2023
Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population
Jiao J, Finberg K, Jain D, Morotti R. Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population. Pediatric And Developmental Pathology 2023, 26: 394-403. PMID: 37334553, DOI: 10.1177/10935266231175426.Peer-Reviewed Case Reports and Technical NotesConceptsHepatocellular adenomaPediatric populationInflammatory HCASonic hedgehog hepatocellular adenomasYoung type 3Maturity-onset diabetesInflammatory hepatocellular adenomaΒ-catenin-activated hepatocellular adenomaAbernethy malformationPhenotype-genotype correlationClinical historyHCA subtypesH-HCACase 2Case 1Type 3Pathological informationB-HCASubtypesFamily surveillanceLimited studiesMalesClinicopathologic characterization of hepatocellular adenomas in men: a multicenter experience
González I, Torbenson M, Sharifai N, Byrnes K, Chatterjee D, Kakar S, Yeh M, Wu T, Zhang X, Jain D. Clinicopathologic characterization of hepatocellular adenomas in men: a multicenter experience. Human Pathology 2023, 138: 24-33. PMID: 37245629, DOI: 10.1016/j.humpath.2023.05.010.Peer-Reviewed Original ResearchConceptsHepatocellular adenomaHepatocellular carcinomaMalignant transformationMulticenter experienceMean ageWorld Health Organization classificationConcomitant hepatocellular carcinomaAndrogen receptor expressionBenign liver neoplasmUnclassified hepatocellular adenomaUncertain malignant potentialInflammatory hepatocellular adenomaΒ-catenin-activated hepatocellular adenomaClinicopathologic characterizationEntire cohortHCA casesCommon subtypeMalignant potentialOrganization classificationReproductive ageAllred score systemResection casesReceptor expressionHepatocellular neoplasmsLiver neoplasms
2021
Pediatric Hepatocellular Adenomas
Pacheco MC, Torbenson MS, Wu TT, Kakar S, Jain D, Yeh MM. Pediatric Hepatocellular Adenomas. The American Journal Of Surgical Pathology 2021, 45: 1641-1647. PMID: 34148984, PMCID: PMC8608351, DOI: 10.1097/pas.0000000000001763.Peer-Reviewed Original ResearchConceptsHepatocellular adenomaPrepubescent groupPediatric patientsNonsyndromic groupΒ-cateninAdenoma subtypesImmunohistochemical staining profileHepatocellular adenoma subtypesPostpubescent groupClinical characteristicsUnclassified subtypeClinical historySyndromic groupsImmunohistochemical stainingPatientsType adenomasAdenomasSyndromeAge groupsLarger studyStaining profileSubtypesGreater percentageGroupLanguage search
2020
Hepatocellular neoplasms arising in genetic metabolic disorders: steatosis is common in both the tumor and background liver
Cheng L, Jain D, Kakar S, Torbenson MS, Wu TT, Yeh MM. Hepatocellular neoplasms arising in genetic metabolic disorders: steatosis is common in both the tumor and background liver. Human Pathology 2020, 108: 93-99. PMID: 33245984, DOI: 10.1016/j.humpath.2020.11.012.Peer-Reviewed Original ResearchConceptsGenetic metabolic disordersMetabolic disordersHepatocellular neoplasmsBackground liverType 1Ornithine carbamyl transferase deficiencyRare genetic metabolic disorderRare case reportBackground liver parenchymaGlycogen storage disease type 1Hereditary tyrosinemia type 1Disease type 1Tyrosinemia type 1Younger patientsRetrospective studyCase reportCommon findingLiver parenchymaSteatosisTransferase deficiencyPathological characterizationNeoplasmsTumorsDisordersPatients
2019
Etiology of cirrhosis in the young
Olave MC, Gurung A, Mistry PK, Kakar S, Yeh M, Xu M, Wu TT, Torbenson M, Jain D. Etiology of cirrhosis in the young. Human Pathology 2019, 96: 96-103. PMID: 31698008, DOI: 10.1016/j.humpath.2019.09.015.Peer-Reviewed Original ResearchConceptsEtiology of cirrhosisCommon causeCryptogenic cirrhosisViral hepatitidesAge groupsMulti-institutional retrospective studyYears age group childrenIncidence of cirrhosisCause of cirrhosisFatty liver diseaseDiagnosis of cirrhosisAge group childrenCongenital cholestatic diseasesClinical chartsYounger patientsLiver diseasePathology databaseRetrospective studyCholestatic diseasePathology reportsCirrhosisMetabolic disordersPatientsScant dataYoung adults
