Complex karyotype with double Philadelphia chromosome and T315I mutation results in blastic phase and extensive extramedullary infiltration in a chronic myeloid leukemia patient

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dc.authoridPekerbas, Mert/0000-0003-0515-2858
dc.authorscopusid57208321258
dc.authorscopusid57807903500
dc.authorscopusid6602888517
dc.authorscopusid23472577300
dc.authorscopusid26323267700
dc.authorscopusid7003907434
dc.authorscopusid6701575271
dc.authorwosidPekerbas, Mert/GQH-9063-2022
dc.contributor.authorDavulcu, Eren Arslan
dc.contributor.authorPekerbas, Mert
dc.contributor.authorKaraca, Emin
dc.contributor.authorDurmaz, Burak
dc.contributor.authorOzsan, Nazan
dc.contributor.authorAkin, Haluk
dc.contributor.authorSaydam, Guray
dc.date.accessioned2023-01-12T19:54:30Z
dc.date.available2023-01-12T19:54:30Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractChronic myeloid leukemia (CML) is a common hematological malignancy originating from bone marrow stem cells. Chromosomal abnormalities can be seen in almost all cases, the most known anomaly being Philadelphia (Ph) chromosome, a derivative chromosome resulting from a translocation between 9. and 22. chromosome. Other chromosomal abnormalities may be present in 10% of patients at diagnosis, al-though they emerge frequently during the acute transformation and can be associated with unfavorable significance. Also, point mutations like T315I in BCR-ABL fusion gene may arise during the course of the disease and thereby cause tyrosine kinase inhibitors (TKI) resistance. Here, we report a BCR-ABL positive CML patient who was followed for 6 years in major molecular response (MMR), complete cytogenetic response (CCR), and complete hematological response (CHR). He had a sudden loss of hematological, cy-togenetic, and molecular response with a very aggressive blastic course and extensive extramedullary infiltration, with T315I mutation, complex translocations, an extra Ph chromosome, and additional chro-mosomes. The patient who received intensive cytotoxic chemotherapy together with ponatinib treatment, which is effective for the T315I mutation, never went into remission, and there was no chance of trans-plantation because a suitable donor for HLA could not be found. Although these findings are not very rare individually, coexistence of complex karyotype and T315I mutation is not frequent and complicates clinical management. Our patient is the first case in literature with all disclosed findings together and indicates the importance of early detection of these chromosomal and molecular abnormalities.(c) 2022 Elsevier Inc. All rights reserved.en_US
dc.identifier.doi10.1016/j.cancergen.2022.07.002
dc.identifier.endpage80en_US
dc.identifier.issn2210-7762
dc.identifier.issn2210-7770
dc.identifier.pmid35843036en_US
dc.identifier.scopus2-s2.0-85134355879en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage74en_US
dc.identifier.urihttps://doi.org/10.1016/j.cancergen.2022.07.002
dc.identifier.urihttps://hdl.handle.net/11454/76443
dc.identifier.volume266en_US
dc.identifier.wosWOS:000831523500001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Incen_US
dc.relation.ispartofCancer Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLeukemiaen_US
dc.subjectComplexen_US
dc.subjectDoubleen_US
dc.subjectPhiladelphiaen_US
dc.subjectT315Ien_US
dc.subjectAbnormalitiesen_US
dc.subjectCd25en_US
dc.subjectClassificationen_US
dc.subjectExpressionen_US
dc.subjectDiagnosisen_US
dc.subjectPonatiniben_US
dc.subjectTrialen_US
dc.subjectRisken_US
dc.titleComplex karyotype with double Philadelphia chromosome and T315I mutation results in blastic phase and extensive extramedullary infiltration in a chronic myeloid leukemia patienten_US
dc.typeArticleen_US

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