Detection of BRAFV600E by digital PCR on fine-needle aspirate enables rapid initiation of dabrafenib and trametinib in unresectable anaplastic thyroid carcinoma
Introduction Recently, targeted therapies using BRAFV600E and MEK inhibitors (dabrafenib and trametinib, respectively) have been recommended in BRAF-mutated anaplastic thyroid carcinoma (ATC). Considering the fast development of ATC, droplet digital PCR (ddPCR) performed on fine-needle aspirate (FNA...
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| Veröffentlicht in: | European journal of endocrinology 2022-09, Vol.187 (3), p.K33-K38 |
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| container_title | European journal of endocrinology |
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| creator | Buffet, Camille Allard, Lucie Guillerm, Erell Ghander, Cécile Mathy, Elise Lussey-Lepoutre, Charlotte Julien, Nicolas Touma, Eliane Quilhot, Pauline Godiris-Petit, Gaelle Lacorte, Jean-Marc Leenhardt, Laurence Denis, Jérôme Alexandre |
| description | Introduction Recently, targeted therapies using BRAFV600E and MEK inhibitors (dabrafenib and trametinib, respectively) have been recommended in BRAF-mutated anaplastic thyroid carcinoma (ATC). Considering the fast development of ATC, droplet digital PCR (ddPCR) performed on fine-needle aspirate (FNA), which is a rapid, reliable, and low-cost method, appears interesting for the detection of BRAFV600E mutation in these patients and allows early initiation of targeted therapies. Results In our two patients, both presenting extensive cervical masses inaccessible to surgery, ddPCR results were available in less than 24 h. Therefore, dabrafenib and trametinib were started only a few days after first contact. Conclusions We suggest that ddPCR on FNA be used in non-resectable cervical masses for rapid BRAFV600E mutation detection in the hope that starting targeted therapies early might improve outcomes. |
| doi_str_mv | 10.1530/EJE-22-0366 |
| format | Article |
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Considering the fast development of ATC, droplet digital PCR (ddPCR) performed on fine-needle aspirate (FNA), which is a rapid, reliable, and low-cost method, appears interesting for the detection of BRAFV600E mutation in these patients and allows early initiation of targeted therapies. Results In our two patients, both presenting extensive cervical masses inaccessible to surgery, ddPCR results were available in less than 24 h. Therefore, dabrafenib and trametinib were started only a few days after first contact. Conclusions We suggest that ddPCR on FNA be used in non-resectable cervical masses for rapid BRAFV600E mutation detection in the hope that starting targeted therapies early might improve outcomes.</description><identifier>ISSN: 0804-4643</identifier><identifier>EISSN: 1479-683X</identifier><identifier>DOI: 10.1530/EJE-22-0366</identifier><language>eng</language><publisher>Bristol: Bioscientifica Ltd</publisher><subject>Brief Report ; Cervix ; Life Sciences ; MEK inhibitors ; Mutation ; Patients ; Thyroid carcinoma</subject><ispartof>European journal of endocrinology, 2022-09, Vol.187 (3), p.K33-K38</ispartof><rights>European Society of Endocrinology</rights><rights>Copyright BioScientifica Ltd. Sep 2022</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b2156-8879585fcfadc172ae89db26dfced836f71921517f3ba95e1748e5001c3d7633</citedby><cites>FETCH-LOGICAL-b2156-8879585fcfadc172ae89db26dfced836f71921517f3ba95e1748e5001c3d7633</cites><orcidid>0000-0003-1389-4157 ; 0000-0002-1617-4617 ; 0000-0001-7277-1582</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttps://hal.sorbonne-universite.fr/hal-03970412$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Buffet, Camille</creatorcontrib><creatorcontrib>Allard, Lucie</creatorcontrib><creatorcontrib>Guillerm, Erell</creatorcontrib><creatorcontrib>Ghander, Cécile</creatorcontrib><creatorcontrib>Mathy, Elise</creatorcontrib><creatorcontrib>Lussey-Lepoutre, Charlotte</creatorcontrib><creatorcontrib>Julien, Nicolas</creatorcontrib><creatorcontrib>Touma, Eliane</creatorcontrib><creatorcontrib>Quilhot, Pauline</creatorcontrib><creatorcontrib>Godiris-Petit, Gaelle</creatorcontrib><creatorcontrib>Lacorte, Jean-Marc</creatorcontrib><creatorcontrib>Leenhardt, Laurence</creatorcontrib><creatorcontrib>Denis, Jérôme