2018
Histologic features of autoimmune hepatitis: a critical appraisal
Gurung A, Assis DN, McCarty TR, Mitchell KA, Boyer JL, Jain D. Histologic features of autoimmune hepatitis: a critical appraisal. Human Pathology 2018, 82: 51-60. PMID: 30041025, DOI: 10.1016/j.humpath.2018.07.014.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedBiopsyChildChild, PreschoolDatabases, FactualEmperipolesisFemaleHepatitis C, ChronicHepatitis, AutoimmuneHepatocytesHumansKupffer CellsLiverLiver CirrhosisLymphocytesMaleMiddle AgedPlasma CellsPredictive Value of TestsReproducibility of ResultsRetrospective StudiesSeverity of Illness IndexYoung AdultConceptsProminent plasma cellsAutoimmune hepatitisHistologic featuresPlasma cellsInflammatory gradePortal tractsScoring systemInitiation of therapySeverity of hepatitisDifferent control groupsChronic hepatitisHepatitis CFibrosis stageStudy groupDisease processHepatitisControl groupHyaline globulesFurther studiesPatientsTractCritical appraisalCellsGradeTypical featuresPrototheca zopfii Colitis in Inherited CARD9 Deficiency
Sari S, Dalgic B, Muehlenbachs A, DeLeon-Carnes M, Goldsmith CS, Ekinci O, Jain D, Keating MK, Vilarinho S. Prototheca zopfii Colitis in Inherited CARD9 Deficiency. The Journal Of Infectious Diseases 2018, 218: 485-489. PMID: 29659908, PMCID: PMC6049027, DOI: 10.1093/infdis/jiy198.Peer-Reviewed Original ResearchConceptsCARD9 deficiencyInherited CARD9 DeficiencySpecific immune defectsAbdominal painImmune defectsBloody diarrheaImmunocompromised individualsExome sequencingHuman protothecosisConsanguineous unionsProtothecosisNew mechanistic insightsFrameshift mutationDeficiencyPancolitisColitisPainDiarrheaPatientsPrototheca zopfiiImmunodeficiencyCARD9InfectionImmunityMonths
2016
ACOX2 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 acidsFibrosisAtaxiaLiverRecurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension
Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 2016, 63: 1977-1986. PMID: 26874653, PMCID: PMC4874872, DOI: 10.1002/hep.28499.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsCattleChildChild, PreschoolDNA Mutational AnalysisDogsFemaleGenes, RecessiveHomozygoteHumansHypertension, PortalInfantLiver FailureMaleMolecular Sequence DataPedigreePhosphotransferases (Alcohol Group Acceptor)Principal Component AnalysisRatsYoung AdultConceptsIdiopathic noncirrhotic portal hypertensionNoncirrhotic portal hypertensionPortal hypertensionHuman immunodeficiency viral infectionNoncirrhotic liver diseaseStable portal hypertensionSubset of patientsTreatment of patientsNucleoside analog didanosineLiver failureIndeterminate etiologyLiver diseaseHypertensionKinase levelsNew genetic testsViral infectionMechanisms mediatingDGUOK deficiencyPhenotypic spectrumSpecific causesDeoxyguanosine kinaseExome sequencingPatientsConsanguineous familyFunction mutations
2015
Hepatic Arteriolosclerosis
Balakrishnan M, Garcia-Tsao G, Deng Y, Ciarleglio M, Jain D. Hepatic Arteriolosclerosis. The American Journal Of Surgical Pathology 2015, 39: 1000-1009. PMID: 25786083, PMCID: PMC4466001, DOI: 10.1097/pas.0000000000000419.Peer-Reviewed Original ResearchConceptsPresence of diabetesBody mass indexDiabetic patientsSinusoidal fibrosisMass indexHepatitis C virus (HCV) infection statusHigher average body mass indexAverage body mass indexAbsence of steatosisHepatic sinusoidal fibrosisSmall-vessel complicationsPrevalence of hypertensionRight heart failureLiver biopsy findingsSignificant alcohol useAdjusted odds ratioTime of biopsyComplications of diabetesPattern of fibrosisType 2 diabetesAvailable clinical informationCase-control studyVirus infection statusForms of steatohepatitisGlycogenic hepatopathy
