2019
Cryptogenic cirrhosis: Old and new perspectives in the era of molecular and genomic medicine
Nalbantoglu I, Jain D. Cryptogenic cirrhosis: Old and new perspectives in the era of molecular and genomic medicine. Seminars In Diagnostic Pathology 2019, 36: 389-394. PMID: 31395291, DOI: 10.1053/j.semdp.2019.07.003.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCryptogenic cirrhosisCC casesLiver diseaseUnknown etiologyMain histologic findingsPossible genetic counselingChronic liver diseaseWhole-exome sequencingCirrhosis casesPediatric patientsTransplant eligibilityHistologic findingsHistologic patternPotential etiologiesHistologic examinationHistologic characterizationGenetic testingEtiologyPatientsExome sequencingDiagnostic abilityGenetic counselingGenetic alterationsDiagnosisNew disorder
2018
Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm
Joseph NM, Brunt EM, Marginean C, Nalbantoglu I, Snover DC, Thung SN, Yeh MM, Umetsu SE, Ferrell LD, Gill RM. Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm. The American Journal Of Surgical Pathology 2018, 42: 1201-1207. PMID: 29975248, DOI: 10.1097/pas.0000000000001110.Peer-Reviewed Original ResearchConceptsHepatic small vessel neoplasmVariant lesionsGNA14 mutationsVascular neoplasmLow-grade vascular neoplasmLow-grade neoplasmsVascular lesionsCavernous hemangiomaInfiltrative natureCytologic atypiaMolecular pathogenesisNeoplasmsPanel sequencingCopy number alterationsHotspot mutationsExome sequencingLesionsPathogenic mutationsSmall vesselsGNAQSame missense mutationNumber alterationsLiverMissense mutationsMutations