Seventeen-year-long follow-up of a family affected by type 2A multiple endocrine neoplasia (MEN 2A)
This paper reports the results of a 17-year-long follow-up covering 17 members of a family affected by multiple endocrine neoplasia (MEN) type 2A, first diagnosed in 1980. This family is enrolled in our screening program. The thyroid, parathyroid and adrenal glands of the family members were investi...
Gespeichert in:
| Veröffentlicht in: | Journal of endocrinological investigation 1998-02, Vol.21 (2), p.87-92 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 92 |
|---|---|
| container_issue | 2 |
| container_start_page | 87 |
| container_title | Journal of endocrinological investigation |
| container_volume | 21 |
| creator | LIBROIA, A VERGA, U VECCHI, G BANFI, F ZURLENI, F QUADRO, L SCURINI, C FATTORUSO, O COLANTUONI, V |
| description | This paper reports the results of a 17-year-long follow-up covering 17 members of a family affected by multiple endocrine neoplasia (MEN) type 2A, first diagnosed in 1980. This family is enrolled in our screening program. The thyroid, parathyroid and adrenal glands of the family members were investigated using the most sophisticated and sensitive techniques which have become available during this period, and their DNA was genetically tested for detecting RET mutations. Thanks to the combination of these two approaches it was possible to confirm the diagnosis in the members concerned from the genetic point of view, and to achieve an early diagnosis in the young members of the last generation before the clinical onset of the disease. The detection of a RET mutation also prompted a prophylactic thyroidectomy in a four year-old boy, in a pre-tumoral stage of the disease. Lastly, evidence is provided that genetic analysis of the DNA of the chorionic villi can be carried out as a prenatal test during routine amniocentesis. |
| doi_str_mv | 10.1007/BF03350320 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_79865167</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>79865167</sourcerecordid><originalsourceid>FETCH-LOGICAL-c311t-27ace2ec4e33c2637ec5479775177504e6efdc99fbb1d7af092b412f886d25973</originalsourceid><addsrcrecordid>eNpFkM9LwzAYhoMoc04v3oUcRFSI5kfbNMc5NhWmHtRzSdMvUkmb2rRK_3s7NvTw8R7eh5ePB6FTRm8YpfL2bkWFiKngdA9NmeSUpCJN9tGUCsVIRJU8REchfFIqpEjlBE1UnMYiZVNkXuEb6g6gJgPoljhff2DrnfM_pG-wt1hjq6vSDVhbC6aDAucD7oYGMJ_jqndd2TjAUBfetGUNuAbfOB1KjS-fls8jdHWMDqx2AU52OUPvq-Xb4oGsX-4fF_M1MYKxjnCpDXAwEQhheCIkmDiSSsqYjUcjSMAWRimb56yQ2lLF84hxm6ZJwWMlxQxdbHeb1n_1ELqsKoMB5_T4Ux8yqdIkZskGvN6CpvUhtGCzpi0r3Q4Zo9nGaPZvdITPdqt9XkHxh-4Ujv35rtfBaGdbXZsy_GGcs0gJIX4BShR7lA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>79865167</pqid></control><display><type>article</type><title>Seventeen-year-long follow-up of a family affected by type 2A multiple endocrine neoplasia (MEN 2A)</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>LIBROIA, A ; VERGA, U ; VECCHI, G ; BANFI, F ; ZURLENI, F ; QUADRO, L ; SCURINI, C ; FATTORUSO, O ; COLANTUONI, V</creator><creatorcontrib>LIBROIA, A ; VERGA, U ; VECCHI, G ; BANFI, F ; ZURLENI, F ; QUADRO, L ; SCURINI, C ; FATTORUSO, O ; COLANTUONI, V</creatorcontrib><description>This paper reports the results of a 17-year-long follow-up covering 17 members of a family affected by multiple endocrine neoplasia (MEN) type 2A, first diagnosed in 1980. This family is enrolled in our screening program. The thyroid, parathyroid and adrenal glands of the family members were investigated using the most sophisticated and sensitive techniques which have become available during this period, and their DNA was genetically tested for detecting RET mutations. Thanks to the combination of these two approaches it was possible to confirm the diagnosis in the members concerned from the genetic point of view, and to achieve an early diagnosis in the young members of the last generation before the clinical onset of the disease. The detection of a RET mutation also prompted a prophylactic thyroidectomy in a four year-old boy, in a pre-tumoral stage of the disease. Lastly, evidence is provided that genetic analysis of the DNA of the chorionic villi can be carried out as a prenatal test during routine amniocentesis.