The role of FOXL2, SOX9, and β-catenin expression and DICER1 mutation in differentiating sex cord tumor with annular tubules from other sex cord tumors of the ovary.
Biomarkers, Tumor
/ analysis
Case-Control Studies
DEAD-box RNA Helicases
/ genetics
DNA Mutational Analysis
Diagnosis, Differential
Female
Forkhead Box Protein L2
/ analysis
Granulosa Cell Tumor
/ chemistry
Humans
Immunohistochemistry
Mutation
Ovarian Neoplasms
/ chemistry
Predictive Value of Tests
Ribonuclease III
/ genetics
SOX9 Transcription Factor
/ analysis
Sertoli-Leydig Cell Tumor
/ chemistry
Sex Cord-Gonadal Stromal Tumors
/ chemistry
beta Catenin
/ analysis
DICER1
Immunohistochemistry
Ovary
Sex cord tumor
Sex cord tumor with annular tubules
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
received:
17
10
2020
accepted:
03
02
2021
revised:
22
01
2021
pubmed:
11
2
2021
medline:
10
9
2021
entrez:
10
2
2021
Statut:
ppublish
Résumé
Sex cord tumor with annular tubules (SCTAT) is a highly rare type of ovarian sex cord-stromal tumor (SCST), the diagnosis of which remains to be challenging. The aim of this study was to scrutinize the utility of three immunohistochemical markers including Forkhead box protein 2 (FOXL2), SOX9, and β-catenin and DICER1 mutation status in distinguishing SCTATs from other ovarian SCSTs. Nine cases of SCTAT, 10 Sertoli-Leydig cell tumor (SCLT), 10 adult-type granulosa cell tumor (AGCT), and 8 juvenile-type granulosa cell tumor (JGCT) were included in the study. SCTATs were characterized by diffuse and strong expression of SOX9, focal and weak expression of FOXL2, and the absence of DICER1 mutation. However, AGCTs and JGCTs displayed strong and diffuse expression of FOXL2, focal/no immunoreaction for SOX9. SLCTs generally showed moderate intensity of FOXL2 and SOX9 expression. Nuclear β-catenin expression was observed in none of SLCT, 1/9 of SCTAT, 6/8 JGCT, and 4/10 AGCT cases, respectively. DICER1 hotspot mutation was detected in only 3 cases of SLCT and 2 cases of JGCT. We conclude that in addition to strong and diffuse SOX9 expression, weak/absent expression of FOXL2 is suggestive for the diagnosis of SCTAT. Hence, we suggest that inclusion of these two markers, SOX-9 and FOXL2, to the immunohistochemical panel helps in differentiation of SCTAT from other SCSTs in addition to morphologic findings. We also conclude that SCTATs of the ovary do not harbor DICER1 hotspot mutation.
Identifiants
pubmed: 33566167
doi: 10.1007/s00428-021-03052-2
pii: 10.1007/s00428-021-03052-2
doi:
Substances chimiques
Biomarkers, Tumor
0
CTNNB1 protein, human
0
FOXL2 protein, human
0
Forkhead Box Protein L2
0
SOX9 Transcription Factor
0
SOX9 protein, human
0
beta Catenin
0
DICER1 protein, human
EC 3.1.26.3
Ribonuclease III
EC 3.1.26.3
DEAD-box RNA Helicases
EC 3.6.4.13
Types de publication
Comparative Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
317-324Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH, DE part of Springer Nature.
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