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BCR/ABL1 fluorescence in situ hybridization fusion signals on both copies of chromosome 22 in a Philadelphia-masked chronic myeloid leukemia case: implication for the therapy

Authors :
Silvia Soriani
Valentina Guido
Giambattista Bertani
Clara Cesana
Valentina Motta
Gabriella De Canal
Elena De Paoli
Silvio Veronese
Emanuela Bonoldi
Lorenza Romitti
Source :
Hematology Reports, Vol 13, Iss 1 (2021)
Publication Year :
2021
Publisher :
MDPI AG, 2021.

Abstract

The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence of Philadelphia (Ph) chromosome, which results from a reciprocal translocation t(9;22)(q34;q11). In this report, we describe a CML patient with no evidence of Ph chromosome but trisomy of chromosome 8 as single cytogenetic abnormality and a typical e14a2 (b3a2) BCR-ABL1 fusion transcript. Fluorescence In Situ Hybridization (FISH) analysis revealed an uncommon signal pattern: the fusion signals were located on both copies of chromosome 22. During the course of the disease the appearance of the p.(Tyr315Ile) mutation was recorded. To the best of our knowledge this is the first Ph chromosome-negative CML case with e14a2 (b3a2) BCR-ABL1 transcript and p.(Tyr315Ile) mutation.

Details

Language :
English
ISSN :
20388322 and 20388330
Volume :
13
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Hematology Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.48e299308a342a4b3c03e528781de7f
Document Type :
article
Full Text :
https://doi.org/10.4081/hr.2021.8795