</description><identifier>ISSN: 0391-4097</identifier><identifier>EISSN: 1720-8386</identifier><identifier>DOI: 10.1007/BF03350320</identifier><identifier>PMID: 9585381</identifier><identifier>CODEN: JEIND7</identifier><language>eng</language><publisher>Milano: Kurtis</publisher><subject>Adolescent ; Adrenal Glands - physiopathology ; Adult ; Biological and medical sciences ; Calcitonin - blood ; Carcinoma, Medullary - surgery ; Child, Preschool ; Complex syndromes ; DNA - analysis ; Drosophila Proteins ; Female ; Follow-Up Studies ; Humans ; Male ; Medical genetics ; Medical sciences ; Multiple Endocrine Neoplasia Type 2a - diagnosis ; Multiple Endocrine Neoplasia Type 2a - genetics ; Multiple Endocrine Neoplasia Type 2a - physiopathology ; Mutation ; Parathyroid Glands - physiopathology ; Pedigree ; Prenatal Diagnosis ; Proto-Oncogene Proteins - genetics ; Proto-Oncogene Proteins c-ret ; Receptor Protein-Tyrosine Kinases - genetics ; Thyroid Gland - physiopathology ; Thyroid Neoplasms - surgery ; Thyroidectomy</subject><ispartof>Journal of endocrinological investigation, 1998-02, Vol.21 (2), p.87-92</ispartof><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c311t-27ace2ec4e33c2637ec5479775177504e6efdc99fbb1d7af092b412f886d25973</citedby><cites>FETCH-LOGICAL-c311t-27ace2ec4e33c2637ec5479775177504e6efdc99fbb1d7af092b412f886d25973</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27915,27916</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2214933$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9585381$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>LIBROIA, A</creatorcontrib><creatorcontrib>VERGA, U</creatorcontrib><creatorcontrib>VECCHI, G</creatorcontrib><creatorcontrib>BANFI, F</creatorcontrib><creatorcontrib>ZURLENI, F</creatorcontrib><creatorcontrib>QUADRO, L</creatorcontrib><creatorcontrib>SCURINI, C</creatorcontrib><creatorcontrib>FATTORUSO, O</creatorcontrib><creatorcontrib>COLANTUONI, V</creatorcontrib><title>Seventeen-year-long follow-up of a family affected by type 2A multiple endocrine neoplasia (MEN 2A)</title><title>Journal of endocrinological investigation</title><addtitle>J Endocrinol Invest</addtitle><description>This paper reports the results of a 17-year-long follow-up covering 17 members of a family affected by multiple endocrine neoplasia (MEN) type 2A, first diagnosed in 1980. This family is enrolled in our screening program. The thyroid, parathyroid and adrenal glands of the family members were investigated using the most sophisticated and sensitive techniques which have become available during this period, and their DNA was genetically tested for detecting RET mutations. Thanks to the combination of these two approaches it was possible to confirm the diagnosis in the members concerned from the genetic point of view, and to achieve an early diagnosis in the young members of the last generation before the clinical onset of the disease. The detection of a RET mutation also prompted a prophylactic thyroidectomy in a four year-old boy, in a pre-tumoral stage of the disease. Lastly, evidence is provided that genetic analysis of the DNA of the chorionic villi can be carried out as a prenatal test during routine amniocentesis.