Salivary Gland Mucinous Adenocarcinoma With Minor (Mammary Analogue) Secretory and Low-Grade In Situ Carcinoma Components Sharing the Same ETV6-RET Translocation and With No Other Molecular Genetic Aberrations Detected on NGS Analysis

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F20%3A10414262" target="_blank" >RIV/00216208:11140/20:10414262 - isvavai.cz</a>

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=ahNs400vqR" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=ahNs400vqR</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/PAI.0000000000000806" target="_blank" >10.1097/PAI.0000000000000806</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Salivary Gland Mucinous Adenocarcinoma With Minor (Mammary Analogue) Secretory and Low-Grade In Situ Carcinoma Components Sharing the Same ETV6-RET Translocation and With No Other Molecular Genetic Aberrations Detected on NGS Analysis

Popis výsledku v původním jazyce

In 2016, we published in this journal a hitherto undescribed composite salivary gland carcinoma arising in the left parotid gland in a 54-year-old woman. The tumor had a minor mammary analogue secretory carcinoma component (MASC), with a morphologically entirely different mucinous adenocarcinomatous component and a focal, morphologically nondescript, low-grade intraductal (in situ) component. On fluorescence in situ hybridization (FISH), w detected breaks in the ETV6 gene in all the 3 different components. However, RT-PCR failed to reveal an ETV6-NTRK3 fusion. On immunohistochemistry, the entire conventional MASC and patchy mucinous adenocarcinoma tumor cells expressed mammaglobin, while the in situ component was negative. S-100 protein was only expressed by the MASC component. Using the TruSight tumor 170 assay (Illumina, San Diego, CA) on the NextSEq. 500 sequencer (Illumina) following the usual manufacturer&apos;s protocols, we have subsequently further analyzed the in situ and invasive component (MASC mixed with mucinous adenocarcinoma components) separately. This molecular genetic study revealed the same ETV6-RET fusion (exon joining 6 to 12) in both samples. No other molecular genetic aberrations were identified in the applied panel, which consists of 170 genes. The complete list of genes and mutations covered by this assay is shown in Supplemental Table 1.

Název v anglickém jazyce

Salivary Gland Mucinous Adenocarcinoma With Minor (Mammary Analogue) Secretory and Low-Grade In Situ Carcinoma Components Sharing the Same ETV6-RET Translocation and With No Other Molecular Genetic Aberrations Detected on NGS Analysis

Popis výsledku anglicky

In 2016, we published in this journal a hitherto undescribed composite salivary gland carcinoma arising in the left parotid gland in a 54-year-old woman. The tumor had a minor mammary analogue secretory carcinoma component (MASC), with a morphologically entirely different mucinous adenocarcinomatous component and a focal, morphologically nondescript, low-grade intraductal (in situ) component. On fluorescence in situ hybridization (FISH), w detected breaks in the ETV6 gene in all the 3 different components. However, RT-PCR failed to reveal an ETV6-NTRK3 fusion. On immunohistochemistry, the entire conventional MASC and patchy mucinous adenocarcinoma tumor cells expressed mammaglobin, while the in situ component was negative. S-100 protein was only expressed by the MASC component. Using the TruSight tumor 170 assay (Illumina, San Diego, CA) on the NextSEq. 500 sequencer (Illumina) following the usual manufacturer&apos;s protocols, we have subsequently further analyzed the in situ and invasive component (MASC mixed with mucinous adenocarcinoma components) separately. This molecular genetic study revealed the same ETV6-RET fusion (exon joining 6 to 12) in both samples. No other molecular genetic aberrations were identified in the applied panel, which consists of 170 genes. The complete list of genes and mutations covered by this assay is shown in Supplemental Table 1.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30109 - Pathology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

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

Název periodika

Applied Immunohistochemistry &amp; Molecular Morphology

ISSN

1541-2016

e-ISSN

—

Svazek periodika

28

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

"E54"-"E57"

Kód UT WoS článku

000561310100017

EID výsledku v databázi Scopus

2-s2.0-85072326403