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

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.

Synchronous occurrence of papillary thyroid carcinoma and early esophageal squamous cell carcinoma in a 45-year-old female: a case report and review of the literature

“…However, TERT promoter mutation incidence in solid variant PTC can be underestimated due to the rarity of these tumors and the genetic variability. Additionally, associated alterations among subvariants of PTC were limited to study [ 4 ]. Recent studies have shown a slightly higher prevalence of TERT promoter mutations in solid variant PTC than that in conventional PTC but significantly lower than that of tall cell variant PTC [ 4 , 9 , 10 ].…”

“…Additionally, associated alterations among subvariants of PTC were limited to study [ 4 ]. Recent studies have shown a slightly higher prevalence of TERT promoter mutations in solid variant PTC than that in conventional PTC but significantly lower than that of tall cell variant PTC [ 4 , 9 , 10 ]. We did not perform any mutational analysis due to the non-availability of these tests in our country and the patient's low socioeconomic status.…”

“…None of each was reported in our patient. Although endoscopic US provides a highly sensitive to diagnose esophageal SCC, conventional US has minimal utility; in addition, CT scan can be helpful in diagnosing occult metastasis [ 3 , 4 , 15 ]. In our case, an esophageal mass was incidentally discovered intraoperatively and resected.…”

“…Occasionally, patients can have a metastatic SCC while completely asymptomatic [ 2 ]. There are sparse reports of PTC and esophageal SCC coexistence in the literature [ 3 , 4 ]. We herein report a case of a 45-year-old female patient diagnosed with PTC and esophageal SCC confirmed histopathologically; furthermore, we reviewed the literature on the clinical evaluation management of similar cases.…”