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Thyroid Tumors

According to a study by the Schilddrüsen-Initiative Papillon (www.schilddruese.de) every third person in Germany shows abnormal alterations of the thyroid (enlarged thyroid and/or nodes).
Research at the Center of Human Genetics is aimed at elucidating the genetical cause of such thyroid tumors/abnormal alterations. Since 1989 continuous examinations on thyroid tissues have been done on meanwhile over 600 lesions (including benign as well as malignant tumors) resulting in a cytogenetic classification. It was found that about 20% of all thyroid lesions show cytogenetic (chromosomal) aberrations. Among those, different cytogenetic subgroups (chromosomal aberrations found independently in at least two tumors) were established, the most common comprising trisomy 7 as well as structural aberrations (translocations) of chromosomes 2 and 19 (Belge et al., Cancer Genet. Cytogenet. 1992, 60: 23-26; Belge et al., Genes Chromosomes Cancer 1996, 16: 149-151).

Molecular genetic research focusses on the description of the genes affected by these aberrations, predominantly those in chromosomal regions 19q13.4 and 2p21.

2003 a gene affected by the translocation including chromosomal region 2p21 was described by us which was named Thyroid Adenoma Associated (THADA) (Rippe et al., Oncogene 2003, 22: 6111-6114). As a result of the translocation this gene is rearranged resulting in a truncation of the protein THADA is encoding. By this connection of THADA rearrangements and benign thyroid lesions the way is opened for new insights into the origin of thyroid tumors as well as diagnostical approaches for differentiating benign from malignant lesions of the thyroid.

Schematic description of THADA (Fig. N. Drieschner)

THADA