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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| Hauptverfasser: | , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
April 2023
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| In: |
Cancer genetics
Year: 2023, Jahrgang: 272-273, Pages: 29-34 |
| ISSN: | 2210-7770 |
| DOI: | 10.1016/j.cancergen.2023.01.002 |
| Online-Zugang: | 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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| Verfasserangaben: | 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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| 245 | 1 | 0 | |a Rare and potentially fatal |b cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children |c 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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| 500 | |a Online veröffentlicht: 7. Januar 2023, Artikelversion: 17. Januar 2023 | ||
| 500 | |a Gesehen am 20.03.2024 | ||
| 520 | |a 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. | ||
| 650 | 4 | |a Eosinophilia | |
| 650 | 4 | |a Fusion gene | |
| 650 | 4 | |a MLN-eo | |
| 650 | 4 | |a Tyrosine kinase inhibitor | |
| 700 | 1 | |a Flaadt, Tim |e VerfasserIn |4 aut | |
| 700 | 1 | |a Behrens, Yvonne Lisa |e VerfasserIn |4 aut | |
| 700 | 1 | |a Yoshimi, Ayami |e VerfasserIn |4 aut | |
| 700 | 1 | |a Leipold, Alfred |e VerfasserIn |4 aut | |
| 700 | 1 | |a Holzer, Ursula |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lang, Peter |e VerfasserIn |4 aut | |
| 700 | 1 | |a Quintanilla-Martinez, Leticia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schlegelberger, Brigitte |e VerfasserIn |4 aut | |
| 700 | 1 | |a Reiter, Andreas |d 1964- |e VerfasserIn |0 (DE-588)172629551 |0 (DE-627)697563766 |0 (DE-576)133488594 |4 aut | |
| 700 | 1 | |a Niemeyer, Charlotte |e VerfasserIn |4 aut | |
| 700 | 1 | |a Strahm, Brigitte |e VerfasserIn |4 aut | |
| 700 | 1 | |a Göhring, Gudrun |e VerfasserIn |4 aut | |
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