TY - JOUR
T1 - Medullary thyroid cancer: RET testing of an archival material
AU - Godballe, Christian
AU - Jørgensen, Gita
AU - Gerdes, Anne-Marie Axø
AU - Krogdahl, Annelise S
AU - Tybjaerg-Hansen, Anne
AU - Nielsen, Finn C
PY - 2010/4/1
Y1 - 2010/4/1
N2 - Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
AB - Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
U2 - 10.1007/s00405-009-1115-4
DO - 10.1007/s00405-009-1115-4
M3 - Journal article
SN - 0942-8992
VL - 267
SP - 613
EP - 617
JO - Archiv fur klinische und experimentelle Ohren- Nasen- und Kehlkopfheilkunde
JF - Archiv fur klinische und experimentelle Ohren- Nasen- und Kehlkopfheilkunde
IS - 4
ER -
