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

J 2026

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

NEMEJCOVA, Kristýna; Nikola HAJKOVA; Michaela KENDALL BARTU; Adam SAFANDA; Marián SVAJDLER et al.

Základní údaje

Originální název

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

Autoři

Vydání

Modern Pathology, New York, Elsevier, 2026, 0893-3952

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30109 Pathology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 5.500 v roce 2024

Označené pro přenos do RIV

Ano

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

DICER1; immunohistochemistry; ovarian tumors; sex cord-stromal tumor

Štítky

14110230, 14110813, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 5. 5. 2026 10:51, Mgr. Tereza Miškechová

Anotace

V originále

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 >= 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 & Canadian Academy of Pathology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Návaznosti

LM2023033, projekt VaV

Název: Síť českých biobank

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, BBMRI.cz - Síť českých biobank

Citovat

NEMEJCOVA, Kristýna; Nikola HAJKOVA; Michaela KENDALL BARTU; Adam SAFANDA; Marián SVAJDLER; Tetiana SHATOKHINA; Jan LACO; Radoslav MATEJ; Jitka HAUSNEROVÁ; Jozef SKARDA; Monika NÁLEŽINSKÁ; Tomáš ZIMA a Pavel DUNDR. Evaluation of DICER1 Immunohistochemistry as a Potential Surrogate for Mutation Status in Ovarian Sex Cord-Stromal Tumors. Modern Pathology. New York: Elsevier, 2026, roč. 39, č. 5, s. 1-9. ISSN 0893-3952. Dostupné z: https://doi.org/10.1016/j.modpat.2026.100990.

@article{2570560,
   author = {Nemejcova, Kristýna and Hajkova, Nikola and Kendall Bartu, Michaela and Safanda, Adam and Svajdler, Marián and Shatokhina, Tetiana and Laco, Jan and Matej, Radoslav and Hausnerová, Jitka and Skarda, Jozef and Náležinská, Monika and Zima, Tomáš and Dundr, Pavel},
   article_location = {New York},
   article_number = {5},
   doi = {https://doi.org/10.1016/j.modpat.2026.100990},
   keywords = {DICER1; immunohistochemistry; ovarian tumors; sex cord-stromal tumor},
   language = {eng},
   issn = {0893-3952},
   journal = {Modern Pathology},
   title = {Evaluation of DICER1 Immunohistochemistry as a Potential Surrogate for Mutation Status in Ovarian Sex Cord-Stromal Tumors},
   url = {https://www.sciencedirect.com/science/article/abs/pii/S0893395226000335?via%3Dihub},
   volume = {39},
   year = {2026}
}

TY  - JOUR
ID  - 2570560
AU  - Nemejcova, Kristýna - Hajkova, Nikola - Kendall Bartu, Michaela - Safanda, Adam - Svajdler, Marián - Shatokhina, Tetiana - Laco, Jan - Matej, Radoslav - Hausnerová, Jitka - Skarda, Jozef - Náležinská, Monika - Zima, Tomáš - Dundr, Pavel
PY  - 2026
TI  - Evaluation of DICER1 Immunohistochemistry as a Potential Surrogate for Mutation Status in Ovarian Sex Cord-Stromal Tumors
JF  - Modern Pathology
VL  - 39
IS  - 5
SP  - 1-9
EP  - 1-9
PB  - Elsevier
SN  - 08933952
KW  - DICER1
KW  - immunohistochemistry
KW  - ovarian tumors
KW  - sex cord-stromal tumor
UR  - https://www.sciencedirect.com/science/article/abs/pii/S0893395226000335?via%3Dihub
N2  - 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 >= 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 & Canadian Academy of Pathology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
ER  -

NEMEJCOVA, Kristýna; Nikola HAJKOVA; Michaela KENDALL BARTU; Adam SAFANDA; Marián SVAJDLER; Tetiana SHATOKHINA; Jan LACO; Radoslav MATEJ; Jitka HAUSNEROVÁ; Jozef SKARDA; Monika NÁLEŽINSKÁ; Tomáš ZIMA a Pavel DUNDR. Evaluation of DICER1 Immunohistochemistry as a Potential Surrogate for Mutation Status in Ovarian Sex Cord-Stromal Tumors. \textit{Modern Pathology}. New York: Elsevier, 2026, roč.~39, č.~5, s.~1-9. ISSN~0893-3952. Dostupné z: https://doi.org/10.1016/j.modpat.2026.100990.

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