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Endocrine-related cancer v.24 no.2, 2017년, pp.107 - 117   SCI SCIE
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma

Morandi, Luca (Department of Biomedical and Neuromotor Sciences, Section of Anatomic Pathology 'M. Malpighi' at Bellaria Hospital, University of Bologna, Bologna, Italy ); Righi, Alberto (Department of Pathology, Rizzoli Institute, (IRCCS), Bologna, Italy ); Maletta, Francesca (Department of Medical Sciences, University of Turin, Turin, Italy ); Rucci, Paola (Section of Hygiene and Biostatistics, University of Bologna, Bologna, Italy ); Pagni, Fabio (Department of Pathology, University of Milano Bicocca, Monza, Italy ); Gallo, Marco (Oncological Endocrinology Unit, Department of Medical Sciences, AOU Città ); Rossi, Sabrina (della Salute e della Scienza di Torino, University of Turin, Turin, Italy ); Caporali, Leonardo (Department of Pathology, Regional Hospital, Treviso, Italy ); Sapino, Anna (Istituto delle Scienze Neurologiche di Bologna (IRCCS), Bellaria Hospital, Bologna, Italy ); Lloyd, Ricardo V (Institute for Cancer Research and Treatment (IRCCS), Candiolo, Italy ); Asioli, Sofia (University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA );
  • 초록  

    Hobnail variant of papillary thyroid carcinoma (HPTC) represents a recently described, aggressive and rare group of thyroid tumors with poorly understood pathogenesis. Molecular data about this group of cancers are few, and a more detailed molecular characterization of these tumors is needed. The main objective of the study is to define a comprehensive molecular typing of HPTC. Eighteen patients affected by HPTC, including eighteen primary tumors and four lymph node metastases, were screened for NRAS , KRAS , HRAS , BRAF , TP53 , PIK3CA , hTERT , PTEN , CDKN2A , EGFR , AKT1 , CTNNB1 and NOTCH1 gene mutations. Sequencing is conducted on the MiSEQ system, and molecular data are compared with clinical-pathologic data and follow-up. The patients include 14 women and 4 men. Ages range from 23 to 87 years. All 18 primary tumors of HPTC showed ≥30% hobnail features. BRAF and TP53 mutations are by far the most common genetic alterations in primary HPTC (72.2% and 55.6%, respectively), followed by hTERT (44.4%), PIK3CA (27.8%), CTNNB1 (16.7%), EGFR (11.1%), AKT1 (5.5%) and NOTCH1 (5.5%). The mutational pattern in primary tumors and metastasis was usually maintained. Univariate Cox regression analyses with bootstrap procedure indicated a significantly increased mortality risk in patients harboring BRAF mutation and BRAF mutation associated with TP53 and/or PIK3CA mutations. The detection of these multiple mutations appears to allow the identification of a subset of more aggressive tumors within the group and to bear information that should be useful for prognostic stratification of these patients including the planning of adjuvant therapy.


  • 주제어

    hobnail .   papillary thyroid carcinoma .   next-generation sequencing .   BRAF.  

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