Glycoprotein nonmetastatic melanoma protein b immunohistochemistry can be a useful ancillary tool to diagnose subependymal giant cell astrocytoma

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F27283933%3A_____%2F25%3AN0000015" target="_blank" >RIV/27283933:_____/25:N0000015 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/61383082:_____/25:00001516

Výsledek na webu

<a href="https://pubmed.ncbi.nlm.nih.gov/40419674/" target="_blank" >https://pubmed.ncbi.nlm.nih.gov/40419674/</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00428-025-04110-9" target="_blank" >10.1007/s00428-025-04110-9</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Glycoprotein nonmetastatic melanoma protein b immunohistochemistry can be a useful ancillary tool to diagnose subependymal giant cell astrocytoma

Popis výsledku v původním jazyce

Subependymal giant cell astrocytoma (SEGA) is a World Health Organization Central Nervous System grade 1 tumor, strongly associated with tuberous sclerosis complex (TSC). Recent research indicates that Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB), regulated by microphthalmia (MiT) family transcription factors may also be modulated by loss-of-function mutations in TSC1/2. We evaluated GPNMB as a diagnostic marker of subependymal giant cell astrocytoma (SEGA). A total of 11 patients with SEGA were included in the study. The control group comprised 185 primary central nervous system tumors, including high-grade and low-grade gliomas and glioneuronal/neuronal tumors. Strong and diffuse (≥ 50% of tumor cells) GPNMB expression was present in all SEGAs. In contrast, TTF-1 expression was detected in nine SEGAs, resulting in a sensitivity of 81.8%. Among the control group, 77 cases (41.6%) were negative for GPNMB and 102 (55.1%) cases were scored as > 1% < 50% positive. Only six control tissues (3.2%) showed diffuse and strong GPNMB expression. Among the tumors with strong GPNMB expression, there were three glioblastomas (GBMs) with morphology potentially mimicking SEGA but lacking TSC1, TSC2, or MTOR mutations. Using a cutoff of diffuse (≥ 50%) and strong positivity, GPNMB demonstrated 100% sensitivity (95% confidence interval: 74.1%-100%) and 96.8% specificity (95% confidence interval: 93.1%-98.5%) for diagnosing SEGA.

Název v anglickém jazyce

Glycoprotein nonmetastatic melanoma protein b immunohistochemistry can be a useful ancillary tool to diagnose subependymal giant cell astrocytoma

Popis výsledku anglicky

Subependymal giant cell astrocytoma (SEGA) is a World Health Organization Central Nervous System grade 1 tumor, strongly associated with tuberous sclerosis complex (TSC). Recent research indicates that Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB), regulated by microphthalmia (MiT) family transcription factors may also be modulated by loss-of-function mutations in TSC1/2. We evaluated GPNMB as a diagnostic marker of subependymal giant cell astrocytoma (SEGA). A total of 11 patients with SEGA were included in the study. The control group comprised 185 primary central nervous system tumors, including high-grade and low-grade gliomas and glioneuronal/neuronal tumors. Strong and diffuse (≥ 50% of tumor cells) GPNMB expression was present in all SEGAs. In contrast, TTF-1 expression was detected in nine SEGAs, resulting in a sensitivity of 81.8%. Among the control group, 77 cases (41.6%) were negative for GPNMB and 102 (55.1%) cases were scored as > 1% < 50% positive. Only six control tissues (3.2%) showed diffuse and strong GPNMB expression. Among the tumors with strong GPNMB expression, there were three glioblastomas (GBMs) with morphology potentially mimicking SEGA but lacking TSC1, TSC2, or MTOR mutations. Using a cutoff of diffuse (≥ 50%) and strong positivity, GPNMB demonstrated 100% sensitivity (95% confidence interval: 74.1%-100%) and 96.8% specificity (95% confidence interval: 93.1%-98.5%) for diagnosing SEGA.

Druh

J_ost - Ostatní články v recenzovaných periodicích

CEP obor

—

OECD FORD obor

30109 - Pathology

Projekt

—

Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2025

Kód důvěrnosti údajů

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

Název periodika

Virchows Archiv

ISSN

0945-6317

e-ISSN

1432-2307

Svazek periodika

neuveden

Číslo periodika v rámci svazku

27.5.2025

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

9

Strana od-do

—

Kód UT WoS článku

001495248300001

EID výsledku v databázi Scopus

2-s2.0-105006452675