Analysis of ret/PTC gene rearrangements refines the fine needle aspiration diagnosis of thyroid cancer

Papillary carcinoma (PC) represents the most common malignancy of the thyroid gland. Therefore, the assessment of fine needle aspiration biopsies of thyroid nodules rests heavily on the identification of nuclear features of PC. The ret/PTC oncogene, formed by several gene rearrangements, is specific...

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Veröffentlicht in:The journal of clinical endocrinology and metabolism 2001-05, Vol.86 (5), p.2187-2190
Hauptverfasser: CHEUNG, Carol C, CARYDIS, Bessie, EZZAT, Shereen, BEDARD, Yvan C, ASA, Sylvia L
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container_title The journal of clinical endocrinology and metabolism
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creator CHEUNG, Carol C
CARYDIS, Bessie
EZZAT, Shereen
BEDARD, Yvan C
ASA, Sylvia L
description Papillary carcinoma (PC) represents the most common malignancy of the thyroid gland. Therefore, the assessment of fine needle aspiration biopsies of thyroid nodules rests heavily on the identification of nuclear features of PC. The ret/PTC oncogene, formed by several gene rearrangements, is specific for PC among thyroid tumors. In this study we examined thyroid aspirates for the presence of ret/PTC gene rearrangements by RT-PCR and Southern hybridization. We prospectively collected thyroid aspirates in Cytolyt solution and prepared slides for cytological examination using the ThinPrep method. All remaining material was then used for nucleic acid extraction with subsequent RT-PCR for the housekeeping gene PGK-1 to ensure ribonucleic acid integrity, for thyroglobulin to ensure the presence of follicular epithelial cells, and for the three most common ret/PTC gene rearrangements (ret/PTC-1, -2, and -3). The results of the first 73 cases with surgical follow-up were correlated with the cytological diagnosis and final histopathology. ret/PTC gene rearrangements were detected in 17 of 33 samples (52%) that were PC on histopathology; the presence of gene rearrangements was confirmed by molecular analysis of corresponding surgically resected frozen tissue. There were no false positives. The identification of ret/PTC gene rearrangements refined the diagnosis of PC in 9 of 15 specimens (60%) that would otherwise have been considered indeterminate and in 2 of 6 that were considered insufficient for cytological diagnosis. The results indicate that RT-PCR for ret/PTC is a specific marker that can be applied to fine needle aspiration biopsies and improves the diagnosis of malignancy when used as an adjunct to traditional cytology.
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Therefore, the assessment of fine needle aspiration biopsies of thyroid nodules rests heavily on the identification of nuclear features of PC. The ret/PTC oncogene, formed by several gene rearrangements, is specific for PC among thyroid tumors. In this study we examined thyroid aspirates for the presence of ret/PTC gene rearrangements by RT-PCR and Southern hybridization. We prospectively collected thyroid aspirates in Cytolyt solution and prepared slides for cytological examination using the ThinPrep method. All remaining material was then used for nucleic acid extraction with subsequent RT-PCR for the housekeeping gene PGK-1 to ensure ribonucleic acid integrity, for thyroglobulin to ensure the presence of follicular epithelial cells, and for the three most common ret/PTC gene rearrangements (ret/PTC-1, -2, and -3). The results of the first 73 cases with surgical follow-up were correlated with the cytological diagnosis and final histopathology. ret/PTC gene rearrangements were detected in 17 of 33 samples (52%) that were PC on histopathology; the presence of gene rearrangements was confirmed by molecular analysis of corresponding surgically resected frozen tissue. There were no false positives. The identification of ret/PTC gene rearrangements refined the diagnosis of PC in 9 of 15 specimens (60%) that would otherwise have been considered indeterminate and in 2 of 6 that were considered insufficient for cytological diagnosis. 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Therefore, the assessment of fine needle aspiration biopsies of thyroid nodules rests heavily on the identification of nuclear features of PC. The ret/PTC oncogene, formed by several gene rearrangements, is specific for PC among thyroid tumors. In this study we examined thyroid aspirates for the presence of ret/PTC gene rearrangements by RT-PCR and Southern hybridization. We prospectively collected thyroid aspirates in Cytolyt solution and prepared slides for cytological examination using the ThinPrep method. All remaining material was then used for nucleic acid extraction with subsequent RT-PCR for the housekeeping gene PGK-1 to ensure ribonucleic acid integrity, for thyroglobulin to ensure the presence of follicular epithelial cells, and for the three most common ret/PTC gene rearrangements (ret/PTC-1, -2, and -3). 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Thyroid axis (diseases)</topic><topic>Transcription Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>CHEUNG, Carol C</creatorcontrib><creatorcontrib>CARYDIS, Bessie</creatorcontrib><creatorcontrib>EZZAT, Shereen</creatorcontrib><creatorcontrib>BEDARD, Yvan C</creatorcontrib><creatorcontrib>ASA, Sylvia L</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>The journal of clinical endocrinology and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>CHEUNG, Carol C</au><au>CARYDIS, Bessie</au><au>EZZAT, Shereen</au><au>BEDARD, Yvan C</au><au>ASA, Sylvia L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of ret/PTC gene rearrangements refines the fine needle aspiration diagnosis of thyroid cancer</atitle><jtitle>The journal of clinical endocrinology and metabolism</jtitle><addtitle>J Clin Endocrinol Metab</addtitle><date>2001-05-01</date><risdate>2001</risdate><volume>86</volume><issue>5</issue><spage>2187</spage><epage>2190</epage><pages>2187-2190</pages><issn>0021-972X</issn><eissn>1945-7197</eissn><coden>JCEMAZ</coden><abstract>Papillary carcinoma (PC) represents the most common malignancy of the thyroid gland. 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source MEDLINE; Oxford University Press Journals All Titles (1996-Current); EZB-FREE-00999 freely available EZB journals
subjects Biological and medical sciences
Biopsy, Needle
Endocrinopathies
Gene Rearrangement
Humans
Malignant tumors
Medical sciences
Nuclear Receptor Coactivators
Oncogene Proteins - genetics
Oncogene Proteins, Fusion - genetics
Prospective Studies
Protein-Tyrosine Kinases
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases - genetics
Reverse Transcriptase Polymerase Chain Reaction
Thyroid Neoplasms - genetics
Thyroid Neoplasms - pathology
Thyroid. Thyroid axis (diseases)
Transcription Factors
title Analysis of ret/PTC gene rearrangements refines the fine needle aspiration diagnosis of thyroid cancer
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