{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T05:05:57Z","timestamp":1784955957457,"version":"3.55.0"},"reference-count":14,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T00:00:00Z","timestamp":1706572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"2024 Yeungnam University Research Grant"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Chronic myeloid leukemia (CML) is characterized by the Philadelphia (Ph) chromosome resulting from the translocation of t(9;22)(q34;q11), producing the BCR::ABL1 fusion gene. Variant Ph chromosome translocations, involving rearrangements in chromosomes other than 9 and 22, occur in 5\u201310% of CML cases. Herein, we report a unique case of a 36-year-old male with a four-way variant Ph chromosome. Conventional chromosomal analysis performed on bone marrow aspirate samples showed 46, XY, t(1;9;22;16)(q21;q34;q11.2;q24). Nested RT-PCR of the BCR::ABL1 gene revealed a major BCR::ABL rearrangement. The treatment with nilotinib achieved a complete hematologic, cytogenetic, and molecular response after 12 months.<\/jats:p>","DOI":"10.3390\/diagnostics14030303","type":"journal-article","created":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T07:49:47Z","timestamp":1706600987000},"page":"303","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel Four-Way Variant Translocation, t(1;9;22;16)(q21;q34;q11.2;q24), in a Patient with Chronic Myeloid Leukemia"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3024-6891","authenticated-orcid":false,"given":"Han Joon","family":"Son","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Yeungnam University Medical Center, Daegu 42415, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6837-838X","authenticated-orcid":false,"given":"Jong Ho","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Yeungnam University College of Medicine, Daegu 42415, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/243290a0","article-title":"Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining","volume":"243","author":"Rowley","year":"1973","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1182\/blood-2008-03-144790","article-title":"Molecular biology of bcr-abl1-positive chronic myeloid leukemia","volume":"113","author":"Cortes","year":"2009","journal-title":"Blood"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.cancergencyto.2006.10.006","article-title":"On the genesis and prognosis of variant translocations in chronic myeloid leukemia","volume":"173","author":"Gorusu","year":"2007","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"6793","DOI":"10.1182\/blood-2011-01-328294","article-title":"Variant Philadelphia translocations: Molecular-cytogenetic characterization and prognostic influence on frontline imatinib therapy, a GIMEMA Working Party on CML analysis","volume":"117","author":"Marzocchi","year":"2011","journal-title":"Blood"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/j.1365-2141.2004.04899.x","article-title":"Results of imatinib mesylate therapy in chronic myelogenous leukaemia with variant Philadelphia chromosome","volume":"125","author":"Kantarjian","year":"2004","journal-title":"Br. J. Haematol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1046\/j.1365-2141.2003.04291.x","article-title":"Survival implications of molecular heterogeneity in variant Philadelphia-positive chronic myeloid leukaemia","volume":"121","author":"Reid","year":"2003","journal-title":"Br. J. Haematol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/ajco.13522","article-title":"Evaluation of cytogenetic response in CML patients with variant Philadelphia translocation","volume":"18","author":"Shetty","year":"2022","journal-title":"Asia Pac. J. Clin. Oncol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"6760","DOI":"10.1182\/blood-2011-08-373902","article-title":"Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: Long-term observation of 1151 patients from the randomized CML Study IV","volume":"118","author":"Fabarius","year":"2011","journal-title":"Blood"},{"key":"ref_9","unstructured":"Mitelman, F., Johansson, B., and Mertens, F. (2023, November 01). Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. Available online: https:\/\/mitelmandatabase.isb-cgc.org."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1159\/000046636","article-title":"Cytogenetic and molecular genetic evolution of chronic myeloid leukemia","volume":"107","author":"Johansson","year":"2002","journal-title":"Acta Haematol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.cancergencyto.2008.01.005","article-title":"Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy","volume":"182","author":"Richebourg","year":"2008","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1755-8166-2-21","article-title":"Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: A case report","volume":"2","author":"Wafa","year":"2009","journal-title":"Mol. Cytogenet."},{"key":"ref_13","first-page":"107","article-title":"Deletion of the derivative chromosome 9 in chronic myeloid leukemia","volume":"125","author":"Campbell","year":"2006","journal-title":"Methods Mol. Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1182\/blood.V95.3.738.003k21_738_743","article-title":"Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia","volume":"95","author":"Sinclair","year":"2000","journal-title":"Blood"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/3\/303\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T13:51:44Z","timestamp":1760104304000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/3\/303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,30]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,2]]}},"alternative-id":["diagnostics14030303"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics14030303","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,30]]}}}