2023
Extrauterine epithelioid trophoblastic tumour and its somatic carcinoma mimics: short tandem repeat genotyping meets the diagnostic challenges
Niu N, Ordulu Z, Burak Z, Buza N, Hui P. Extrauterine epithelioid trophoblastic tumour and its somatic carcinoma mimics: short tandem repeat genotyping meets the diagnostic challenges. Histopathology 2023, 84: 325-335. PMID: 37743102, DOI: 10.1111/his.15054.Peer-Reviewed Original ResearchConceptsEpithelioid trophoblastic tumorGestational trophoblastic tumorsTrophoblastic tumorExtrauterine sitesSomatic carcinomasDifferential diagnosisDiagnosis of ETTExtrauterine epithelioid trophoblastic tumorsTriple-negative breast carcinomaTrophoblastic differentiationMetastatic triple-negative breast carcinomaPrimary lung carcinomaMain differential diagnosisMajor differential diagnosisEctopic gestationImmunohistochemical featuresDiagnostic challengeMetastatic tumorsLung carcinomaBreast carcinomaPatient managementEpithelioid malignanciesImmunohistochemical levelCarcinomaTumor tissue
2021
Genotyping diagnosis of gestational trophoblastic disease: frontiers in precision medicine
Buza N, Hui P. Genotyping diagnosis of gestational trophoblastic disease: frontiers in precision medicine. Modern Pathology 2021, 34: 1658-1672. PMID: 34088998, DOI: 10.1038/s41379-021-00831-9.Peer-Reviewed Original ResearchConceptsGestational trophoblastic diseaseTrophoblastic diseaseGestational trophoblastic tumorsGestational trophoblastic neoplasiaRoutine diagnostic workupDNA genotypingSignificant clinical relevancePowerful ancillary toolFIGO/Genetic zygosityGestational eventIndex gestationTrophoblastic tumorTrophoblastic neoplasiaGestational choriocarcinomaPrognostic stratificationDiagnostic workupPrognostic assessmentClinical relevanceClinical practiceGestational originMolecular diagnostic capabilitiesPatient careSporadic hydatidiformCopy number alterationsIntegrated mutational landscape analysis of uterine leiomyosarcomas
Choi J, Manzano A, Dong W, Bellone S, Bonazzoli E, Zammataro L, Yao X, Deshpande A, Zaidi S, Guglielmi A, Gnutti B, Nagarkatti N, Tymon-Rosario JR, Harold J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Jeong K, Zhao S, Buza N, Hui P, Ravaggi A, Bignotti E, Romani C, Todeschini P, Zanotti L, Odicino F, Pecorelli S, Ardighieri L, Bilguvar K, Quick CM, Silasi DA, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Imielinski M, Schwartz PE, Alexandrov LB, Lifton RP, Schlessinger J, Santin AD. Integrated mutational landscape analysis of uterine leiomyosarcomas. Proceedings Of The National Academy Of Sciences Of The United States Of America 2021, 118: e2025182118. PMID: 33876771, PMCID: PMC8053980, DOI: 10.1073/pnas.2025182118.Peer-Reviewed Original ResearchConceptsHomologous recombination DNA repair deficiencySequencing dataWhole-genome sequencing dataRNA sequencing dataTCGA samplesCopy number variation analysisATRX/DAXXCopy number lossNumber variation analysisDNA repair deficiencyWhole-exome sequencing dataRecurrent somatic mutationsCopy number gainsCancer Genome AtlasPatient-derived xenograftsTumor suppressorAkt geneGenetic landscapeHRD signaturesPTEN geneGenesMost fusionsC-MycMutational signaturesC-myc/
2019
Precision genotyping diagnosis of lung tumors with trophoblastic morphology in young women
Buza N, Baine I, Hui P. Precision genotyping diagnosis of lung tumors with trophoblastic morphology in young women. Modern Pathology 2019, 32: 1271-1280. PMID: 31028360, DOI: 10.1038/s41379-019-0275-z.Peer-Reviewed Original ResearchConceptsGestational choriocarcinomaLung carcinomaLung massClinical historyLung tumorsGestational originSerum beta-hCG levelsYoung womenTrophoblastic differentiationMetastatic gestational choriocarcinomaSerum beta-hCGBeta-hCG levelsEvidence of diseaseUnique diagnostic challengePrimary lung carcinomaGestational trophoblastic neoplasiaDifferent chemotherapeutic regimensDifferent primary sitesWedge resectionBeta-hCGFemale patientsMetastatic choriocarcinomaThird patientChemotherapeutic regimensImmunophenotypical features
2014
Genotyping Diagnosis of Nongestational Choriocarcinoma Involving Fallopian Tube and Broad Ligament
Buza N, Rutherford T, Hui P. Genotyping Diagnosis of Nongestational Choriocarcinoma Involving Fallopian Tube and Broad Ligament. International Journal Of Gynecological Pathology 2014, 33: 58-63. PMID: 24300537, DOI: 10.1097/pgp.0b013e31827cd386.Peer-Reviewed Original ResearchConceptsBroad ligamentFallopian tubePelvic lymph node metastasisMultiagent chemotherapy regimenRecurrence 26 monthsRight adnexal massRight fallopian tubeLymph node metastasisOnly necrotic tissueLast menstrual periodLarge tumor massMicroscopic examinationChemotherapy regimenEctopic pregnancyMultiagent chemotherapyNongestational choriocarcinomaPure choriocarcinomaNode metastasisPatient ageInitial diagnosisInitial presentationGestational choriocarcinomaAdnexal massesFinal diagnosisEmergency room