"Molecular" resection margins in squamous cell carcinoma of the orofacial region

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F62157124%3A16170%2F21%3A43879477" target="_blank" >RIV/62157124:16170/21:43879477 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

"Molecular" resection margins in squamous cell carcinoma of the orofacial region

Popis výsledku v původním jazyce

Squamous cell carcinoma of the head and neck (SCC) originates from the mucosal lining of the upper aero-digestive tract. Almost half of the newly diagnosed cases are classified as disease stage IV, which makes resection difficult. Despite the careful resection of the tumor including the safety margins, the relapse is a frequent complication. Here, we focused on sensitive mutation analysis of tumors including resection margins to improve the prediction of relapse. DNA was isolated from 20 patients (tumor, peripheral blood and margins from all patients). Sequencing was performed on Illumina platform using a panel of 88 cancer genes. In tumors, we found 21 mutated genes, where most of them (70%) were tumor suppressor genes involved in DNA repair pathway (e.g. TP53, MLHL, BRCA1, BRCA2). Median mutation load was 2 mutated genes per patient; this parameter did not correlate with the presence of relapse of the disease or with the presence of risk factors like perineural invasion or lymphovascular invasion. Tumor margins possessed tumor mutations in 4 cases (20%) and surprisingly not all of them correlated with histopathological assessment. Our analysis of somatic mutations in OSCC tumors and tumor margins represents the biggest cohort of European patients. The range of the described mutations was similar to previous studies with the exception of mutations in BRCA genes, which have not been previously identified.

Název v anglickém jazyce

"Molecular" resection margins in squamous cell carcinoma of the orofacial region

Popis výsledku anglicky

Squamous cell carcinoma of the head and neck (SCC) originates from the mucosal lining of the upper aero-digestive tract. Almost half of the newly diagnosed cases are classified as disease stage IV, which makes resection difficult. Despite the careful resection of the tumor including the safety margins, the relapse is a frequent complication. Here, we focused on sensitive mutation analysis of tumors including resection margins to improve the prediction of relapse. DNA was isolated from 20 patients (tumor, peripheral blood and margins from all patients). Sequencing was performed on Illumina platform using a panel of 88 cancer genes. In tumors, we found 21 mutated genes, where most of them (70%) were tumor suppressor genes involved in DNA repair pathway (e.g. TP53, MLHL, BRCA1, BRCA2). Median mutation load was 2 mutated genes per patient; this parameter did not correlate with the presence of relapse of the disease or with the presence of risk factors like perineural invasion or lymphovascular invasion. Tumor margins possessed tumor mutations in 4 cases (20%) and surprisingly not all of them correlated with histopathological assessment. Our analysis of somatic mutations in OSCC tumors and tumor margins represents the biggest cohort of European patients. The range of the described mutations was similar to previous studies with the exception of mutations in BRCA genes, which have not been previously identified.

Druh

O - Ostatní výsledky

CEP obor

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OECD FORD obor

40301 - Veterinary science

Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2021

Kód důvěrnosti údajů

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