TY - JOUR
T1 - PTEN and TP53 Mutations in Oncocytic Follicular Carcinoma
AU - Wei, Shuanzeng
AU - LiVolsi, Virginia A.
AU - Montone, Kathleen T.
AU - Morrissette, Jennifer J.D.
AU - Baloch, Zubair W.
N1 - Publisher Copyright:
© 2015, Springer Science+Business Media New York.
PY - 2015/12/1
Y1 - 2015/12/1
N2 - 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.
AB - 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.
KW - Hürthle cell carcinoma
KW - Mutation
KW - Next generation sequencing
KW - Oncocytic follicular carcinoma
KW - PTEN
KW - TP53
KW - Thyroid
UR - http://www.scopus.com/inward/record.url?scp=84947616515&partnerID=8YFLogxK
U2 - 10.1007/s12022-015-9403-6
DO - 10.1007/s12022-015-9403-6
M3 - Article
SN - 1046-3976
VL - 26
SP - 365
EP - 369
JO - Endocrine Pathology
JF - Endocrine Pathology
IS - 4
ER -