Targeted Next Generation Sequencing in anaplastic large cell lymphoma

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14740/18:00106177

Výsledek na webu

<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

—

Jazyk výsledku

angličtina

Název v původním jazyce

Targeted Next Generation Sequencing in anaplastic large cell lymphoma

Popis výsledku v původním jazyce

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 (&lt;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.

Název v anglickém jazyce

Targeted Next Generation Sequencing in anaplastic large cell lymphoma

Popis výsledku anglicky

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 (&lt;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.

Druh

O - Ostatní výsledky

CEP obor

—

OECD FORD obor

10606 - Microbiology

Projekt

<a href="/cs/project/LM2015091" target="_blank" >LM2015091: Národní centrum lékařské genomiky</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů