Establishment and Characterization of a Continuous Cell Line from a Human Familial Medullary Thyroid Carcinoma Abstract #1579

Introduction: introduction missing
Aim(s): We report the establishment of a new continuous cell line “SCHWE” from tissue that was obtained from the primary tumor of a 50 year-old male with familial medullary thyroid carcinoma (FMTC). We used isolated DNA from the tumor as well as from peripheral blood to screen for specific sequence variants in the RET proto-oncogene. We found a previously known causative mutation in exon 13, codon 781 (CAG>CGG) and also a well-known disease-irrelevant heterozygous single nucleotide polymorphism in codon 769 (CTT>CTG). CytoScan HD SNP-array (Affymetrix®) analysis revealed a widespread homozygosity as well as complex copy number abnormalities with an extraordinary multiplication of chromosome 20. Owing to an apparent ploidy increase together with variable mosaic levels made a clear-cut delineation and exact enumeration of distinct abnormalities extremely difficult. However, the combined deletion/and copy neutral homozygosity pattern of the 10q region, which contains the RET gene, suggested that one allele was lost before the other one got duplicated. Molecular genetic analysis revealed a pure wild-type pattern and therefore the loss of the two apparently linked sequence variants originally present in the tumor.
Materials and methods: materials missing
Conference: 13th Annual ENETS conference 2016 (2016)
Category: ...none of the above
Presenting Author: Roswitha Pfragner

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