2014
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceCarboxylic Ester HydrolasesChildCholestasisDNA Mutational AnalysisEnd Stage Liver DiseaseExomeFatal OutcomeFemaleGenes, RecessiveHepatolenticular DegenerationHeterozygoteHomozygoteHumansInfant, NewbornLiver FailureLiver Failure, AcuteMaleMembrane ProteinsMitochondrial ProteinsMolecular Sequence DataPedigreeReceptor, Notch2RNA Splice SitesSequence Homology, Amino AcidConceptsFatal acute liver failureWhole-exome sequencingAdvanced liver diseaseAcute liver failureIndeterminate etiologyYear old femaleLiver failureLiver diseaseMetabolic liver diseasePatient 3Treatment optionsPhenotypic spectrumPediatric liver failureDecompensated liver cirrhosisManagement of childrenOptimal treatment optionsAge 3 monthsNovel inborn errorLiver transplantAtypical presentationLiver cirrhosisHepatocerebral mitochondrial DNA depletion syndromePatient 1Patient 2Unknown etiology
2013
Diagnostic utility and limitations of glutamine synthetase and serum amyloid-associated protein immunohistochemistry in the distinction of focal nodular hyperplasia and inflammatory hepatocellular adenoma
Joseph NM, Ferrell LD, Jain D, Torbenson MS, Wu TT, Yeh MM, Kakar S. Diagnostic utility and limitations of glutamine synthetase and serum amyloid-associated protein immunohistochemistry in the distinction of focal nodular hyperplasia and inflammatory hepatocellular adenoma. Modern Pathology 2013, 27: 62-72. PMID: 23807780, DOI: 10.1038/modpathol.2013.114.Peer-Reviewed Original ResearchMeSH KeywordsAdenoma, Liver CellAdolescentAdultAgedBiomarkers, TumorBiopsyChildChild, PreschoolC-Reactive ProteinDiagnosis, DifferentialDiagnostic ErrorsFemaleFocal Nodular HyperplasiaGlutamate-Ammonia LigaseHumansImmunohistochemistryInflammation MediatorsLiver NeoplasmsMaleMiddle AgedPredictive Value of TestsSerum Amyloid A ProteinYoung AdultConceptsSerum amyloid-associated proteinFocal nodular hyperplasiaAmyloid-associated proteinsInflammatory hepatocellular adenomaNodular hyperplasiaHepatocellular adenomaStaining patternDuctular reactionFibrous stromaFocal nodular hyperplasia casesMap-like patternOverlapping histological featuresGlutamine synthetase stainingHistological featuresProtein immunohistochemistryHyperplasia casesIndeterminate lesionsPositive stainingHyperplasiaDiagnostic utilityAdenomasBlood vesselsFrequent overlapStainingDiagnostic errors
2012
Reticulin Loss in Benign Fatty Liver
Singhi AD, Jain D, Kakar S, Wu TT, Yeh MM, Torbenson M. Reticulin Loss in Benign Fatty Liver. The American Journal Of Surgical Pathology 2012, 36: 710-715. PMID: 22498821, DOI: 10.1097/pas.0b013e3182495c73.Peer-Reviewed Original ResearchConceptsLoss of reticulinFatty changeHepatic adenomaHepatocellular carcinomaReticulin stainingDiagnostic pitfallsImportant diagnostic pitfallMarked steatosisModerate steatosisNonalcoholic steatohepatitisMild steatosisFibrosis stageReticulin stainNumber of fociLiver tissueBenign fatty liverCases of steatohepatitisDegree of steatosisDegree of inflammationNon-neoplastic liver tissueAmount of steatosisMarked fatty changeCases of steatosisFine needle aspiratesFatty liverPhenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis
Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood 2012, 119: 4731-4740. PMID: 22493294, PMCID: PMC3367875, DOI: 10.1182/blood-2011-10-386862.Peer-Reviewed Original ResearchConceptsGenome analysisGenetic basisCancer phenotypeWhole exome captureNovel mutationsGenomic analysisPhenotype annotationsPhenotype diversityParallel sequencingHomozygosity mappingT-cell acute lymphoblastic lymphomaGenetic modifiersNovel insightsGene sequencingGaucher diseaseMalignancy phenotypeMutationsLysosomal accumulationPhenotypeHomozygous novel mutationPathogenic mutationsGenesMSH6 proteinsSequencingEnzyme studies
