{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:06:48Z","timestamp":1722298008947},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,27]],"date-time":"2016-01-27T00:00:00Z","timestamp":1453852800000},"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; Cancer"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:p>Systemic mastocytosis (SM) is characterized by a clonal proliferation of aberrant mast cells within extracutaneous sites. In a subset of SM cases, a second associated hematologic non\u2010mast cell disease (AHNMD) is also present, usually of myeloid origin. Polymerase chain reaction and targeted fluorescence in situ hybridization studies have provided evidence that, in at least some cases, the aberrant mast cells are related clonally to the neoplastic cells of the AHNMD. In this work, a single nucleotide polymorphism microarray (SNP\u2010A) was used to characterize the cytogenetics of the aberrant mast cells from a patient with acute myeloid leukemia and concomitant mast cell leukemia associated with a <jats:italic>KIT<\/jats:italic> D816A mutation. The results demonstrate the presence of shared cytogenetic abnormalities between the mast cells and myeloid blasts, as well as additional abnormalities within mast cells (copy\u2010neutral loss of heterozygosity) not detectable by routine karyotypic analysis. To our knowledge, this work represents the first application of SNP\u2010A whole\u2010genome scanning to the detection of shared cytogenetic abnormalities between the two components of a case of SM\u2010AHNMD. The findings provide additional evidence of a frequent clonal link between aberrant mast cells and cells of myeloid AHNMDs, and also highlight the importance of direct sequencing for identifying uncommon activating <jats:italic>KIT<\/jats:italic> mutations. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22342","type":"journal-article","created":{"date-parts":[[2016,1,27]],"date-time":"2016-01-27T11:58:48Z","timestamp":1453895928000},"page":"389-396","source":"Crossref","is-referenced-by-count":4,"title":["Shared clonal cytogenetic abnormalities in aberrant mast cells and leukemic myeloid blasts detected by single nucleotide polymorphism microarray\u2010based whole\u2010genome scanning"],"prefix":"10.1002","volume":"55","author":[{"given":"John K.","family":"Frederiksen","sequence":"first","affiliation":[{"name":"Department of Pathology University of Michigan Ann Arbor MI"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Michigan Ann Arbor MI"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dale L.","family":"Bixby","sequence":"additional","affiliation":[{"name":"Division of Hematology\u2013Oncology Department of Internal Medicine University of Michigan Ann Arbor MI"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles W.","family":"Ross","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Michigan Ann Arbor MI"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,1,27]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2013.33.2.125"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31539"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2003.012864"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.23403"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/10428194.2010.503821"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2012.07.001"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molonc.2010.04.008"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.11.4882"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-04-015545"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-07-442400"},{"key":"e_1_2_4_12_1","first-page":"54","volume-title":"WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues","author":"Horny H\u2010P","year":"2008"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1309\/AJCP1Q0YSXEAHNKK"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.12050"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2010.01513.x"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-02-205237"},{"key":"e_1_2_4_17_1","doi-asserted-by":"crossref","unstructured":"MehtaA ReddyVVB BorateU.2012. Anti CD\u201030 antibody\u2010drug conjugate brentuximab vedotin (ADCETRIS\u00ae) may be a promising treatment option for systemic mastocytosis (SM). 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