2021
Epidermotropic metastasis of squamous cell carcinoma of the tonsil: A case report with molecular confirmation
Li P, Barbieri A, Walther Z, McNiff J, Panse G. Epidermotropic metastasis of squamous cell carcinoma of the tonsil: A case report with molecular confirmation. Journal Of Cutaneous Pathology 2021, 48: 1514-1519. PMID: 34302376, DOI: 10.1111/cup.14108.Peer-Reviewed Case Reports and Technical NotesConceptsSquamous cell carcinomaOropharyngeal squamous cell carcinomaCell carcinomaDe novo squamous cell carcinomaPrimary oropharyngeal squamous cell carcinomaTonsillar squamous cell carcinomaTargetable genetic aberrationsLesion biopsy specimensSkin biopsy specimenSkin lesion biopsy specimensMetastatic diseaseEpidermal involvementEpidermotropic metastasesMetastatic lesionsPoor prognosisBiopsy specimenCase reportClinical historyBiopsy specimensSecondary diseaseSkin lesionsTumor originMetastatic specimensMetastasisNeck skin
2001
Novel inactivating mutations of transforming growth factor‐β type I receptor gene in head‐and‐neck cancer metastases
Chen T, Yan W, Wells R, Rimm D, McNiff J, Leffell D, Reiss M. Novel inactivating mutations of transforming growth factor‐β type I receptor gene in head‐and‐neck cancer metastases. International Journal Of Cancer 2001, 93: 653-661. PMID: 11477574, DOI: 10.1002/ijc.1381.Peer-Reviewed Original ResearchMeSH KeywordsActivin Receptors, Type IAmino Acid SequenceDisease ProgressionEndoplasmic ReticulumFemaleHead and Neck NeoplasmsHumansMaleMolecular Sequence DataMutationNeoplasms, Glandular and EpithelialNeoplasms, Unknown PrimaryProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IReceptors, Transforming Growth Factor betaSequence Homology, Amino AcidSignal TransductionTransforming Growth Factor betaConceptsT beta RNeck cancer metastasisTGF-beta signalingCancer metastasisBeta RTGF betaBeta signalingLate-stage diseaseHuman epithelial neoplasmsCorresponding primary tumorsBreast cancer metastasisFine needle aspiratesTGF-beta type I receptorNovel inactivating mutationsBeta type I receptorType I receptorStage diseaseCarcinoma cell linesPrimary tumorCell cycle arrestEpithelial neoplasmsCodon 387MetastasisI receptorHuman tumors
1999
A common human skin tumour is caused by activating mutations in β-catenin
Chan E, Gat U, McNiff J, Fuchs E. A common human skin tumour is caused by activating mutations in β-catenin. Nature Genetics 1999, 21: 410-413. PMID: 10192393, DOI: 10.1038/7747.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBeta CateninCytoskeletal ProteinsDeoxyribonucleases, Type II Site-SpecificDNA-Binding ProteinsGene FrequencyHair DiseasesHumansLymphoid Enhancer-Binding Factor 1Molecular Sequence DataMutationPilomatrixomaPolymerase Chain ReactionSequence Analysis, DNASkin NeoplasmsTrans-ActivatorsTranscription FactorsConceptsAdenomatous polyposis coliΒ-cateninLEF/TCFHair matrix cellsΒ-catenin/TCFHair follicle morphogenesisAmino-terminal segmentDownstream transcriptional activationMost colon cancersHuman skin tumorsActivated β-cateninTranscriptional activationCytoplasmic β-cateninTarget genesLEF-1Constitutive activationMatrix cellsWnt pathwayHuman pilomatricomasC-MycSkin tumorsCell tumorigenesisMutationsPolyposis coliBiochemical evidence
1997
An Unexpected Spectrum of p53 Mutations from Squamous Cell Carcinomas in Psoriasis Patients Treated with PUVA
Wang X, McNiff J, Klump V, Asgari M, Gasparro F. An Unexpected Spectrum of p53 Mutations from Squamous Cell Carcinomas in Psoriasis Patients Treated with PUVA. Photochemistry And Photobiology 1997, 66: 294-299. PMID: 9277151, DOI: 10.1111/j.1751-1097.1997.tb08658.x.Peer-Reviewed Original ResearchConceptsSquamous cell carcinomaCell carcinomaP53 mutationsTreatment of psoriasisType mutationsP53 tumor suppressor genePUVA patientsPsoriasis patientsUVB phototherapyImmune suppressionTherapeutic historyNormal controlsPatientsTumor progressionUVB exposureTumor suppressor geneCarcinomaSingle-strand conformational polymorphismLong-wavelength ultraviolet radiationHuman cancersPUVAPsoriasisSkin cellsPhotochemotherapyDipyrimidine sites