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Case Report: A novel FGFR1 fusion in acute B-lymphoblastic leukemia identified by RNA sequencing

8p11 myeloproliferative syndrome is a rare hematological malignancy with aggressive course caused by the various translocation of FGFR1. In this study, a novel FGFR1 fusion was identified by RNA sequencing in a 28-year-old male patient with acute B-lymphoblastic leukemia. The patient harbors an in-f...

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Autores principales: Zhang, Zhibo, Zhu, Yiyan, Wang, Zheng, Zeng, Zhao, Wen, Lijun, Zhang, Ling, Chen, Suning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646441/
https://www.ncbi.nlm.nih.gov/pubmed/38023217
http://dx.doi.org/10.3389/fonc.2023.1276695
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author Zhang, Zhibo
Zhu, Yiyan
Wang, Zheng
Zeng, Zhao
Wen, Lijun
Zhang, Ling
Chen, Suning
author_facet Zhang, Zhibo
Zhu, Yiyan
Wang, Zheng
Zeng, Zhao
Wen, Lijun
Zhang, Ling
Chen, Suning
author_sort Zhang, Zhibo
collection PubMed
description 8p11 myeloproliferative syndrome is a rare hematological malignancy with aggressive course caused by the various translocation of FGFR1. In this study, a novel FGFR1 fusion was identified by RNA sequencing in a 28-year-old male patient with acute B-lymphoblastic leukemia. The patient harbors an in-frame fusion between KIF5B exon 15 and FGFR1 exon 10. The FGFR1 fusion and its protein expression was validated by Sanger sequencing and Western blot. Meanwhile, cytogenetic analysis reported a normal karyotype and targeted DNA sequencing identified no driver mutations, respectively. Despite he achieved complete remission after induction regimen, a relapse occurred and he became refractory to chemotherapy, and salvage haploidentical hematopoietic stem cell transplantation failed to control the progressive disease. In conclusion, we present the first case of KIF5B-FGFR1 fusion in hematological malignancy. These findings extend the spectrum of translocation in 8p11 myeloproliferative syndrome, and demonstrate the great prospect of RNA sequencing in clinical practice again.
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spelling pubmed-106464412023-01-01 Case Report: A novel FGFR1 fusion in acute B-lymphoblastic leukemia identified by RNA sequencing Zhang, Zhibo Zhu, Yiyan Wang, Zheng Zeng, Zhao Wen, Lijun Zhang, Ling Chen, Suning Front Oncol Oncology 8p11 myeloproliferative syndrome is a rare hematological malignancy with aggressive course caused by the various translocation of FGFR1. In this study, a novel FGFR1 fusion was identified by RNA sequencing in a 28-year-old male patient with acute B-lymphoblastic leukemia. The patient harbors an in-frame fusion between KIF5B exon 15 and FGFR1 exon 10. The FGFR1 fusion and its protein expression was validated by Sanger sequencing and Western blot. Meanwhile, cytogenetic analysis reported a normal karyotype and targeted DNA sequencing identified no driver mutations, respectively. Despite he achieved complete remission after induction regimen, a relapse occurred and he became refractory to chemotherapy, and salvage haploidentical hematopoietic stem cell transplantation failed to control the progressive disease. In conclusion, we present the first case of KIF5B-FGFR1 fusion in hematological malignancy. These findings extend the spectrum of translocation in 8p11 myeloproliferative syndrome, and demonstrate the great prospect of RNA sequencing in clinical practice again. Frontiers Media S.A. 2023-11-01 /pmc/articles/PMC10646441/ /pubmed/38023217 http://dx.doi.org/10.3389/fonc.2023.1276695 Text en Copyright © 2023 Zhang, Zhu, Wang, Zeng, Wen, Zhang and Chen 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
Zhang, Zhibo
Zhu, Yiyan
Wang, Zheng
Zeng, Zhao
Wen, Lijun
Zhang, Ling
Chen, Suning
Case Report: A novel FGFR1 fusion in acute B-lymphoblastic leukemia identified by RNA sequencing
title Case Report: A novel FGFR1 fusion in acute B-lymphoblastic leukemia identified by RNA sequencing
title_full Case Report: A novel FGFR1 fusion in acute B-lymphoblastic leukemia identified by RNA sequencing
title_fullStr Case Report: A novel FGFR1 fusion in acute B-lymphoblastic leukemia identified by RNA sequencing
title_full_unstemmed Case Report: A novel FGFR1 fusion in acute B-lymphoblastic leukemia identified by RNA sequencing
title_short Case Report: A novel FGFR1 fusion in acute B-lymphoblastic leukemia identified by RNA sequencing
title_sort case report: a novel fgfr1 fusion in acute b-lymphoblastic leukemia identified by rna sequencing
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646441/
https://www.ncbi.nlm.nih.gov/pubmed/38023217
http://dx.doi.org/10.3389/fonc.2023.1276695
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