2012
MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk?
Shifrin A, Bale A, Dykas D, Fay A, Belitsis K, Fomin S, Lann D, Villanueva R, Zheng M, Govil S, Erler B, Matulewicz T, Topilow A, Krasna M, Vernick J. MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk? Journal Of Clinical Oncology 2012, 30: 1540-1540. DOI: 10.1200/jco.2012.30.15_suppl.1540.Peer-Reviewed Original ResearchPancreatic endocrine tumorsMEN1 gene mutationsPrimary hyperparathyroidismFamilial Isolated HyperparathyroidismGenotype-phenotype correlationGene mutationsPhenotypic presentationDifferent phenotypic presentationsExon 7 mutationsMalignant gastrinomaThymic carcinomaTotal pancreatectomySurgical treatmentEndocrine tumorsPituitary adenomasMEN1 syndromeSyndrome resultsClinical phenotypeAge 32Grading systemMEN1 mutationsEarly onsetDiagnostic testsAge 79Codon 103
1999
Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children
Heptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.Peer-Reviewed Original ResearchConceptsMedullary thyroid carcinomaFamilial medullary thyroid carcinomaRET geneLymph node metastasisMutation-positive family membersC-cell hyperplasiaEvidence of pathologyDecades of lifeFamily membersGenotype-phenotype correlationCodon 618Node metastasisProvocative testingClinical spectrumCodon 804Extracellular cysteine-rich regionPathologic manifestationsThyroid carcinomaNormal responseGenetic testingCarcinomaChildrenPresymptomatic diagnosisExon 14Microscopic evidence