{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:15:34Z","timestamp":1753888534115,"version":"3.41.2"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T00:00:00Z","timestamp":1723766400000},"content-version":"vor","delay-in-days":228,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>Chronic myeloid leukemia (CML) is associated with several breakpoint regions that result in different <jats:italic>BCR::ABL1<\/jats:italic> fusion transcripts. These include the major breakpoint region (M\u2010BCR), minor breakpoint region (m\u2010BCR), and mu breakpoint region (u\u2010BCR) corresponding to p210, p190, and p230 fusion transcripts, respectively. This patient is a 38\u2010year\u2010old female with a new diagnosis of CML in chronic phase. A novel p210 fusion transcript splice variant was detected with qualitative reverse transcription PCR and capillary electrophoresis. Subsequent FISH study was performed, which revealed 86.5% positive for the <jats:italic>BCR::ABL1<\/jats:italic> fusion. Quantitative real\u2010time polymerase chain reaction (PCR) showed a negative result for the p210 fusion transcript. The variant was further characterized by Sanger sequencing. This variant is in\u2010frame and predicted to be functional. This case illustrates the need for a combination of different testing techniques to fully characterize the rare <jats:italic>BCR::ABL1<\/jats:italic> fusion transcripts.<\/jats:p>","DOI":"10.1155\/2024\/8486267","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T11:19:43Z","timestamp":1723807183000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Novel <i>BCR::ABL1<\/i> Variant Detected with Multiple Testing Modalities"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-5870-3421","authenticated-orcid":false,"given":"J.","family":"Jean","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1843-7038","authenticated-orcid":false,"given":"M.","family":"Sukhanova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6758-9176","authenticated-orcid":false,"given":"D.","family":"Dittmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6651-8617","authenticated-orcid":false,"given":"J.","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8669-7774","authenticated-orcid":false,"given":"L. 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