{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T21:25:42Z","timestamp":1761427542449},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T00:00:00Z","timestamp":1374105600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Cancer"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Mutation(s) of the <jats:italic>JAK2<\/jats:italic> gene (V617F) has been described in a significant proportion of Philadelphia negative Myeloproliferative Neoplasms (MPN) patients and its detection is now a cornerstone in the diagnostic algorithm.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We developed a novel assay based on peptide nucleic acid (PNA) technology coupled to immuno-fluorescence microscopy (PNA-FISH) for the specific detection at a single cell level of <jats:italic>JAK2<\/jats:italic>-mutation thus improving both the diagnostic resolution and the study of clonal prevalence.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Using this assay we found a percentage of mutated CD34+ cells ranging from 40% to 100% in Polycythemia Vera patients, from 15% to 80% in Essential Thrombocythemia and from 25% to 100% in Primary Myelofibrosis. This method allows to distinguish, with a high degree of specificity, at single cell level, between CD34+ progenitor stem cells harbouring the mutated or the wild type form of <jats:italic>JAK2<\/jats:italic> in NPM patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This method allows to identify multiple gene abnormalities which will be of paramount relevance to understand the pathophysiology and the evolution of any type of cancer.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2407-13-348","type":"journal-article","created":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T16:21:18Z","timestamp":1374164478000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Design and application of a novel PNA probe for the detection at single cell level of JAK2V617Fmutation in Myeloproliferative Neoplasms"],"prefix":"10.1186","volume":"13","author":[{"given":"Enrico","family":"Bracco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Rosso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Serra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Carnuccio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Gaidano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Nicoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pellegrino","family":"Musto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Saglio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Frassoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Cilloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,7,18]]},"reference":[{"key":"3988_CR1","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1200\/JCO.2010.29.8711","volume":"29","author":"A Tefferi","year":"2011","unstructured":"Tefferi A, Veinchenker W: Myeloproliferative neoplasms: molecular pathophysiology, essential clinical understanding, and treatment strategies. J Clin Oncol. 2011, 29: 573-582. 10.1200\/JCO.2010.29.8711.","journal-title":"J Clin Oncol"},{"key":"3988_CR2","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.1056\/NEJMoa051113","volume":"352","author":"R Kralovics","year":"2005","unstructured":"Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al: A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005, 352: 1779-1790. 10.1056\/NEJMoa051113.","journal-title":"N Engl J Med"},{"key":"3988_CR3","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1016\/j.ccr.2005.03.023","volume":"7","author":"RL Levine","year":"2005","unstructured":"Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly , et al: Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005, 7: 387-397. 10.1016\/j.ccr.2005.03.023.","journal-title":"Cancer Cell"},{"key":"3988_CR4","doi-asserted-by":"publisher","first-page":"1054","DOI":"10.1016\/S0140-6736(05)74230-6","volume":"365","author":"EJ Baxter","year":"2005","unstructured":"Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al: Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005, 365: 1054-1061.","journal-title":"Lancet"},{"key":"3988_CR5","doi-asserted-by":"publisher","first-page":"2435","DOI":"10.1182\/blood-2006-04-018259","volume":"108","author":"LM Scott","year":"2006","unstructured":"Scott LM, Scott MA, Campbell PJ, Green AR: Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood. 2006, 108: 2435-2437. 10.1182\/blood-2006-04-018259.","journal-title":"Blood"},{"key":"3988_CR6","doi-asserted-by":"publisher","first-page":"6224","DOI":"10.1073\/pnas.0601462103","volume":"103","author":"CHM Jamieson","year":"2006","unstructured":"Jamieson CHM, Gotlib J, Durocher JA, Chao MP, Mariappan MR, Lay M, et al: The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc Natl Acad Sci USA. 2006, 103: 6224-6229. 10.1073\/pnas.0601462103.","journal-title":"Proc Natl Acad Sci USA"},{"key":"3988_CR7","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1038\/365566a0","volume":"365","author":"M Egholm","year":"1993","unstructured":"Egholm M, Buchardt O, Christensen L, Behrens C, Freier SM, Driver DA, et al: PNA hybridizes to complementary oligonucleotides obeying the Watson-Crick hydrogen-bonding rules. Nature. 1993, 365: 566-568. 10.1038\/365566a0.","journal-title":"Nature"},{"key":"3988_CR8","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1093\/nass\/42.1.95","volume":"42","author":"N Sugimoto","year":"1999","unstructured":"Sugimoto N, Yamamoto K, Satoh N: Positional effect of single bulge nucleotide on PNA(peptide nucleic acid)\/DNA hybrid stability. Nucleic Acids Symp Ser. 1999, 42: 95-96. 10.1093\/nass\/42.1.95.","journal-title":"Nucleic Acids Symp Ser"},{"key":"3988_CR9","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1093\/nass\/42.1.93","volume":"42","author":"N Sugimoto","year":"1999","unstructured":"Sugimoto N, Satoh N, Yamamoto K: Comparison of thermodynamic stabilities between PNA (peptide nucleic acid)\/DNA hybrid duplexes and DNA\/DNA duplexes. Nucleic Acids Symp Ser. 1999, 42: 93-94. 10.1093\/nass\/42.1.93.","journal-title":"Nucleic Acids Symp Ser"}],"container-title":["BMC Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-13-348.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2407-13-348\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-13-348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-13-348.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T00:48:38Z","timestamp":1630543718000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmccancer.biomedcentral.com\/articles\/10.1186\/1471-2407-13-348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,18]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["3988"],"URL":"https:\/\/doi.org\/10.1186\/1471-2407-13-348","relation":{},"ISSN":["1471-2407"],"issn-type":[{"value":"1471-2407","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,18]]},"assertion":[{"value":"6 February 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 July 2013","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 July 2013","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"348"}}