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If the disease progresses into acute myeloid leukemia (AML), it is often refractory to treatment. To gain insight into genetic alterations associated with disease progression, whole exome sequencing and single nucleotide polymorphism arrays were used to characterize the bone marrow and blood samples from a 39\u2010year\u2010old woman at MDS\/MPN\u2010U diagnosis and at AML progression, in which routine genetic diagnostics had not identified any genetic alterations. The data revealed the presence of a partial tandem duplication of the <jats:italic>MLL<\/jats:italic> gene as the only detectable copy number change and 11 non\u2010silent somatic mutations, including <jats:italic>DNMT3A<\/jats:italic> R882H and <jats:italic>NRAS<\/jats:italic> G13D. All somatic lesions were present both at initial MDS\/MPN\u2010U diagnosis and at AML presentation at similar mutant allele frequencies. The patient has since had two extramedullary relapses and is at high risk of a future bone marrow relapse. A directed ex vivo drug sensitivity analysis showed that the patient's AML cells are sensitive to, for example, the MEK inhibitor trametinib and the proteasome inhibitor bortezomib, indicating that she may benefit from treatment with these drugs. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22384","type":"journal-article","created":{"date-parts":[[2016,5,31]],"date-time":"2016-05-31T09:57:14Z","timestamp":1464688634000},"page":"847-854","source":"Crossref","is-referenced-by-count":2,"title":["Genomic profiling and directed ex vivo drug analysis of an unclassifiable myelodysplastic\/myeloproliferative neoplasm progressing into acute myeloid leukemia"],"prefix":"10.1002","volume":"55","author":[{"given":"Axel","family":"Hyrenius\u2010Wittsten","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Laboratory Medicine Lund, Division of Clinical Genetics, Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Sturesson","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Laboratory Medicine Lund, Division of Clinical Genetics, Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahtab","family":"Bidgoli","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Lund University, Skane University Hospital Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tord","family":"Jonson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Lund University, Skane University Hospital Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mats","family":"Ehinger","sequence":"additional","affiliation":[{"name":"Department of Pathology Lund University, Skane University Hospital Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Lilljebj\u00f6rn","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Laboratory Medicine Lund, Division of Clinical Genetics, Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Scheding","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Laboratory Medicine Lund, Lund Stem Cell Center, Lund University Lund Sweden"},{"name":"Department of Hematology Lund University, Skane University Hospital Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna K.","family":"Andersson","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Laboratory Medicine Lund, Division of Clinical Genetics, Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-08-3522"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-05-574582"},{"key":"e_1_2_6_5_1","first-page":"1418","article-title":"Partial tandem duplication of ALL1 as a recurrent molecular defect in acute myeloid leukemia with trisomy 11","volume":"56","author":"Caligiuri MA","year":"1996","journal-title":"Cancer Res"},{"key":"e_1_2_6_6_1","first-page":"55","article-title":"Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics","volume":"58","author":"Caligiuri MA","year":"1998","journal-title":"Cancer Res"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1301689"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2007.07.004"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.8"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2002.09.088"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.021808"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.051581"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-10-461624"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-03-2456"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12257"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00280-005-0135-z"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.124"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.24.9228"},{"key":"e_1_2_6_20_1","doi-asserted-by":"crossref","unstructured":"KossC NanceS ConellyM MaJ ShelatA CottonA AnQ ChengC MetzgerML JehaS RubnitzJE DowningJR GuyK GruberTA.2014. 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