Hobnail variant of papillary thyroid carcinoma: molecular profiling and comparison to classical papillary thyroid carcinoma, poorly differentiated thyroid carcinoma and anaplastic thyroid carcinoma
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Lianghong Teng1,2, Wanglong Deng3, Junliang Lu1, Jing Zhang1, Xinyu Ren1, Huanli Duan1, Shannon Chuai3, Feidie Duan3, Wei Gao2, Tao Lu1, Huanwen Wu1, Zhiyong Liang1
1Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, China
2Department of Pathology, Xuanwu Hospital, Capital Medical University, Beijing, China
3Burning Rock Biotech Co. Ltd., Guangzhou, China
Zhiyong Liang, email: [email protected]
Huanwen Wu, email: [email protected]
Keywords: papillary thyroid carcinoma, hobnail variant, next-generation sequencing, molecular features, TERT promoter mutation
Received: December 06, 2016 Accepted: January 24, 2017 Published: February 28, 2017
Background: As a rare but aggressive papillary thyroid carcinoma (PTC) variant, the genetic changes of hobnail variant of PTC (HVPTC) are still unclear.
Results: The prevalence of HVPTC was 1.69% (18/1062) of all PTC diagnosed in our cohort. 73 samples from 55 patients (17 HVPTC, 26 CPTC, 7 PDTC and 5 ATC) were successfully analyzed using targeted NGS with an 18-gene panel. Thirty-seven mutation variant types were identified among 11 genes. BRAF V600E mutation was the most common mutation, which is present in almost all HVPTC samples (16/17, 94%), most CPTC samples (20/26, 77%), and none of the ATC and PDTC samples. TERT promoter mutation (C228T) was identified in 2 ATC and one HVPTC patient. RAS and TP53 mutation are almost exclusively present among ATC and PDTC samples although TP53 mutation was also observed in 3 HVPTC patients. Six different GNAS mutations were identified among 8 CPTC patients (31%) and none of the HVPTC patients. The only patient who died of disease progression harbored concomitant TERT C228T mutation, BRAF V600E mutation and TP53 mutation.
Methods: HVPTC cases were identified from a group of 1062 consecutive surgical specimens diagnosed as PTC between 2000 and 2010. Targeted next-generation sequencing (NGS) was applied to investigate the mutation spectrum of HVPTC, compared to classical PTC (CPTC), poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC).
Conclusion: As an aggressive variant of PTC, HVPTC has relatively specific molecular features, which is somewhat different from both CPTC and ATC/PDTC and may underlie its relatively aggressive behavior.
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