</description><subject>Adolescent</subject><subject>Adrenal Glands - physiopathology</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Calcitonin - blood</subject><subject>Carcinoma, Medullary - surgery</subject><subject>Child, Preschool</subject><subject>Complex syndromes</subject><subject>DNA - analysis</subject><subject>Drosophila Proteins</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Multiple Endocrine Neoplasia Type 2a - diagnosis</subject><subject>Multiple Endocrine Neoplasia Type 2a - genetics</subject><subject>Multiple Endocrine Neoplasia Type 2a - physiopathology</subject><subject>Mutation</subject><subject>Parathyroid Glands - physiopathology</subject><subject>Pedigree</subject><subject>Prenatal Diagnosis</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Proto-Oncogene Proteins c-ret</subject><subject>Receptor Protein-Tyrosine Kinases - genetics</subject><subject>Thyroid Gland - physiopathology</subject><subject>Thyroid Neoplasms - surgery</subject><subject>Thyroidectomy</subject><issn>0391-4097</issn><issn>1720-8386</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkM9LwzAYhoMoc04v3oUcRFSI5kfbNMc5NhWmHtRzSdMvUkmb2rRK_3s7NvTw8R7eh5ePB6FTRm8YpfL2bkWFiKngdA9NmeSUpCJN9tGUCsVIRJU8REchfFIqpEjlBE1UnMYiZVNkXuEb6g6gJgPoljhff2DrnfM_pG-wt1hjq6vSDVhbC6aDAucD7oYGMJ_jqndd2TjAUBfetGUNuAbfOB1KjS-fls8jdHWMDqx2AU52OUPvq-Xb4oGsX-4fF_M1MYKxjnCpDXAwEQhheCIkmDiSSsqYjUcjSMAWRimb56yQ2lLF84hxm6ZJwWMlxQxdbHeb1n_1ELqsKoMB5_T4Ux8yqdIkZskGvN6CpvUhtGCzpi0r3Q4Zo9nGaPZvdITPdqt9XkHxh-4Ujv35rtfBaGdbXZsy_GGcs0gJIX4BShR7lA</recordid><startdate>19980201</startdate><enddate>19980201</enddate><creator>LIBROIA, A</creator><creator>VERGA, U</creator><creator>VECCHI, G</creator><creator>BANFI, F</creator><creator>ZURLENI, F</creator><creator>QUADRO, L</creator><creator>SCURINI, C</creator><creator>FATTORUSO, O</creator><creator>COLANTUONI, V</creator><general>Kurtis</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19980201</creationdate><title>Seventeen-year-long follow-up of a family affected by type 2A multiple endocrine neoplasia (MEN 2A)</title><author>LIBROIA, A ; VERGA, U ; VECCHI, G ; BANFI, F ; ZURLENI, F ; QUADRO, L ; SCURINI, C ; FATTORUSO, O ; COLANTUONI, V</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c311t-27ace2ec4e33c2637ec5479775177504e6efdc99fbb1d7af092b412f886d25973</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adolescent</topic><topic>Adrenal Glands - physiopathology</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Calcitonin - blood</topic><topic>Carcinoma, Medullary - surgery</topic><topic>Child, Preschool</topic><topic>Complex syndromes</topic><topic>DNA - analysis</topic><topic>Drosophila Proteins</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Multiple Endocrine Neoplasia Type 2a - diagnosis</topic><topic>Multiple Endocrine Neoplasia Type 2a - genetics</topic><topic>Multiple Endocrine Neoplasia Type 2a - physiopathology</topic><topic>Mutation</topic><topic>Parathyroid Glands - physiopathology</topic><topic>Pedigree</topic><topic>Prenatal Diagnosis</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Proto-Oncogene Proteins c-ret</topic><topic>Receptor Protein-Tyrosine Kinases - genetics</topic><topic>Thyroid Gland - physiopathology</topic><topic>Thyroid Neoplasms - surgery</topic><topic>Thyroidectomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>LIBROIA, A</creatorcontrib><creatorcontrib>VERGA, U</creatorcontrib><creatorcontrib>VECCHI, G</creatorcontrib><creatorcontrib>BANFI, F</creatorcontrib><creatorcontrib>ZURLENI, F</creatorcontrib><creatorcontrib>QUADRO, L</creatorcontrib><creatorcontrib>SCURINI, C</creatorcontrib><creatorcontrib>FATTORUSO, O</creatorcontrib><creatorcontrib>COLANTUONI, V</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>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of