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Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia

In the present report, we applied whole genome sequencing (WGS) to genetically characterize a case of pediatric T-cell acute lymphoblastic leukemia (ALL) refractory to standard therapy. WGS identified a novel JAK2 fusion, with CCDC88C as a partner. CCDC88C encodes a protein part of the Wnt signaling...

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Autores principales: Krstic, Aleksandra, Rezayee, Fatemah, Saft, Leonie, Hammarsjö, Anna, Svenberg, Petter, Barbany, Gisela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871838/
https://www.ncbi.nlm.nih.gov/pubmed/36704135
http://dx.doi.org/10.3389/fped.2022.1082986
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author Krstic, Aleksandra
Rezayee, Fatemah
Saft, Leonie
Hammarsjö, Anna
Svenberg, Petter
Barbany, Gisela
author_facet Krstic, Aleksandra
Rezayee, Fatemah
Saft, Leonie
Hammarsjö, Anna
Svenberg, Petter
Barbany, Gisela
author_sort Krstic, Aleksandra
collection PubMed
description In the present report, we applied whole genome sequencing (WGS) to genetically characterize a case of pediatric T-cell acute lymphoblastic leukemia (ALL) refractory to standard therapy. WGS identified a novel JAK2 fusion, with CCDC88C as a partner. CCDC88C encodes a protein part of the Wnt signaling pathway and has previously been described in hematological malignancies as fusion partner to FLT3 and PDGFRB. The novel CCDC88C::JAK2 fusion gene results in a fusion transcript, predicted to produce a hybrid protein, which retains the kinase domain of JAK2 and is expected to respond to JAK2 inhibitors. This report illustrates the potential of WGS in the diagnostic setting of ALL.
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spelling pubmed-98718382023-01-25 Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia Krstic, Aleksandra Rezayee, Fatemah Saft, Leonie Hammarsjö, Anna Svenberg, Petter Barbany, Gisela Front Pediatr Pediatrics In the present report, we applied whole genome sequencing (WGS) to genetically characterize a case of pediatric T-cell acute lymphoblastic leukemia (ALL) refractory to standard therapy. WGS identified a novel JAK2 fusion, with CCDC88C as a partner. CCDC88C encodes a protein part of the Wnt signaling pathway and has previously been described in hematological malignancies as fusion partner to FLT3 and PDGFRB. The novel CCDC88C::JAK2 fusion gene results in a fusion transcript, predicted to produce a hybrid protein, which retains the kinase domain of JAK2 and is expected to respond to JAK2 inhibitors. This report illustrates the potential of WGS in the diagnostic setting of ALL. Frontiers Media S.A. 2023-01-10 /pmc/articles/PMC9871838/ /pubmed/36704135 http://dx.doi.org/10.3389/fped.2022.1082986 Text en © 2023 Krstic, Rezayee, Saft, Hammarsjö, Svenberg and Barbany. 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) (https://creativecommons.org/licenses/by/4.0/) . 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 Pediatrics
Krstic, Aleksandra
Rezayee, Fatemah
Saft, Leonie
Hammarsjö, Anna
Svenberg, Petter
Barbany, Gisela
Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia
title Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia
title_full Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia
title_fullStr Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia
title_full_unstemmed Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia
title_short Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia
title_sort case report: whole genome sequencing identifies ccdc88c as a novel jak2 fusion partner in pediatric t-cell acute lymphoblastic leukemia
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871838/
https://www.ncbi.nlm.nih.gov/pubmed/36704135
http://dx.doi.org/10.3389/fped.2022.1082986
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