It is possible to analyze different genetic changes in medullary thyroid carcinoma (MTC) with liquid biopsy, according to a new study published in Pathobiology. These changes may have predictive implications and could potentially be used as prognostic factors.

In the present study, a team of researchers from Spain led by David Parada, MD, PhD, from Institut d’Investigació Sanitària Pere Virgili, Facultat de Medicina i Ciències de la Salut, Universitat Rovira i Virgili and the Pathology Molecular Unit, Department of Pathology, Hospital Universitari de Sant Joan in Reus, Spain reported the case of a patient with advanced unresectable MTC with various RET and KRAS mutations. 

Read more about the etiology of MTC

Continue Reading

The patient was treated with tyrosine kinase inhibitors, but did not respond to treatment.

Next-generation sequencing of a liquid biopsy revealed 6 different RET mutations and 1 KRAS mutation. Tissue biopsy also showed 2 RET mutations. 

Based on these biopsy findings, the patient’s treatment was changed to another tyrosine kinase inhibitor. The authors reported that the patient is now clinically stable.

Liquid biopsy is a new method of studying circulating tumor DNA. It involves testing a sample of blood, urine, or other body fluid for DNA, RNA, and other molecules released by tumor cells into the fluids. Its advantages include the abilities to take repeat samples over time to see any changes in a tumor, identify cancer at an early stage, and monitor how the cancer is responding to treatment.

MTC is a rare form of neuroendocrine tumor found in the thyroid gland stemming from the parafollicular or C cells. MTC is the third most common type of thyroid cancer after papillary and follicular thyroid carcinoma, and it accounts for 2% to 4% of all thyroid cancer cases. MTC is usually sporadic, but in around 25% of cases, it has a hereditary origin. 


Gumà J, Peña KB, Riu F, et al. Blood liquid biopsy in an advanced medullary thyroid carcinoma: a case study with rearranged during transfection heterogeneity. Pathobiology. Published online February 2, 2023. doi:10.1159/000527184