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Endocrine-related cancer v.24 no.2, 2017년, pp.107 - 117  

Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma

Morandi, Luca ; Righi, Alberto ; Maletta, Francesca ; Rucci, Paola ; Pagni, Fabio ; Gallo, Marco ; Rossi, Sabrina ; Caporali, Leonardo ; Sapino, Anna ; Lloyd, Ricardo V ; Asioli, Sofia ;
  • 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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