Polyclonal origin of medullary carcinoma of the thyroid in multiple endocrine neoplasia type 2 |
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Authors: | A M Ferraris Rosa Mangerini Gian Franco Gaetani Cristina Romei Aldo Pinchera Furio Pacini |
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Institution: | (1) Division of Hematological Oncology, Dipartimento di Oncologia Clinica e Sperimentale, University of Genoa and Istituto Nazionale per la Ricerca sul Cancro, Lazgo Rosanna Benzi, 10, I-16132 Genoa, Italy Tel.: +39-10-5600933; Fax: +39-10-509052, IT;(2) Istituto di Endocrinologia, University of Pisa, I-56018 Tirrenia, Pisa, Italy, IT |
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Abstract: | Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome characterized by medullary thyroid
carcinoma (MTC) and other tumors. Since MTC can also occur in a sporadic form and as familial medullary thyroid carcinoma,
this neoplasm offers a unique opportunity to investigate the difference of origin, if any, between the sporadic and the hereditary
forms of a tumor. While sporadic malignancies have usually been found to result from a mutational event occurring at the single-cell
level and are therefore monoclonal, studies on hereditary neoplasms have been scarce and often produced conflicting results.
In order to determine the clonal origin of sporadic MTCs and of those occurring in MEN 2 syndromes we used a clonality assay
based on a polymorphic trinucleotide repeat of the X-linked human androgen-receptor gene. We found that 10 out of 11 MTCs
expressed a polyclonal pattern of X inactivation, including a significant percentage of the cases clinically defined as sporadic.
Received: 21 May 1996 / Revised: 14 August 1996 |
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