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Blood, 1 November 2007, Vol. 110, No. 9, pp. 3384-3386. Prepublished online as a Blood First Edition Paper on July 20, 2007; DOI 10.1182/blood-2007-06-094276. This Article Full Text (PDF) All Versions of this Article: blood-2007-06-094276v1 110/9/3384    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Teofili, L. Articles by Larocca, L. M. Search for Related Content PubMed PubMed Citation Articles by Teofili, L. Articles by Larocca, L. M. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted June 6, 2007 Accepted July 16, 2007 The revised WHO diagnostic criteria for Ph-negative myeloproliferative diseases are not appropriate for the diagnostic screening of childhood polycythemia vera and essential thrombocythemia Luciana Teofili, Fiorina Giona, Maurizio Martini, Tonia Cenci, Francesco Guidi, Lorenza Torti, Giovanna Palumbo, Angela Amendola, Giuseppe Leone, Robin Foa, and Luigi Maria Larocca* Department of Hematology, Catholic University, Rome, Italy Department of Cellular Biotechnologies and Hematology, Division of Hematology, "La Sapienza" University, Rome, Italy Department of Pathology, Catholic University, Rome, Italy * Corresponding author; email: llarocca{at}rm.unicatt.it. In the proposed revised World Health Organization (WHO) criteria for the diagnosis of BCR-ABL-negative myeloproliferative diseases (MPDs), exclusion criteria have been replaced by the presence of JAK2 mutations. We applied these criteria to 45 children with MPDs: 13 with polycythemia vera (PV) and 32 with essential thrombocythemia (ET). Among these 45 patients, 12 with ET and 5 with PV had a familial history of MPD, and had been investigated for hereditary mutations of the erythropoietin receptor, thrombopoietin or MPL genes. We found that the JAK2V617F mutation in children occurs less frequently than in adults and that exon 12 JAK2 mutations are absent. On the basis of the revised WHO criteria, a significant proportion of childhood PV were misdiagnosed. Furthermore, all familial ET - including patients carrying the hereditary MPLSer505Asn activating mutation - were erroneously diagnosed as MPDs. Our observations suggest that childhood MPDs require a set of specific diagnostic criteria. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: A. M. Vannucchi, P. Guglielmelli, and A. Tefferi Advances in Understanding and Management of Myeloproliferative Neoplasms CA Cancer J Clin, May 1, 2009; 59(3): 171 - 191. [Abstract] [Full Text] [PDF] M. Martini, L. Teofili, T. Cenci, F. Giona, L. Torti, M. Rea, R. Foa, G. Leone, and L. M. Larocca A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis Haematologica, July 1, 2008; 93(7): 1068 - 1071. [Abstract] [Full Text] [PDF] L. Teofili, R. Foa, F. Giona, and L. M. Larocca Childhood polycythemia vera and essential thrombocythemia: does their pathogenesis overlap with that of adult patients? Haematologica, February 1, 2008; 93(2): 169 - 172. [Full Text] [PDF]

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