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Hematology Reports
Volume 13
Issue 1
10.4081/hr.2021.8795
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Hematology Reports is published by MDPI from Volume 14 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

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

by
Silvia Soriani
1,*,
Valentina Guido
1,
Giambattista Bertani
2,
Clara Cesana
1,
Valentina Motta
1,
Gabriella De Canal
1,
Elena De Paoli
1,
Silvio Veronese
1,
Emanuela Bonoldi
1 and
Lorenza Romitti
1
1
Department of Laboratory Medicine, Niguarda Hospital, Piazza Ospedale Maggiore 3, 20162 Milan, Italy
2
Department of Hematology, Niguarda Hospital, 20162 Milan, Italy
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2021, 13(1), 8795; https://doi.org/10.4081/hr.2021.8795
Submission received: 16 July 2020 / Revised: 8 November 2020 / Accepted: 1 February 2021 / Published: 24 March 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.
Keywords: Chronic Myeloid Leukemia; CML; Philadelphia chromosome-negative; masked Philadelphia; p.(Tyr315Ile) mutation Chronic Myeloid Leukemia; CML; Philadelphia chromosome-negative; masked Philadelphia; p.(Tyr315Ile) mutation

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MDPI and ACS Style

Soriani, S.; Guido, V.; Bertani, G.; Cesana, C.; Motta, V.; De Canal, G.; De Paoli, E.; Veronese, S.; Bonoldi, E.; Romitti, L. 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. Hematol. Rep. 2021, 13, 8795. https://doi.org/10.4081/hr.2021.8795

AMA Style

Soriani S, Guido V, Bertani G, Cesana C, Motta V, De Canal G, De Paoli E, Veronese S, Bonoldi E, Romitti L. 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. Hematology Reports. 2021; 13(1):8795. https://doi.org/10.4081/hr.2021.8795

Chicago/Turabian Style

Soriani, Silvia, Valentina Guido, Giambattista Bertani, Clara Cesana, Valentina Motta, Gabriella De Canal, Elena De Paoli, Silvio Veronese, Emanuela Bonoldi, and Lorenza Romitti. 2021. "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" Hematology Reports 13, no. 1: 8795. https://doi.org/10.4081/hr.2021.8795

APA Style

Soriani, S., Guido, V., Bertani, G., Cesana, C., Motta, V., De Canal, G., De Paoli, E., Veronese, S., Bonoldi, E., & Romitti, L. (2021). 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. Hematology Reports, 13(1), 8795. https://doi.org/10.4081/hr.2021.8795

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