endocrinological investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>LIBROIA, A</au><au>VERGA, U</au><au>VECCHI, G</au><au>BANFI, F</au><au>ZURLENI, F</au><au>QUADRO, L</au><au>SCURINI, C</au><au>FATTORUSO, O</au><au>COLANTUONI, V</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Seventeen-year-long follow-up of a family affected by type 2A multiple endocrine neoplasia (MEN 2A)</atitle><jtitle>Journal of endocrinological investigation</jtitle><addtitle>J Endocrinol Invest</addtitle><date>1998-02-01</date><risdate>1998</risdate><volume>21</volume><issue>2</issue><spage>87</spage><epage>92</epage><pages>87-92</pages><issn>0391-4097</issn><eissn>1720-8386</eissn><coden>JEIND7</coden><abstract>This paper reports the results of a 17-year-long follow-up covering 17 members of a family affected by multiple endocrine neoplasia (MEN) type 2A, first diagnosed in 1980. This family is enrolled in our screening program. The thyroid, parathyroid and adrenal glands of the family members were investigated using the most sophisticated and sensitive techniques which have become available during this period, and their DNA was genetically tested for detecting RET mutations. Thanks to the combination of these two approaches it was possible to confirm the diagnosis in the members concerned from the genetic point of view, and to achieve an early diagnosis in the young members of the last generation before the clinical onset of the disease. The detection of a RET mutation also prompted a prophylactic thyroidectomy in a four year-old boy, in a pre-tumoral stage of the disease. Lastly, evidence is provided that genetic analysis of the DNA of the chorionic villi can be carried out as a prenatal test during routine amniocentesis.</abstract><cop>Milano</cop><pub>Kurtis</pub><pmid>9585381</pmid><doi>10.1007/BF03350320</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0391-4097 |
| ispartof | Journal of endocrinological investigation, 1998-02, Vol.21 (2), p.87-92 |
| issn | 0391-4097 1720-8386 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79865167 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adolescent Adrenal Glands - physiopathology Adult Biological and medical sciences Calcitonin - blood Carcinoma, Medullary - surgery Child, Preschool Complex syndromes DNA - analysis Drosophila Proteins Female Follow-Up Studies Humans Male Medical genetics Medical sciences Multiple Endocrine Neoplasia Type 2a - diagnosis Multiple Endocrine Neoplasia Type 2a - genetics Multiple Endocrine Neoplasia Type 2a - physiopathology Mutation Parathyroid Glands - physiopathology Pedigree Prenatal Diagnosis Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins c-ret Receptor Protein-Tyrosine Kinases - genetics Thyroid Gland - physiopathology Thyroid Neoplasms - surgery Thyroidectomy |
| title | Seventeen-year-long follow-up of a family affected by type 2A multiple endocrine neoplasia (MEN 2A) |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-15T01%3A33%3A49IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Seventeen-year-long%20follow-up%20of%20a%20family%20affected%20by%20type%202A%20multiple%20endocrine%20neoplasia%20(MEN%202A)&rft.jtitle=Journal%20of%20endocrinological%20investigation&rft.au=LIBROIA,%20A&rft.date=1998-02-01&rft.volume=21&rft.issue=2&rft.spage=87&rft.epage=92&rft.pages=87-92&rft.issn=0391-4097&rft.eissn=1720-8386&rft.coden=JEIND7&rft_id=info:doi/10.1007/BF03350320&rft_dat=%3Cproquest_cross%3E79865167%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=79865167&rft_id=info:pmid/9585381&rfr_iscdi=true |