{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T06:07:22Z","timestamp":1771308442425,"version":"3.50.1"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T00:00:00Z","timestamp":1771286400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010256","name":"Guangzhou Municipal Science and Technology Project","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010256","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>\n                    Persistent leukocytosis, massive splenomegaly, and eosinophilia are common manifestations in patients with myeloproliferative neoplasms (MPNs), particularly in those with chronic myeloid leukemia (CML). CML is characterized by the\n                    <jats:italic>BCR::ABL<\/jats:italic>\n                    fusion gene, typically associated with the t(9;22)(q34;q11) translocation. Herein, we report a case of myeloid neoplasm with a rare variant translocation, t(4;22)(q12;q11), involving the\n                    <jats:italic>BCR::PDGFRA<\/jats:italic>\n                    fusion gene and coexisting\n                    <jats:italic>PDGFRA<\/jats:italic>\n                    variants, accompanied by persistent leukocytosis, massive splenomegaly, and eosinophilia. Laboratory tests showed elevated white blood cell counts, with increased monocytes, neutrophils, and eosinophils. Bone marrow aspiration revealed a granulocytic-erythrocytic ratio of 189:1, marked granulocytic hyperplasia, and numerous immature granulocytes. Genetic testing confirmed an uncommon\n                    <jats:italic>BCR::PDGFRA<\/jats:italic>\n                    and coexisting\n                    <jats:italic>PDGFRA<\/jats:italic>\n                    mutations (c.1666G&amp;gt;A and c.1701A&amp;gt;G), confirming the diagnosis of myeloid neoplasm with\n                    <jats:italic>BCR::PDGFRA<\/jats:italic>\n                    rearrangement. Treatment with imatinib, a tyrosine kinase inhibitor, resulted in a continuous complete molecular response (CMR). To our knowledge, this is the first report to demonstrate the clinical and cytogenetic manifestations of\n                    <jats:italic>BCR::PDGFRA<\/jats:italic>\n                    positive myeloid neoplasm coexisting\n                    <jats:italic>PDGFRA<\/jats:italic>\n                    mutations. Furthermore, it emphasizes the effectiveness of targeted therapy and the significance of personalized management.\n                  <\/jats:p>","DOI":"10.3389\/fonc.2026.1671293","type":"journal-article","created":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T05:18:23Z","timestamp":1771305503000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Co-existence of BCR::PDGFRA gene fusion and PDGFRA variants in myeloid neoplasm with persistent leukocytosis, large splenomegaly, and eosinophilia"],"prefix":"10.3389","volume":"16","author":[{"given":"Zhifang","family":"Xiao","sequence":"first","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]},{"name":"Guangzhou University of Chinese Medicine","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chongyan","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianjun","family":"He","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinfeng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yueqi","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengshan","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Ouyang","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonghua","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Hematology, General Hospital of Southern Theater Command","place":["Guangzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,17]]},"reference":[{"key":"B1","unstructured":"Myeloproliferative neoplasms\n          \n          \n            \n              Thapa\n              B\n            \n            \n              Fazal\n              S\n            \n            \n              Parsi\n              M\n            \n            \n              Rogers\n              HJ\n            \n          \n          Treasure Island (FL)\n          StatPearls Publishing\n          Statpearls\n          \n          2025"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V77.2.324.324","article-title":"Consistent involvement of the BCR gene by 9;22 breakpoints in pediatric acute leukemias","volume":"77","author":"Suryanarayan","year":"1991","journal-title":"Blood"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/s1535-6108(04)00053-4","article-title":"Distinct stem cell myeloproliferative\/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations","volume":"5","author":"Roumiantsev","year":"2004","journal-title":"Cancer Cell"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.26837","article-title":"BCR: A promiscuous fusion partner in hematopoietic disorders","volume":"10","author":"Peiris","year":"2019","journal-title":"Oncotarget"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.12.1391","article-title":"The t(4;22)(q12;q11) in atypical chronic myeloid leukaemia fuses BCR to PDGFRA","volume":"11","author":"Baxter","year":"2002","journal-title":"Hum Mol Genet"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2023022417","article-title":"How I diagnose and treat myeloid\/lymphoid neoplasms with tyrosine kinase gene