{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T13:50:29Z","timestamp":1761918629480},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,11,12]],"date-time":"2004-11-12T00:00:00Z","timestamp":1100217600000},"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":[[2005,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The t(1;19)(q23;p13), which results in a fusion of <jats:italic>TCF3<\/jats:italic> (previously <jats:italic>E2A<\/jats:italic>) at 19p13 with <jats:italic>PBX1<\/jats:italic> at 1q23, is one of the most common translocations in acute lymphoblastic leukemia (ALL). It is seen either as a balanced t(1;19) or as an unbalanced der(19)t(1;19); occasional cases with coexisting t(1;19)\u2010 and der(19)\u2010positive clones also have been described. Although it generally has been assumed that the unbalanced form arises from the balanced t(1;19) through loss of the derivative chromosome 1 followed by duplication of the normal homologue, this has never been proved. At least two other mechanisms are possible for the formation of the der(19): an initial trisomy 1 followed by translocation and subsequent loss of the der(1) or a rearrangement during the G2 phase of the cell cycle, with the derivative chromosomes 1 and 19 ending up in separate daughter cells. The different alternatives may be distinguished by investigation of markers proximal to the breakpoint in 1q23 because they would be expected to lead to different allelic patterns. Thus, loss of heterozygosity as a result of the presence of uniparental disomy (UPD)\u2014both copies of a chromosome being derived from only one parent\u2014for chromosome 1 would be present in all der(19)\u2010harboring cases arising via the duplication pathway and in one\u2010third of cases arising via the trisomy pathway, but in none of the der(19) formed via the G2 pathway. In this study, we used quantitative fluorescence PCR with polymorphic microsatellite markers to investigate chromosomes 1 and 19 in two t(1;19)\u2010 and four der(19)\u2010positive ALLs. None of the der(19) cases displayed UPD for chromosome 1, excluding that this aberration arises through the duplication pathway. Because previous findings of cases with coexisting t(1;19) and der(19) clones are difficult to explain if the translocation originated in G2, the present results suggest that an unbalanced der(19) may arise from an initial trisomy 1 followed by t(1;19) translocation and loss of the derivative chromosome 1. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20133","type":"journal-article","created":{"date-parts":[[2004,11,12]],"date-time":"2004-11-12T19:40:04Z","timestamp":1100288404000},"page":"144-148","source":"Crossref","is-referenced-by-count":14,"title":["Formation of der(19)t(1;19)(q23;p13) in acute lymphoblastic leukemia"],"prefix":"10.1002","volume":"42","author":[{"given":"Kajsa","family":"Paulsson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Horvat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thoas","family":"Fioretos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix","family":"Mitelman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertil","family":"Johansson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,12,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199712)17:13<1299::AID-PD297>3.0.CO;2-H"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2401988"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V82.4.1086.1086"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V63.3.721.721"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.3493163.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V76.1.117.117"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2003.04113.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.02153.x"},{"key":"e_1_2_5_10_1","first-page":"3135","article-title":"Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome. A collaborative study of the Group Francais de Cytog\u00e9n\u00e9tique H\u00e9matologique","volume":"87","author":"Groupe Fran\u00e7ais de Cytog\u00e9n\u00e9tique H\u00e9matologique","year":"1996","journal-title":"Blood"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90658-2"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(98)00153-8"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2799390"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(84)90067-0"},{"key":"e_1_2_5_15_1","unstructured":"MitelmanF JohanssonB MertensF.2004. Mitelman Database of Chromosome Aberrations in Cancer. 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