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Estimation of Risk of Inherited Medullary Thyroid Carcinoma in Apparent Sporadic Patients by M. Wiench; Z. Wygoda; E. Gubala; J. Wloch; K. Lisowska; J. Krassowski; D. Scieglinska; A. Fiszer-Kierzkowska; D. Lange; D. Kula; M. Zeman; J. Roskosz; A. Kukulska; Z. Krawczyk; B. Jarzab is a Medicine article available to read on EtoBox.
What is Estimation of Risk of Inherited Medullary Thyroid Carcinoma in Apparent Sporadic Patients about?
PURPOSE: The study was undertaken to evaluate the frequency of inherited medullary thyroid carcinoma (MTC) among patients with apparent sporadic disease. A stepwise algorithm was used depending on clinical indices and the age of patient at MTC diagnosis. PATIENTS AND METHODS: One hundred sixteen patients with MTC verified by postoperative pathologic examination were subjected to genetic analysis of RET exons 10, 11, 13, 14, and 16 by means of polymerase chain reaction, restriction endonuclease digestion, and DNA sequencing. RESULTS: Among 116 apparent sporadic MTC patients, we identified eleven (9.5%) RET germline mutation carriers. Seven of these (6.0%) were found by routine analysis (exons 10 and 11). The frequency of inherited disease among patients younger than 45 years at diagnosis was 10.2% by analysis of typical mutations in exons 10 and 11. Extended genetic analysis (sequencing of exons 11, 13, 14, and 16) yielded 6.1% additional diagnoses, giving a risk of 16.3% in this age group. One previously unreported mutation in exon 11 affected codon 649 (TCG>TTG, Ser>Leu). In the true sporadic MTC patients younger than 30 years at diagnosis, frequencies of 36% and 4.5% in polymorph
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- Author
- M. Wiench; Z. Wygoda; E. Gubala; J. Wloch; K. Lisowska; J. Krassowski; D. Scieglinska; A. Fiszer-Kierzkowska; D. Lange; D. Kula; M. Zeman; J. Roskosz; A. Kukulska; Z. Krawczyk; B. Jarzab
- Publisher
- American Society of Clinical Oncology; American Society of Clinical Oncology (ASCO) (ISSN 0732-183X)
- Published
- 2001
- Language
- EN
- Field
- Medicine (Health Sciences)