fusions","volume":"145","author":"Reiter","year":"2025","journal-title":"Blood"},{"key":"B7","unstructured":"Myeloid\/lymphoid neoplasms with eosinophilia and platelet derived growth factor receptor alpha (PDGFRA) rearrangement\n          \n          \n            \n              Kaur\n              P\n            \n            \n              Khan\n              WA\n            \n          \n          \n            \n              Li\n              W\n            \n          \n          36395310\n          Brisbane (AU)\n          Exon Publications\n          Leukemia\n          \n          2022"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2008.11.016","article-title":"Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1\/PDGFRA fusion and PDGFRA translocations","volume":"33","author":"Fink","year":"2009","journal-title":"Leuk Res"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa025217","article-title":"A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome","volume":"348","author":"Cools","year":"2003","journal-title":"N Engl J Med"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-10-695973","article-title":"Myeloid neoplasms with eosinophilia","volume":"129","author":"Reiter","year":"2017","journal-title":"Blood"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206543","article-title":"Chronic myeloproliferative disorders with rearrangement of the platelet-derived growth factor alpha receptor: A new clinical target for STI571\/glivec","volume":"22","author":"Trempat","year":"2003","journal-title":"Oncogene"},{"key":"B12","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1002\/gcc.20014","article-title":"Molecular and cytogenetic characterization of a novel translocation t(4;22) involving the breakpoint cluster region and platelet-derived growth factor receptor-alpha genes in a patient with atypical chronic myeloid leukemia","volume":"40","author":"Safley","year":"2004","journal-title":"Genes Chromosomes Cancer"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.016345","article-title":"Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis","volume":"95","author":"Erben","year":"2010","journal-title":"Haematologica"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2010.07.028","article-title":"t(4;22)(q12;q11.2) involving presumptive platelet-derived growth factor receptor a and break cluster region in a patient with mixed phenotype acute leukemia","volume":"42","author":"Wang","year":"2011","journal-title":"Hum Pathol"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2015.04.007","article-title":"BCR-PDGFRA fusion in a T lymphoblastic leukemia\/lymphoma","volume":"208","author":"Yigit","year":"2015","journal-title":"Cancer Genet"},{"key":"B16","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1111\/j.1365-2141.2007.06628.x","article-title":"Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia","volume":"138","author":"Curtis","year":"2007","journal-title":"Br J Haematol"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-10-050054","article-title":"Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia","volume":"109","author":"Jovanovic","year":"2007","journal-title":"Blood"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-05-024828","article-title":"Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders","volume":"109","author":"David","year":"2007","journal-title":"Blood"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020150","article-title":"Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta","volume":"347","author":"Apperley","year":"2002","journal-title":"N Engl J Med"},{"key":"B20","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.3390\/life11111158","article-title":"Genetic landscape of myeloproliferative neoplasms with an emphasis on molecular diagnostic laboratory testing","volume":"11","author":"Easwar","year":"2021","journal-title":"Life (Basel)"},{"key":"B21","doi-asserted-by":"publisher","first-page":"e29179","DOI":"10.1097\/MD.0000000000029179","article-title":"A rare cause of persistent leukocytosis with massive splenomegaly: Myeloid neoplasm with BCR-PDGFRA rearrangement-case report and literature review","volume":"101","author":"Gao","year":"2022","journal-title":"Med (Baltimore)"},{"key":"B22","doi-asserted-by":"crossref","DOI":"10.1007\/s12288-019-01095-9","article-title":"Detection of BCR\/PDGRF\u03b1 fusion using dual colour dual fusion BCR\/ABL1 probe: an illustrative report","volume":"35","author":"Singh","year":"2019","journal-title":"Indian J Hematol Blood Transfus"},{"key":"B23","article-title":"Therapy-related acute myeloid leukemia with eosinophilia, basophilia, t(4;14)(q12;q24) and PDGFRA rearrangement: A case report and review of the literature","volume":"8","author":"Zhou","year":"2015","journal-title":"Int J Clin Exp Path"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2026.1671293\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T05:18:24Z","timestamp":1771305504000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2026.1671293\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,17]]},"references-count":23,"alternative-id":["10.3389\/fonc.2026.1671293"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2026.1671293","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,17]]},"article-number":"1671293"}}