{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T11:44:43Z","timestamp":1771328683899,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,2,26]],"date-time":"2004-02-26T00:00:00Z","timestamp":1077753600000},"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":[[2004,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of <jats:italic>BCR\u2010ABL<\/jats:italic>\u2010negative atypical chronic myeloid leukemia (CML) with translocation t(4;22) (q12;q11.2) juxtaposing the breakpoint cluster region (<jats:italic>BCR<\/jats:italic>) and platelet\u2010derived growth factor receptor\u2013alpha (<jats:italic>PDGFRA<\/jats:italic>) genes. The patient was a 57\u2010year\u2010old man with a history of stage IV diffuse large B\u2010cell lymphoma, status post\u20136 cycles of combination chemotherapy in 1999, who presented in August 2002 with enlarged lymph nodes, anemia, and marked leukocytosis (50 \u00d7 10<jats:sup>9<\/jats:sup> g\/dL) consistent with a myeloproliferative disorder (MPD). A bone marrow biopsy showed granulocytic hyperplasia, neutrophilia, and mild eosinophilia. Initial cytogenetic evaluation by interphase FISH for <jats:italic>BCR\u2010ABL<\/jats:italic>, to rule out a translocation 9;22, showed a variant signal pattern consistent with rearrangement of <jats:italic>BCR<\/jats:italic> at 22q11.2, but not <jats:italic>ABL<\/jats:italic> at 9q34. Analysis of the patient's cDNA by polymerase chain reaction (PCR) for <jats:italic>BCR\u2010ABL<\/jats:italic> was negative. Cytogenetic analysis showed an abnormal karyotype with rearrangement of chromosomes 4 and 22. PCR amplification and subsequent sequence analysis demonstrated an in\u2010frame 5\u2032\u2010<jats:italic>BCR<\/jats:italic>\/3\u2032\u2010<jats:italic>PDGFRA<\/jats:italic> fusion in the patient's cDNA. <jats:italic>PDGFRA<\/jats:italic> encodes a receptor tyrosine kinase and shares structural and organizational homology with the KIT and <jats:italic>CSf1R<\/jats:italic> receptor genes. However, although the incidence of MPD involving translocations of <jats:italic>PDGFRB<\/jats:italic> has been well established, to our knowledge there are only two previous reports describing a <jats:italic>BCR\u2010PDGFRA<\/jats:italic> fusion gene, in 3 patients diagnosed with atypical CML. Here, we report the molecular and cytogenetic characterization of a patient with <jats:italic>BCR\u2010PDGFRA<\/jats:italic>\u2010positive MPD who had a complete hematologic response after treatment with imatinib mesylate. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20014","type":"journal-article","created":{"date-parts":[[2004,3,17]],"date-time":"2004-03-17T00:02:13Z","timestamp":1079481733000},"page":"44-50","source":"Crossref","is-referenced-by-count":44,"title":["Molecular and cytogenetic characterization of a novel translocation t(4;22) involving the breakpoint cluster region and platelet\u2010derived growth factor receptor\u2013alpha genes in a patient with atypical chronic myeloid leukemia"],"prefix":"10.1002","volume":"40","author":[{"given":"Anne Michele","family":"Safley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siby","family":"Sebastian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy S.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos A.","family":"Tirado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy T.","family":"Stenzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerald Z.","family":"Gong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara 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