{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T11:24:07Z","timestamp":1790853847609,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,7,13]],"date-time":"2010-07-13T00:00:00Z","timestamp":1278979200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Evolution to myelofibrosis (MF), acute myeloid leukemia or myelodysplastic syndrome (AML\/MDS) may occur over time in myeloproliferative neoplasms (MPN) patients most likely due to the acquisition of additional mutations. The Groupe Francophone de cytogenetique hematologique (GFCH) has collected and reviewed 82 patients with transformation of MPN (66 AML\/MDS and 16 MF). <jats:italic>JAK2V617F<\/jats:italic> and <jats:italic>TET2<\/jats:italic> mutations were searched for in 40 and 32 patients, respectively. Significantly more \u22127\/del(7q) (<jats:italic>P<\/jats:italic> = 0.004) and \u22125\/del(5q) (<jats:italic>P<\/jats:italic> = 0.03) were found in AML\/MDS with a higher incidence of dup1q (<jats:italic>P<\/jats:italic> = 0.01) in MF. Some specific chromosomal abnormalities occurred together, for example \u22125\/del(5q) and \u221217\/del(17p) (<jats:italic>P<\/jats:italic> = 0.0007). In multivariate analysis, two factors were independently associated with an inferior overall survival (OS); AML\/MDS transformation (<jats:italic>P<\/jats:italic> &lt; 0.0001) and \u22125\/del(5q) abnormality (<jats:italic>P<\/jats:italic> = 0.02). Although both giving rise to loss of 7q, der(1;7) differed from other 7q deletions in terms of distribution (lower frequency of AML\/MDS, <jats:italic>P<\/jats:italic> = 0.02), association with chromosomal abnormalities (absence of \u22125\/del(5q), <jats:italic>P<\/jats:italic> = 0.003; increased del(20q), <jats:italic>P<\/jats:italic> = 0.05), and longer OS (<jats:italic>P<\/jats:italic> = 0.0007). We detected 24\/40 (60%) <jats:italic>JAK2V617F<\/jats:italic> and 8\/25 (32%) <jats:italic>TET2<\/jats:italic> mutations in samples following transformation, ranging from wild\u2010type to mutated forms of both genes. The mutated and wild\u2010type forms of the genes were not found to be associated with a specific chromosomal abnormality. There was no evidence that <jats:italic>JAK2<\/jats:italic> or <jats:italic>TET2<\/jats:italic> mutations were associated with the type of MPN transformation, whereas the type of cytogenetic abnormalities were strongly linked, perhaps indicating that they play a specific role in the transformation process. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20802","type":"journal-article","created":{"date-parts":[[2010,7,13]],"date-time":"2010-07-13T19:49:34Z","timestamp":1279050574000},"page":"919-927","source":"Crossref","is-referenced-by-count":11,"title":["Chromosomal abnormalities in transformed Ph\u2010negative myeloproliferative neoplasms are associated to the transformation subtype and independent of <i>JAK2<\/i> and the <i>TET2<\/i> 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