Targeted Next Generation Sequencing in anaplastic large cell lymphoma
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F18%3A00069777" target="_blank" >RIV/65269705:_____/18:00069777 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14740/18:00106177
Result on the web
<a href="http://phdretreat.ceitec.cz/ceitec-phd-and-postdoc-retreat-2018/" target="_blank" >http://phdretreat.ceitec.cz/ceitec-phd-and-postdoc-retreat-2018/</a>
DOI - Digital Object Identifier
—
Alternative languages
Result language
angličtina
Original language name
Targeted Next Generation Sequencing in anaplastic large cell lymphoma
Original language description
Anaplastic Large Cell Lymphoma (ALCL) is an aggressive CD30 positive non-Hodgking T-cell lymphoma. The World Health Organization (WHO) distinguishes ALCL in two dis-tinct entities: anaplastic lymphoma kinase (ALK)-positive characterized by t(2;5)(p23;q35) translocation encoding for the oncogenic tyrosine kinase nucleophos-min (NPM)-ALK fusion protein, and ALK-negative, lacking the ALK-translocation. Sev-eral works have been focused on the activity of NPM-ALK translocation in the genesis of ALCL, pointing out its oncogenic role. On the other hand, the pathogenesis of ALK-negative ALCL is still not completely elucidated. A systematic characterization of the genetic alterations driving ALCLs is still poor and further investigation in this direction are necessary. To investigate the genetic landscape in ALCL, a targeted next-genera-tion sequencing (NGS) gene panel, including coding exons of 275 genes, has been per-formed. ALK- ALCL has a worse prognosis than ALK+ ALCL and those patients harbor-ing a higher mutation rate. We confirmed the presence of STAT3 mutations in ALK- ALCL. Though TP53 is uncommon mutated in ALCL (<10%), we found TP53 mutated in ALK+ and ALK- ALCL patients, in particular in patients with severe prognosis. Other sin-gle nucleotide variations (SNVs) in cell cycle or DNA damage response pathways were found. These data improve the knowledge about the genetic landscape of ALCL, providing information about the status of a broad spectrum of genes involved in ALCL. The functionality of those mutations needs to be further investigate in relation of their role in ALCL progression.
Czech name
—
Czech description
—
Classification
Type
O - Miscellaneous
CEP classification
—
OECD FORD branch
10606 - Microbiology
Result continuities
Project
<a href="/en/project/LM2015091" target="_blank" >LM2015091: National Center for Medical Genomic</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů