BCR-ABL1 e6a2 transcript in chronic myeloid leukemia: biological features and molecular monitoring by droplet digital PCR.
The BCR-ABL1 fusion on the Philadelphia (Ph) chromosome is a hallmark of chronic myeloid leukemia (CML). More than 95 % of BCR-ABL1 transcripts in CML are either e13a2 or e14a2 (major breakpoint cluster region or M-bcr), whereas rare BCR-ABL1 transcripts are occasionally observed, accounting for les...
| Publicado en: | Virchows Archiv: European Journal of Pathology Vol. 467; no. 3; pp. 357 - 364 |
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| Autores principales: | , , , , , , , , , , , , , , |
| Formato: | case study research Journal Article |
| Publicado: |
Springer Nature
Sep2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109639143&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109639143 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09456317 O1Z jtl: Virchows Archiv: European Journal of Pathology issn: 09456317 maglogo: N pubinfo: dt: Sep2015 vid: 467 iid: 3 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 109639143 NLM26149409 2013152233 10.1007/s00428-015-1802-z NLM26149409 109639143 ppf: 357 ppct: 7 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: BCR-ABL1 e6a2 transcript in chronic myeloid leukemia: biological features and molecular monitoring by droplet digital PCR. aug: au: Zagaria, Antonella Anelli, Luisa Coccaro, Nicoletta Tota, Giuseppina Casieri, Paola Cellamare, Angelo Impera, Luciana Brunetti, Claudia Minervini, Angela Minervini, Crescenzio Francesco Delia, Mario Cumbo, Cosimo Orsini, Paola Specchia, Giorgina Albano, Francesco sug: ab: The BCR-ABL1 fusion on the Philadelphia (Ph) chromosome is a hallmark of chronic myeloid leukemia (CML). More than 95 % of BCR-ABL1 transcripts in CML are either e13a2 or e14a2 (major breakpoint cluster region or M-bcr), whereas rare BCR-ABL1 transcripts are occasionally observed, accounting for less than 1 % of CML cases. Among these, a very rare fusion transcript joining the first 6 exons of BCR to exon 2 of ABL1 (e6a2) has been reported in various hematological malignancies characterized by an aggressive clinical course. We report a new case of blast crisis (BC) CML with an e6a2 fusion transcript characterized by many eosinophil precursors with abnormal granules. Moreover, fluorescence in situ hybridization analysis revealed genomic deletions of 1.3 megabases and 342 kilobases on der(9) of chromosome 9 and 22 sequences, respectively. The fusion transcript was quantified at diagnosis and during follow-up using digital droplet polymerase chain reaction (ddPCR) technology. The patient was treated with Dasatinib (140 mg/day), resulting in a 3-log reduction of the e6a2 transcript molecular burden from the third month after treatment. In this twentieth e6a2 case, characterized by marked eosinophilic dysplasia, deletions on der(9), and responsive to tyrosine kinase inhibitors therapy, we demonstrate that for molecular response monitoring of rare fusion transcripts associated with CML, ddPCR is a very useful technology. pubtype: Academic Journal doctype: case study research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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