Alexandre</creatorcontrib><title>Detection of BRAFV600E by digital PCR on fine-needle aspirate enables rapid initiation of dabrafenib and trametinib in unresectable anaplastic thyroid carcinoma</title><title>European journal of endocrinology</title><description>Introduction Recently, targeted therapies using BRAFV600E and MEK inhibitors (dabrafenib and trametinib, respectively) have been recommended in BRAF-mutated anaplastic thyroid carcinoma (ATC). Considering the fast development of ATC, droplet digital PCR (ddPCR) performed on fine-needle aspirate (FNA), which is a rapid, reliable, and low-cost method, appears interesting for the detection of BRAFV600E mutation in these patients and allows early initiation of targeted therapies. Results In our two patients, both presenting extensive cervical masses inaccessible to surgery, ddPCR results were available in less than 24 h. Therefore, dabrafenib and trametinib were started only a few days after first contact. Conclusions We suggest that ddPCR on FNA be used in non-resectable cervical masses for rapid BRAFV600E mutation detection in the hope that starting targeted therapies early might improve outcomes.</description><subject>Brief Report</subject><subject>Cervix</subject><subject>Life Sciences</subject><subject>MEK inhibitors</subject><subject>Mutation</subject><subject>Patients</subject><subject>Thyroid carcinoma</subject><issn>0804-4643</issn><issn>1479-683X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNp9kcGO0zAQhiMEEqVw4gUscQGhgO0kdnIs3e4uqBJotULcrIkzZmeVOsF2kfo2PCqOunDgwMljzzf_eOYvipeCvxNNxd_vPu1KKUteKfWoWIlad6Vqq2-PixVveV3Wqq6eFs9ivOdc5Jivil8XmNAmmjybHPtws7n8qjjfsf7EBvpOCUb2ZXvDctqRx9IjDiMyiDMFSMjQQz9iZAFmGhh5SgR_xAboAzj01DPwA0sBDphouZJnRx8w5sZLeU7DPEJMZFm6O4UpS1kIlvx0gOfFEwdjxBcP57q4vdzdbq_L_eerj9vNvuylaFTZtrpr2sZZB4MVWgK23dBLNTiLQ1spp0WXQaFd1UPXoNB1i01eg60GrapqXbw5y97BaOZABwgnMwGZ683eLG-86jSvhfwpMvv6zM5h-nHEmMyBosVxBI_TMRqpurxD3WXddfHqH_R-OgafBzFSL4wUaqHenikbphgDur8_ENwsxppsrJHSLMZmWpzpnqZoCX0iRxb-W_MbLpKlxA</recordid><startdate>20220901</startdate><enddate>20220901</enddate><creator>Buffet, Camille</creator><creator>Allard, Lucie</creator><creator>Guillerm, Erell</creator><creator>Ghander, Cécile</creator><creator>Mathy, Elise</creator><creator>Lussey-Lepoutre, Charlotte</creator><creator>Julien, Nicolas</creator><creator>Touma, Eliane</creator><creator>Quilhot, Pauline</creator><creator>Godiris-Petit, Gaelle</creator><creator>Lacorte, Jean-Marc</creator><creator>Leenhardt, Laurence</creator><creator>Denis, Jérôme Alexandre</creator><general>Bioscientifica Ltd</general><general>Oxford University Press</general><general>Oxford Univ. 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Considering the fast development of ATC, droplet digital PCR (ddPCR) performed on fine-needle aspirate (FNA), which is a rapid, reliable, and low-cost method, appears interesting for the detection of BRAFV600E mutation in these patients and allows early initiation of targeted therapies. Results In our two patients, both presenting extensive cervical masses inaccessible to surgery, ddPCR results were available in less than 24 h. Therefore, dabrafenib and trametinib were started only a few days after first contact. Conclusions We suggest that ddPCR on FNA be used in non-resectable cervical masses for rapid BRAFV600E mutation detection in the hope that starting targeted therapies early might improve outcomes.</abstract><cop>Bristol</cop><pub>Bioscientifica Ltd</pub><doi>10.1530/EJE-22-0366</doi><orcidid>https://orcid.org/0000-0003-1389-4157</orcidid><orcidid>https://orcid.org/0000-0002-1617-4617</orcidid><orcidid>https://orcid.org/0000-0001-7277-1582</orcidid></addata></record> |
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| source | Oxford University Press Journals |
| subjects | Brief Report Cervix Life Sciences MEK inhibitors Mutation Patients Thyroid carcinoma |
| title | Detection of BRAFV600E by digital PCR on fine-needle aspirate enables rapid initiation of dabrafenib and trametinib in unresectable anaplastic thyroid carcinoma |
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