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Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report

The presence of the translocation t(9;22)(q34;q11), leading to the BCR::ABL1 fusion transcript, is the hallmark of chronic myeloid leukemia (CML). Nevertheless, atypical presentation at diagnosis can be challenging. However, although most patients with CML are diagnosed with the e13a2 or e14a2 BCR::...

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Autores principales: Ramdohr, Florian, Fabarius, Alice, Maier, Bettina, Bretschneider, Daniela, Jauch, Anna, Monecke, Astrid, Metzeler, Klaus H., Janssen, Johannes W. G., Schlenk, Richard F., Kayser, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464917/
https://www.ncbi.nlm.nih.gov/pubmed/36106102
http://dx.doi.org/10.3389/fonc.2022.960914
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author Ramdohr, Florian
Fabarius, Alice
Maier, Bettina
Bretschneider, Daniela
Jauch, Anna
Monecke, Astrid
Metzeler, Klaus H.
Janssen, Johannes W. G.
Schlenk, Richard F.
Kayser, Sabine
author_facet Ramdohr, Florian
Fabarius, Alice
Maier, Bettina
Bretschneider, Daniela
Jauch, Anna
Monecke, Astrid
Metzeler, Klaus H.
Janssen, Johannes W. G.
Schlenk, Richard F.
Kayser, Sabine
author_sort Ramdohr, Florian
collection PubMed
description The presence of the translocation t(9;22)(q34;q11), leading to the BCR::ABL1 fusion transcript, is the hallmark of chronic myeloid leukemia (CML). Nevertheless, atypical presentation at diagnosis can be challenging. However, although most patients with CML are diagnosed with the e13a2 or e14a2 BCR::ABL1 fusion transcripts, about 5% of them carry rare BCR::ABL1 fusion transcripts, such as e19a2, e8a2, e13a3, e14a3, e1a3, and e6a2. In particular, the e6a2 fusion transcript has been associated with clinically aggressive disease frequently presenting in accelerated or blast crisis phases. To date, there is limited evidence on the efficacy of front-line second-generation tyrosine kinase inhibitors for this genotype. Here, we report two patients, in whom the diagnosis of CML was challenging. The use of primers recognizing more distant exons from the common BCR::ABL1 breakpoint region correctly identified the atypical BCR::ABL1 e6a2 fusion transcript. Treatment with the second-generation tyrosine kinase inhibitor nilotinib was effective in our patient expressing the atypical e6a2 BCR::ABL1 fusion transcript.
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spelling pubmed-94649172022-09-13 Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report Ramdohr, Florian Fabarius, Alice Maier, Bettina Bretschneider, Daniela Jauch, Anna Monecke, Astrid Metzeler, Klaus H. Janssen, Johannes W. G. Schlenk, Richard F. Kayser, Sabine Front Oncol Oncology The presence of the translocation t(9;22)(q34;q11), leading to the BCR::ABL1 fusion transcript, is the hallmark of chronic myeloid leukemia (CML). Nevertheless, atypical presentation at diagnosis can be challenging. However, although most patients with CML are diagnosed with the e13a2 or e14a2 BCR::ABL1 fusion transcripts, about 5% of them carry rare BCR::ABL1 fusion transcripts, such as e19a2, e8a2, e13a3, e14a3, e1a3, and e6a2. In particular, the e6a2 fusion transcript has been associated with clinically aggressive disease frequently presenting in accelerated or blast crisis phases. To date, there is limited evidence on the efficacy of front-line second-generation tyrosine kinase inhibitors for this genotype. Here, we report two patients, in whom the diagnosis of CML was challenging. The use of primers recognizing more distant exons from the common BCR::ABL1 breakpoint region correctly identified the atypical BCR::ABL1 e6a2 fusion transcript. Treatment with the second-generation tyrosine kinase inhibitor nilotinib was effective in our patient expressing the atypical e6a2 BCR::ABL1 fusion transcript. Frontiers Media S.A. 2022-08-29 /pmc/articles/PMC9464917/ /pubmed/36106102 http://dx.doi.org/10.3389/fonc.2022.960914 Text en Copyright © 2022 Ramdohr, Fabarius, Maier, Bretschneider, Jauch, Monecke, Metzeler, Janssen, Schlenk and Kayser https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Ramdohr, Florian
Fabarius, Alice
Maier, Bettina
Bretschneider, Daniela
Jauch, Anna
Monecke, Astrid
Metzeler, Klaus H.
Janssen, Johannes W. G.
Schlenk, Richard F.
Kayser, Sabine
Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report
title Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report
title_full Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report
title_fullStr Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report
title_full_unstemmed Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report
title_short Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report
title_sort atypical presentation of patients with chronic myeloid leukemia in chronic phase—case report
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464917/
https://www.ncbi.nlm.nih.gov/pubmed/36106102
http://dx.doi.org/10.3389/fonc.2022.960914
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