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Rare and potentially fatal: cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children

Myeloid/lymphoid neoplasms with eosinophilia (MLN-eos) are rare haematological neoplasms primarily affecting adults. The heterogeneous clinical picture and the rarity of the disease, especially in children, may delay an early diagnosis. MLN-eos are characterized by constitutive tyrosine kinase (TK)...

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Main Authors: Berking, Ann-Cathrine (Author) , Flaadt, Tim (Author) , Behrens, Yvonne Lisa (Author) , Yoshimi, Ayami (Author) , Leipold, Alfred (Author) , Holzer, Ursula (Author) , Lang, Peter (Author) , Quintanilla-Martinez, Leticia (Author) , Schlegelberger, Brigitte (Author) , Reiter, Andreas (Author) , Niemeyer, Charlotte (Author) , Strahm, Brigitte (Author) , Göhring, Gudrun (Author)
Format: Article (Journal)
Language:English
Published: April 2023
In: Cancer genetics
Year: 2023, Volume: 272-273, Pages: 29-34
ISSN:2210-7770
DOI:10.1016/j.cancergen.2023.01.002
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.cancergen.2023.01.002
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S2210776223000030
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Author Notes:Ann-Cathrine Berking, Tim Flaadt, Yvonne Lisa Behrens, Ayami Yoshimi, Alfred Leipold, Ursula Holzer, Peter Lang, Leticia Quintanilla-Martinez, Brigitte Schlegelberger, Andreas Reiter, Charlotte Niemeyer, Brigitte Strahm, Gudrun Göhring
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Summary:Myeloid/lymphoid neoplasms with eosinophilia (MLN-eos) are rare haematological neoplasms primarily affecting adults. The heterogeneous clinical picture and the rarity of the disease, especially in children, may delay an early diagnosis. MLN-eos are characterized by constitutive tyrosine kinase (TK) activity due to gene fusions. It is thus of importance to obtain a prompt genetic diagnosis to start a specific therapy. Here, we outline the clinical, genetic, and biochemical background of TK driven MLN-eos and report two extremely rare paediatric cases of MLN-eo, the used diagnostic methods, therapy and clinical outcomes. Our results demonstrate that, standard cytogenetic and molecular methods may not be sufficient to diagnose MLN-eo due to cytogenetically cryptic aberrations. We therefore recommend performing additional evaluation with fluorescence in-situ hybridization and molecular genetic methods (array-based comparative genomic hybridization and RNA sequencing) which will lead to the correct diagnosis. Following this diagnostic route we detected a TNIP1::PDGFRB and a PCM1::FGFR1 fusion in our patients. Thus, genetic diagnosis must be precise and quick in order to initiate adequate therapies with tyrosine kinase inhibitors or HSCT.
Item Description:Online veröffentlicht: 7. Januar 2023, Artikelversion: 17. Januar 2023
Gesehen am 20.03.2024
Physical Description:Online Resource
ISSN:2210-7770
DOI:10.1016/j.cancergen.2023.01.002

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