2011
Jejunal Adaptation in a Prepubertal Boy After Total Ileal Resection and Jejunostomy Placement
Cheng SX, Gathungu G, Pashankar D, Jain D, Husain SZ. Jejunal Adaptation in a Prepubertal Boy After Total Ileal Resection and Jejunostomy Placement. Journal Of Clinical Gastroenterology 2011, 45: 846-849. PMID: 21552141, PMCID: PMC4425287, DOI: 10.1097/mcg.0b013e318214b2d9.Peer-Reviewed Original Research
2009
Mycophenolate Mofetil-induced Colitis in Children
Phatak UP, Seo-Mayer P, Jain D, Selbst M, Husain S, Pashankar DS. Mycophenolate Mofetil-induced Colitis in Children. Journal Of Clinical Gastroenterology 2009, 43: 967-969. PMID: 19609219, DOI: 10.1097/mcg.0b013e3181a8754d.Peer-Reviewed Original ResearchConceptsMycophenolate mofetilSevere colitisMild gastrointestinal side effectsPediatric renal transplant patientsWithdrawal of MMFMaintenance of immunosuppressionRenal transplant patientsInflammatory bowel diseaseGastrointestinal side effectsCause of diarrheaMMF therapyHost diseaseTransplant patientsBowel diseaseColonic biopsiesHistologic featuresPatient 1Patient 2Histologic findingsComplete resolutionSide effectsColitisPatientsCausal associationMofetilDiagnostic use of cytokeratins, CD34, and neuronal cell adhesion molecule staining in focal nodular hyperplasia and hepatic adenoma
Ahmad I, Iyer A, Marginean CE, Yeh MM, Ferrell L, Qin L, Bifulco CB, Jain D. Diagnostic use of cytokeratins, CD34, and neuronal cell adhesion molecule staining in focal nodular hyperplasia and hepatic adenoma. Human Pathology 2009, 40: 726-734. PMID: 19157505, DOI: 10.1016/j.humpath.2008.10.018.Peer-Reviewed Original ResearchConceptsTelangiectatic focal nodular hyperplasiaFocal nodular hyperplasia casesFocal nodular hyperplasiaNeuronal cell adhesion moleculeHepatic adenomaNodular hyperplasiaCytokeratin 7Cytokeratin 19Hyperplasia casesNeedle biopsyCell adhesion moleculeBile ductAdhesion moleculesCD34 stainCytokeratin 7 stainingCorresponding resection specimensDiagnostic useParaffin-embedded sectionsDistinct staining patternsProspective studyResected specimensHistologic featuresResection specimenResection specimensCorresponding resections
2008
p120 Catenin Reduction and Cytoplasmic Relocalization Leads to Dysregulation of E-Cadherin in Solid Pseudopapillary Tumors of the Pancreas
Chetty R, Jain D, Serra S. p120 Catenin Reduction and Cytoplasmic Relocalization Leads to Dysregulation of E-Cadherin in Solid Pseudopapillary Tumors of the Pancreas. American Journal Of Clinical Pathology 2008, 130: 71-76. PMID: 18550473, DOI: 10.1309/feyd99txc4lmyva5.Peer-Reviewed Original Research
2004
Total fibrous obliteration of main portal vein and portal foam cell venopathy in chronic hepatic allograft rejection.
Jain D, Robert ME, Navarro V, Friedman AL, Crawford JM. Total fibrous obliteration of main portal vein and portal foam cell venopathy in chronic hepatic allograft rejection. Archives Of Pathology & Laboratory Medicine 2004, 128: 64-7. PMID: 14692809, DOI: 10.5858/2004-128-64-tfoomp.Peer-Reviewed Original ResearchConceptsChronic hepatic allograft rejectionHepatic allograft rejectionBile duct lossFoam cell changeAllograft rejectionPortal veinChronic rejectionHepatic allograftsFibrous obliterationDuct lossExperienced liver pathologistMild luminal narrowingTwo-vessel diseaseCell changesHepatic artery occlusionHepatitis C cirrhosisCases of cirrhosisMain portal veinElastic van GiesonC cirrhosisGraft dysfunctionGraft lossPortal venopathyPortal hypertensionArtery occlusion