Researchers at Seoul National University Hospital and Macrogen have discovered a clue in diagnosing undifferentiated thyroid cancer with poor prognosis at an early stage.
Although undifferentiated thyroid cancer has a bad reputation as an almost untreatable
|Professor Park Young-joo|
cancer, if treated at an early stage, the disease has a five-year survival rate of over 80 percent. Poor prognosis and diagnosis of the disease at a later stage can drop such survival rate to 14 percent.
The team, led by Professors Seo Jeong-sun and Park Young-joo at the hospital, has identified several biomarkers that can predict the progression of undifferentiated thyroid carcinoma by conducting a next-generation sequencing analysis on the DNA of 113 and RNA of 25 undifferentiated thyroid cancer patients.
The researchers found that mutations in the cancer-suppressing genes (TP53 and CDKN2A) in thyroid cancer cells can lead to undifferentiated thyroid cancer and concluded that such biomarkers could help sort out the patients that need early treatment.
The researchers became the first team in the world to find a close link between CDKN2A gene and thyroid cancer prognosis.
The team found that 22 percent of patients with undifferentiated thyroid cancer had CDKN2A gene deletion. The lack of the gene decreases the expression of p16 protein, which, in turn, delivers a poor prognosis and reduces the survival rate after treatment.
Also, the researchers confirmed that telomerase reverse transcriptase mutations and the carcinogenic genes (AKT1, PIK3CA, EIF1AX) mutations are also early diagnostic biomarkers that can predict undifferentiated and well-differentiated thyroid cancer.
The study also confirmed the activation of the JAK-STAT signaling pathway in some undifferentiated thyroid carcinoma tissues and that blocking this signaling pathway can reduce the proliferation of undifferentiated thyroid cancer.
“Undifferentiated thyroid cancer is hard to treat unless discovered early,” Professor Park said. “The results of this study, which identified biomarkers that are expected to benefit from multiple targeted therapies, are an important achievement that opens the possibility of early diagnosis and tailor-made treatment for patients with undifferentiated thyroid cancer.”
Nature Communications published the result of the study.
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