Evaluation of DICER1 Immunohistochemistry as a Potential Surrogate for Mutation Status in Ovarian Sex Cord-Stromal Tumors

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F26%3A10001436" target="_blank" >RIV/00064190:_____/26:10001436 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1016/j.modpat.2026.100990" target="_blank" >https://doi.org/10.1016/j.modpat.2026.100990</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.modpat.2026.100990" target="_blank" >10.1016/j.modpat.2026.100990</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Evaluation of DICER1 Immunohistochemistry as a Potential Surrogate for Mutation Status in Ovarian Sex Cord-Stromal Tumors

Popis výsledku v původním jazyce

Diagnosing ovarian sex cord-stromal tumors can be difficult in some cases due to the overlapping morphologic and immunohistochemical (IHC) features, especially for adult granulosa cell tumors (AGCTs), juvenile granulosa cell tumors (JGCTs), Sertoli-Leydig cell tumors (SLCTs), and thecomas. In such situations, molecular testing can be helpful, as these tumors are often associated with specific genetic alterations. SLCTs, for instance, are known to be associated with DICER1 mutations. However, expression of DICER1 has not yet been systematically investigated in sex cord-stromal tumors. We evaluated the potential use of DICER1 IHC for detecting DICER1 mutations in ovarian sex cord-stromal tumors, including 267 AGCTs, 38 SLCTs, 5 JGCTs, and 21 Leydig cell tumors/steroid cell tumors (SCTs). Specifically, DICER1 positivity was found in 21 of 38 (55.3%) of SLCTs and 16 of 21 (76.2%) of SCTs. All DICER1-positive moderately differentiated SLCTs harbored a DICER1 mutation. One DICER1-negative moderately differentiated SLCT carried 2 DICER1 mutations. Additionally, 3 of 10 well-differentiated SLCTs showed IHC positivity. No SCT harbored a DICER1 mutation. Among AGCTs, 4 of 267 (1.5%) were DICER1 positive, and 1 of these cases harbored 2 DICER1 mutations. No JGCT demonstrated a DICER1 mutation or expression. In cases with both analyses available, DICER1 expression was found in 39 of 273 (14.3%), whereas 21 of 273 (7.7%) harbored a DICER1 mutation. Using an optimal cutoff of &gt;= 10% positive tumor cells, IHC closely matched mutational status (sensitivity of 90.5%, specificity of 92.1%). Our study found substantial concordance between DICER1 IHC and mutation status in a subset of sex cord-stromal tumors, suggesting that IHC detection of DICER1 protein may serve as a useful surrogate marker for DICER1 mutation, especially in SLCTs and AGCTs. This could be particularly valuable in settings where molecular testing is limited by cost and/or availability. However, in SCTs, the DICER1 expression is common but unrelated to DICER1 mutation. This suggests that alternative mechanisms, potentially involving androgen-related pathways, may contribute to DICER1 expression in these tumors. (c) 2026 United States &amp; Canadian Academy of Pathology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Název v anglickém jazyce

Evaluation of DICER1 Immunohistochemistry as a Potential Surrogate for Mutation Status in Ovarian Sex Cord-Stromal Tumors

Popis výsledku anglicky

Diagnosing ovarian sex cord-stromal tumors can be difficult in some cases due to the overlapping morphologic and immunohistochemical (IHC) features, especially for adult granulosa cell tumors (AGCTs), juvenile granulosa cell tumors (JGCTs), Sertoli-Leydig cell tumors (SLCTs), and thecomas. In such situations, molecular testing can be helpful, as these tumors are often associated with specific genetic alterations. SLCTs, for instance, are known to be associated with DICER1 mutations. However, expression of DICER1 has not yet been systematically investigated in sex cord-stromal tumors. We evaluated the potential use of DICER1 IHC for detecting DICER1 mutations in ovarian sex cord-stromal tumors, including 267 AGCTs, 38 SLCTs, 5 JGCTs, and 21 Leydig cell tumors/steroid cell tumors (SCTs). Specifically, DICER1 positivity was found in 21 of 38 (55.3%) of SLCTs and 16 of 21 (76.2%) of SCTs. All DICER1-positive moderately differentiated SLCTs harbored a DICER1 mutation. One DICER1-negative moderately differentiated SLCT carried 2 DICER1 mutations. Additionally, 3 of 10 well-differentiated SLCTs showed IHC positivity. No SCT harbored a DICER1 mutation. Among AGCTs, 4 of 267 (1.5%) were DICER1 positive, and 1 of these cases harbored 2 DICER1 mutations. No JGCT demonstrated a DICER1 mutation or expression. In cases with both analyses available, DICER1 expression was found in 39 of 273 (14.3%), whereas 21 of 273 (7.7%) harbored a DICER1 mutation. Using an optimal cutoff of &gt;= 10% positive tumor cells, IHC closely matched mutational status (sensitivity of 90.5%, specificity of 92.1%). Our study found substantial concordance between DICER1 IHC and mutation status in a subset of sex cord-stromal tumors, suggesting that IHC detection of DICER1 protein may serve as a useful surrogate marker for DICER1 mutation, especially in SLCTs and AGCTs. This could be particularly valuable in settings where molecular testing is limited by cost and/or availability. However, in SCTs, the DICER1 expression is common but unrelated to DICER1 mutation. This suggests that alternative mechanisms, potentially involving androgen-related pathways, may contribute to DICER1 expression in these tumors. (c) 2026 United States &amp; Canadian Academy of Pathology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30204 - Oncology

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2026

Kód důvěrnosti údajů

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

Název periodika

Modern Pathology

ISSN

0893-3952

e-ISSN

1530-0285

Svazek periodika

39

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

9

Strana od-do

nestránkováno

Kód UT WoS článku

001740081700001

EID výsledku v databázi Scopus

2-s2.0-105034676080