| Autor: |
Gabriele Lo Iudice, Eleonora De Bellis, Arianna Savi, Luca Guarnera, Alice Massacci, Francesca De Nicola, Frauke Goeman, Tiziana Ottone, Mariadomenica Divona, Matteo Pallocca, Maurizio Fanciulli, Maria Teresa Voso, Gennaro Ciliberto |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-6 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1479-5876 |
| DOI: |
10.1186/s12967-022-03486-5 |
| Popis: |
Abstract Acute Myeloid Leukaemia (AML) is a haematological malignancy showing a hypervariable landscape of clinical outcomes and phenotypic differences, explainable by heterogeneity at the cellular and molecular level. Among the most common genomic alterations, CBFB-MYH11 rearrangement and FLT3-ITD gene mutations, have opposite clinical significance and are unfrequently associated. We present here a Molecular Case Report in which these two events co-exist an ultra-aggressive phenotype resulting in death in 4 days from hospital admittance. Somatic and germline Whole Exome Sequencing analysis was performed to uncover other putative driver mutations, de-novo genomic structural events or germline clusters increasing cancer insurgence. Only three mutations in LTK, BCAS2 and LGAS9 were found, unlikely causative of the exhibited phenotype, prompting to additional investigation of the rare CBFB-MYH11/ FLT3-ITD scenario. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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