{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T03:24:48Z","timestamp":1780629888537,"version":"3.54.1"},"reference-count":27,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,8,30]],"date-time":"2012-08-30T00:00:00Z","timestamp":1346284800000},"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":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>TP53<\/jats:italic> mutations are frequent in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with complex karyotype that include del(5q) and are often associated with deletion of 17p. They have also recently been observed in MDS with isolated del(5q). We assessed the incidence of 17p deletion detected by fluorescence in situ hybridization (FISH) and of <jats:italic>TP53<\/jats:italic> mutations detected by direct sequencing and their correlation and prognostic value in 26 MDS and 17 AML with del(5q). In the 20 cases with isolated del(5q) or one additional abnormality, no 17p deletion was found and 3 of the 18 cases analyzed (17%) had <jats:italic>TP53<\/jats:italic> mutation. In the 23 patients with complex karyotype, 17p deletion was suspected by conventional cytogenetics in 15 cases and confirmed by FISH in 10 of them, while <jats:italic>TP53<\/jats:italic> mutation was found in 8 of the 15 patients tested (53%), only five of whom had 17p deletion. In the whole patient series, <jats:italic>TP53<\/jats:italic> mutations were associated with shorter survival (<jats:italic>P<\/jats:italic> = 0.07). We confirm the existence of <jats:italic>TP53<\/jats:italic> mutations in 17% of MDS with isolated del(5q). In patients with del(5q) and complex karyotype, FISH and direct sequencing are complementary techniques to analyze <jats:italic>TP53<\/jats:italic> abnormalities. Our findings also suggest that sequencing of the <jats:italic>TP53<\/jats:italic> gene should be included in the study of patients with del(5q) as a single abnormality or in complex karyotype before lenalidomide treatment. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.21993","type":"journal-article","created":{"date-parts":[[2012,8,30]],"date-time":"2012-08-30T05:43:00Z","timestamp":1346305380000},"page":"1086-1092","source":"Crossref","is-referenced-by-count":63,"title":["Incidence of 17p deletions and <i>TP53<\/i> mutation in myelodysplastic syndrome and acute myeloid leukemia with 5q deletion"],"prefix":"10.1002","volume":"51","author":[{"given":"Amel","family":"Sebaa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Ades","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Baran\u2010Marzack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Joelle","family":"Mozziconacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Penther","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Dobbelstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aspasia","family":"Stamatoullas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"R\u00e9cher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Prebet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soraya","family":"Moulessehoul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Fenaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Eclache","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-08-175778"},{"key":"e_1_2_5_3_1","doi-asserted-by":"crossref","unstructured":"AdesL PrebetT StamatoullasA Recher Christian GuiezeR RaffouxE BouabdallahK HunaultM WattelE StalnikiewiczL TomaA DombretH VeyN BoehrerS GardinCandFenauxP.2010. 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