Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of TERT Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer.

Jiheun Han,Jung-Sun Kim,Young Lyun Oh

doi:10.3390/diagnostics11010004

Abstract

(1) Introduction: Telomerase reverse transcriptase (TERT) promoter mutations are associated with unfavorable clinical outcomes in papillary thyroid carcinomas (PTCs). Two substitution mutations, C228T (c.1-124C>T) and C250T (c.1-146C>T), make up most of the mutations and occur in a mutually exclusive manner. (2) Case presentation: A 72-year-old man was initially referred to a tertiary hospital for treatment of esophageal cancer. Preoperative imaging revealed a 3.2 cm thyroid nodule pathologically diagnosed as PTC on needle biopsy. The patient underwent thyroid lobectomy with esophagectomy and was finally diagnosed with synchronous solid variant PTC (SVPTC) and esophageal squamous cell carcinoma. Sanger sequencing using DNA from the thyroid tumor showed an indel mutation, c.1-132_1-124delinsT, composed of a deletion (c.1-132_1-125del) as well as a hotspot mutation (c.1-124C>T(C228T)) in the TERT promoter. (3) Conclusions: This is the first report of PTC harboring a novel deletion along with a hotspot mutation in the TERT promoter in a patient with synchronous esophageal squamous cell carcinoma.

Highlights

telomerase reverse transcriptase (TERT) Promoter in Solid Variant Pap-Papillary thyroid carcinoma (PTC) is the most common histologic type of thyroid cancer, and overall indolent tumor, with a cancer-specific mortality rate less than 5% [1].the prognosis is significantly affected by disease stage, tumor size, extrathyroidal extension, and distant metastases
(3) Conclusions: This is the first report of PTC harboring a novel deletion along with a hotspot mutation in the TERT promoter in a patient with synchronous esophageal squamous cell carcinoma
Telomerase activity is determined by TERT expression, which is predominantly controlled at transcription levels, and the TERT promoter is considered to be the most important regulatory element [5]

Summary

Introduction

Papillary thyroid carcinoma (PTC) is the most common histologic type of thyroid cancer, and overall indolent tumor, with a cancer-specific mortality rate less than 5% [1]. Solid variant PTC (SVPTC) is rare, comprising about 3% of the total PTC [8] It has a less favorable prognosis than the classic papillary type; it is much better than illary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer. We first report the co-occurrence of a novel deletion and hotspot mutation in the TERT promoter in solid variant PTC found in a patient with synchronous primary esophageal cancer. 1.4 granted cm lightpermission yellowish for this case report to be published on condition that no patient-identifiable data A distinctive 1.5 × 1.4 cm light yellowish to white homogeneous solid portion with partial cystic changes and smooth borders was found within the tan to brown mass (Figure 1C).

Histological

Findings

Discussion