Understanding Genetic Mutations of Aggressive Papillary Carcinomas
Posted: Monday, April 26, 2021
Won Gu Kim, MD, PhD, of the University of Ulsan College of Medicine, Seoul, Korea, and colleagues performed targeted next-generation sequencing in tissue samples from patients with aggressive variants of papillary thyroid carcinoma to provide insight on their clinical outcomes. These researchers discovered that these aggressive variants seemed to have a higher prevalence of BRAF mutations and a lower prevalence of RAS mutations than other types of thyroid cancer. Their findings were published in the journal Cancers.
The investigators obtained 36 tissue samples from patients with aggressive variants of papillary thyroid carcinoma. All individuals underwent thyroid surgery and were diagnosed with either tall cell variant or columnar cell variant. Genetic profiles were compared with data from those with papillary thyroid carcinoma and patients with poorly differentiated and anaplastic thyroid carcinomas.
Tall cell variant and columnar cell variant thyroid cancers affected 25 and 11 patients, respectively. Almost all individuals (94.4%) underwent total thyroidectomy, whereas half of the population underwent modified radical neck dissection.
A BRAF mutation was present in 89% of patients with tall cell or columnar cell variants—a notably higher prevalence than papillary (59%), anaplastic (46%), and poorly differentiated (33%) thyroid carcinomas. Mutations of the TERT promoter affected 17% of patients with aggressive variants, 73% with anaplastic thyroid carcinoma, 60% with advanced papillary thyroid carcinoma, and 40% with poorly differentiated carcinoma; just 9% with papillary thyroid carcinoma were so affected.
Tumor suppressor genes ZFHX3, TP53, and CHEK2 were mutated in 14%, 3%, and 6% of aggressive variants, respectively. The prevalence of TP53 mutations in variants was lower than that of poorly differentiated (8%), advanced papillary (10%), and anaplastic (10%) thyroid carcinomas but higher than in papillary thyroid carcinoma.
Disclosure: The study authors reported no conflicts of interest.