2020
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea
Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson‐Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 2020, 71: 1879-1882. PMID: 31863603, PMCID: PMC8577800, DOI: 10.1002/hep.31087.Peer-Reviewed Original Research
2019
Immunohistochemical and molecular features of cholangiolocellular carcinoma are similar to well-differentiated intrahepatic cholangiocarcinoma
Balitzer D, Joseph NM, Ferrell L, Shafizadeh N, Jain D, Zhang X, Yeh M, di Tommaso L, Kakar S. Immunohistochemical and molecular features of cholangiolocellular carcinoma are similar to well-differentiated intrahepatic cholangiocarcinoma. Modern Pathology 2019, 32: 1486-1494. PMID: 31186529, DOI: 10.1038/s41379-019-0290-0.Peer-Reviewed Original ResearchConceptsCholangiolocellular carcinomaIntrahepatic cholangiocarcinomaLow-grade cytologic atypiaPrimary liver carcinomaCapture-based next-generation sequencingCanals of HeringNumber alterationsHistologic subtypeCarcinoma componentCytologic atypiaImmunohistochemistry resultsCholangiocarcinomaLiver carcinomaCarcinomaSelect intronsCell subtypesStem cell subtypesHepatocellular componentDistinct entityMutational profileSubtypesNext-generation sequencingCD56Genomic profilesCD117
2017
Massive Gastric Juvenile Polyposis
Lawless ME, Toweill DL, Jewell KD, Jain D, Lamps L, Krasinskas AM, Swanson PE, Upton MP, Yeh MM. Massive Gastric Juvenile Polyposis. American Journal Of Clinical Pathology 2017, 147: 390-390. PMID: 28340255, DOI: 10.1093/ajcp/aqx015.Peer-Reviewed Original ResearchConceptsGastric juvenile polyposisJuvenile polyposisJuvenile polypsMixed inflammatory infiltrateHigh-grade dysplasiaJuvenile polyposis syndromeAncillary diagnostic testsIntramucosal adenocarcinomaInflammatory infiltrateSecond patientSevere bleedingClinicopathologic featuresIntraepithelial neoplasiaEdematous stromaSevere dysplasiaPolyposis syndromeColumnar epitheliumPolyposisAdenocarcinomaPatientsDiagnostic testsStomachPolypsDysplasiaHypoalbuminemia
2016
HER2 Testing and Clinical Decision Making in Gastroesophageal Adenocarcinoma: Guideline From the College of American Pathologists, American Society for Clinical Pathology, and American Society of Clinical Oncology
Bartley AN, Washington MK, Ventura CB, Ismaila N, Colasacco C, Benson AB, Carrato A, Gulley ML, Jain D, Kakar S, Mackay HJ, Streutker C, Tang L, Troxell M, Ajani JA. HER2 Testing and Clinical Decision Making in Gastroesophageal Adenocarcinoma: Guideline From the College of American Pathologists, American Society for Clinical Pathology, and American Society of Clinical Oncology. Archives Of Pathology & Laboratory Medicine 2016, 140: 1345-1363. PMID: 27841667, DOI: 10.5858/arpa.2016-0331-cp.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaBiomarkers, TumorClinical Decision-MakingCombined Modality TherapyDecision TreesDiagnosis, DifferentialEsophageal NeoplasmsEvidence-Based MedicineHumansMedical OncologyMolecular Diagnostic TechniquesMolecular Targeted TherapyMutationNeoplasm GradingNeoplasm StagingPathology, ClinicalReceptor, ErbB-2Societies, MedicalStomach NeoplasmsSystematic Reviews as TopicUnited StatesConceptsAdvanced gastroesophageal adenocarcinomaGastroesophageal adenocarcinomaEvidence-based guidelinesAssessment of HER2Clinical OncologyAmerican SocietyClinical decisionClinical pathologyAmerican PathologistsAccuracy of HER2Initial therapyMorphologic selectionOptimal HER2Combination chemotherapyHER2 statusOnly biomarkerSpecific therapyHER2 testingTumor specimensPatientsHER2Systematic reviewClinical implicationsNeoplastic tissueTherapyACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: 11289-11293. PMID: 27647924, PMCID: PMC5056113, DOI: 10.1073/pnas.1613228113.Peer-Reviewed Original ResearchConceptsAcyl-CoA oxidase 2Liver fibrosisCognitive impairmentElevated transaminase levelsTreatable inborn errorsBile acid synthesisBile acid intermediatesBile acid biosynthesisTransaminase elevationTransaminase levelsMarked elevationMild ataxiaBile acidsPatient's liverOxidase 2Acyl-CoA oxidaseOld maleBranched chain acyl-CoA oxidaseInborn errorsExome sequencingPremature termination mutationsBranched-chain fatty acidsFibrosisAtaxiaLiver
2013
KRAS Mutations are Associated With Specific Morphologic Features in Colon Cancer
Gunal A, Hui P, Kilic S, Xu R, Jain D, Mitchell K, Robert M, Kenney B. KRAS Mutations are Associated With Specific Morphologic Features in Colon Cancer. Journal Of Clinical Gastroenterology 2013, 47: 509-514. PMID: 23090042, DOI: 10.1097/mcg.0b013e3182703030.Peer-Reviewed Original ResearchConceptsKRAS mutation statusKRAS mutationsSpecific morphologic featuresColon cancerMorphologic featuresMutation statusAnti-epidermal growth factor receptor therapyDNA mismatch repair gene mutationsPeritumoral lymphocytic responseT3-T4 statusStage IV diseaseMismatch repair gene mutationsColon cancer resectionTime of resectionRight-sided locationRepair gene mutationsPearson χ2 testAdenocarcinoma morphologyKRAS testingCancer resectionLymphovascular invasionHistologic featuresReceptor therapyLymphocytic responseHistologic characteristics
2008
Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1
Gallagher AR, Esquivel EL, Briere TS, Tian X, Mitobe M, Menezes LF, Markowitz GS, Jain D, Onuchic LF, Somlo S. Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1. American Journal Of Pathology 2008, 172: 417-429. PMID: 18202188, PMCID: PMC2312372, DOI: 10.2353/ajpath.2008.070381.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBile DuctsBiliary TractBlotting, SouthernBlotting, WesternCiliaDisease Models, AnimalHumansImmunohistochemistryIn Situ HybridizationKidney Tubules, ProximalLiver DiseasesMiceMice, Mutant StrainsMutationPancreatic DiseasesPolycystic Kidney, Autosomal RecessiveReceptors, Cell SurfaceReverse Transcriptase Polymerase Chain ReactionConceptsPolycystic kidney diseaseAutosomal recessive polycystic kidney diseaseRecessive polycystic kidney diseaseKidney diseaseMouse modelCommon bile duct dilationBile duct dilationBile duct proliferationAutosomal dominant polycystic kidney diseaseProgressive cyst formationDistal nephron segmentsDominant polycystic kidney diseaseExtrahepatic manifestationsDuct dilationBiliary tractPeriportal fibrosisDuct proliferationBile ductFibrocystic diseaseOrthologous modelPancreatic cystsProximal tubulesMice harboringSusceptibility of tissuesNephron segments