswhichhasrevealeduniqueandcomplexmutationalprofilesthatsupporttheirdistinctbiologyandisanticipatedtosoonplayanintegralroleindiagnosis,prognostication,andtreatment.Futuregoalsofresearchshouldincludethedevelopmentofdisease-modifyingtherapies,andfurthergeneticunderstandingofthecategorywilllikelyformthefoundationoftheseefforts.

简介：Objective:Theaimofthisstudywastoestablishtheriskscoringsystemtowardstheadvancedcolorectalneoplasm(CN)riskintheaverage-riskpopulationsinthesouthernJiangsuProvince,andtoevaluatethescreeningefficacy.Methods:Totally905casesoftheaverage-riskpopulationswhoreceivedthecolonoscopywereselectedastheobjective.Themultivariatelogisticregressionanalysismethodwasusedtoestablishthescoringsystemtowardstheoccurrenceriskoftheadvancedtumor,anditsscreeningefficacywasevaluatedthroughthepredictionconsistency,distinguishingabilityandscreeningaccuracy.Results:Thescoringsystemconsistedoffivevariables,namelyage,gender,coronaryheartdisease,eggintakeandstoolfrequency.Theresultsrevealedthatithadgoodpredictionconsistency(P=0.205)anddistinguishingability[theareaunderthereceiveroperatingcharacteristic(ROC)curvewas0.75,with95%confidenceinterval(95%CI)of0.69-0.82].Thus,2.5pointswassetasthescreeningcutoffvalue,anditssensitivity,specificity,accuracy,positivepredictivevalue,negativepredictivevalue,positivelikelihoodratioandnegativelikelihoodratiowere93.8%,47.6%,50.1%,9.1%,99.3%,1.79and0.13,respectively.Conclusions:Theestablishedscoringsystemhadgoodscreeningefficacy,andcanbeusedasthescreeningtoolapplyingtotheCNscreeningwithintheaverage-riskpopulationsinthesouthernJiangsuProvince.

简介：AbstractIntroduction:Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by a predisposition for the development of visceral malignant disease and sebaceous gland neoplasms, and it is caused by germline mutations in the mismatch repair genes MSH2 and MLH1.Here, we reported a patient with sebaceous neoplasm containing MLH1 c.199G>A mutation.Case presentation:The proband was a 42-year-old man who had undergone surgical resection of colorectal adenocarcinoma at 28 years. He presented with macular rashes and red papule. Histological examination of the lesion on his head revealed a sebaceoma at 37 years. Follow-up of the family history revealed that the proband’s 65-year-old mother had been highly suspected to have Lynch syndrome with colorectal cancer at 40 years of age. The proband’s daughter underwent colonoscopy because of blood in the stool at the age of 13 years, but no abnormalities were found.Discussion:We have herein reported a pathogenic missense mutation c.199G>A (p.Gly67Arg) in exon 2 of MLH1 in patients with MTS. This mutation has been reported in patients with Lynch syndrome who have no skin tumors. However, we also found that some patients with MTS had no history of any internal malignancy or skin tumor. Our data support the idea that a hiatus of many years may pass before both elements-a sebaceous neoplasm and an internal cancer-are present in a patient, thus finally allowing the diagnosis of MTS.Conclusion:A pathogenic Lynch syndrome mutation c.199G>A in exon 2 of the MLH1 gene was found in a patient with MTS who presented with a sebaceous neoplasm.

简介：AbstractBackground:Fecal immunochemical tests (FITs) are the most widely used non-invasive tests in colorectal cancer (CRC) screening. However, evidence about the direct comparison of the test performance of the self-administered qualitative a laboratory-based quantitative FITs in a CRC screening setting is sparse.Methods:Based on a CRC screening trial (TARGET-C), we included 3144 pre-colonoscopy fecal samples, including 24 CRCs, 230 advanced adenomas, 622 non-advanced adenomas, and 2268 participants without significant findings at colonoscopy. Three self-administered qualitative FITs (Pupu tube) with positivity thresholds of 8.0, 14.4, or 20.8 μg hemoglobin (Hb)/g preset by the manufacturer and one laboratory-based quantitative FIT (OC-Sensor) with a positivity threshold of 20 μg Hb/g recommended by the manufacturer were tested by trained staff in the central laboratory. The diagnostic performance of the FITs for detecting colorectal neoplasms was compared in the different scenarios using the preset and adjusted thresholds (for the quantitative FIT).Results:At the thresholds preset by the manufacturers, apart from the qualitative FIT-3, significantly higher sensitivities for detecting advanced adenoma were observed for the qualitative FIT-1 (33.9% [95% CI: 28.7-39.4%]) and qualitative FIT-2 (22.2% [95% CI: 17.7-27.2%]) compared to the quantitative FIT (11.7% [95% CI: 8.4-15.8%]), while at a cost of significantly lower specificities. However, such difference was not observed for detecting CRC. For scenarios of adjusting the positivity thresholds of the quantitative FIT to yield comparable specificity or comparable positivity rate to the three qualitative FITs accordingly, there were no significant differences in terms of sensitivity, specificity, positive/negative predictive values and positive/negative likelihood ratios for detecting CRC or advanced adenoma between the two types of FITs, which was further evidenced in ROC analysis.Conclusions:Although the self-administered qualitative and the laboratory-based quantitative FITs had varied test performance at the positivity thresholds preset by the manufacturer, such heterogeneity could be overcome by adjusting thresholds to yield comparable specificities or positivity rates. Future CRC screening programs should select appropriate types of FITs and define the thresholds based on the targeted specificities and manageable positivity rates.