title: PTEN and TP53 Mutations in Oncocytic Follicular Carcinoma.
abstract: Oncocytic follicular carcinoma (OFC)/Hürthle cell carcinoma represents 3-4 % thyroid carcinomas and can be associated with more aggressive behavior and compromised survival compared to non-oncocytic thyroid carcinoma. In this study, we utilized targeted next-generation sequencing to investigate the molecular alterations in a heterogeneous group of clinically aggressive OFC. A total of 12 cases of OFC were included in this study. Targeted next-generation sequencing was performed using panels of 47 or 20 genes, which are frequently mutated in solid tumors. The case cohort comprised eight cases of angioinvasive OFC, two cases of poorly differentiated OFC, one case of OFC with anaplastic change, and one case of OFC with capsular invasion only. Five out of 12 cases (42 %) harbored TP53 mutation. PTEN mutations were also seen in three cases with TP53 mutation (25 %). Based on this study, TP53 and PTEN are possibly involved in the pathogenesis of OFC. Further studies on a larger case cohort are needed to further elucidate this mechanism and its effect on clinical behavior of these intriguing tumors.
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. weishuanzeng@hotmail.com.
authors.forename: Shuanzeng
authors.initials: S
authors.lastname: Wei
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. linus@mail.med.upenn.edu.
authors.forename: Virginia A
authors.initials: VA
authors.lastname: LiVolsi
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. kmontone@mail.med.upenn.edu.
authors.forename: Kathleen T
authors.initials: KT
authors.lastname: Montone
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3020 Market Street, Philadelphia, PA, 19104, USA. Jennifer.Morrissette@uphs.upenn.edu.
authors.forename: Jennifer J D
authors.initials: JJ
authors.lastname: Morrissette
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. baloch@mail.med.upenn.edu.
authors.forename: Zubair W
authors.initials: ZW
authors.lastname: Baloch
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000235:genetics*; D018249:Adenoma, Oxyphilic / Q000235:genetics*; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: Hürthle cell carcinoma; Mutation; Next generation sequencing; Oncocytic follicular carcinoma; PTEN; TP53; Thyroid