Published in Cancer Detection and Prevention 1998; 22(6):544-548.

A Rapid Method for DNA Extraction from Fine-Needle Aspiration Biopsies of Thyroid Tumors, and Subsequent RET Mutation Analysis

Jan Zedenius, M.D. Ph.D.,a,b,c Trisha Dwight, B.S.,d Bruce G. Robinson, M.D.,d Leigh Delbridge, M.D.,c Martin Bäckdahl, M.D., Ph.D.,a Göran Wallin, M.D., Ph.D.,a Catharina Larsson, M.D. Ph.D.,b Günther Weber, Ph.D.b

aDepartments of Surgery; bMolecular Medicine, Karolinska Hospital, Stockholm, Sweden; cDepartment of Surgery; dMolecular Genetics Unit, Kolling Institute of Medical Research, University of Sydney, Royal North Shore Hospital, St. Leonards, NSW, Australia.

Address all correspondence and reprint requests to: Jan Zedenius, M.D., Department of Surgery, Karolinska Hospital, S-171 76, Stockholm, Sweden. Telephone: ±46-8-5 1770000 Fax: +46-8-331587 E-mail:

ABSTRACT: The presence of germline and somatic mutations in the RET proto-oncogene (RET) in patients with hereditary and sporadic medullary thyroid carcinoma (MTC) may have important ramifications for patient management. It has been suggested that the presence of the mutation ATG-->ACG at codon 918 in sporadic MTC is associated with a worse prognosis, and hence the need for more aggressive surgical, or other, treatment. Since fine needle aspiration biopsy (FNAB) is an important component of the pre-operative management of patients with thyroid tumors, we developed a rapid (20 minutes) method which enables extraction of DNA from FNABs for RET mutation analysis. The method allows pre-operative genetic analysis to aid in management of patients with MTC, and may be applied to other tumor types where a preoperative mutation analysis based on PCR amplification is desired.

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