Hyalinizing trabecular tumor of the thyroid: Interest of GLIS3 immunohistochemical study to detect PAX8::GLIS3 rearrangement

IF 2.7 2区医学 Q2 PATHOLOGY

Human pathology Pub Date : 2025-03-01 DOI:10.1016/j.humpath.2025.105761

Ziyad Alsugair , Francoise Descotes , Jonathan Lopez , Myriam Decaussin-Petrucci

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引用次数: 0

Abstract

Background

& Objective: Hyalinizing trabecular tumor of the thyroid (HTT) is a rare, low-risk neoplasm that poses diagnostic challenges. Very recently, PAX8::GLIS3 rearrangements were found to characterize HTT. We aimed to explore HTT's genetic profile, focusing on PAX8::GLIS3 rearrangements and GLIS3 immunohistochemical staining.

Methods

We conducted a retrospective study involving 8 cases histologically diagnosed as HTT. RNA sequencing and immunohistochemical staining for GLIS3 were performed on all cases.

Results

The study included five females and three males, with a tumor size ranging from 3 to 45 mm. RNA sequencing analysis showed PAX8::GLIS3 rearrangement in 6 cases (86 %). No other molecular alterations were found. However, one case failed due to the tissue quality, and one case did not show any gene fusion. Immunohistochemical staining for GLIS3 revealed nuclear positive expression in tumor cells for all cases where gene fusion was detected (100 %). A control group of 20 HTT mimickers showed no immunostaining for GLIS 3.

Conclusion

Our study confirms the consistent presence of PAX8::GLIS3 rearrangement in hyalinizing trabecular tumor (HTT) of the thyroid. Additionally, our novel finding of GLIS3 expression via immunohistochemistry enhances diagnostic precision for these tumors. Notably, our series demonstrates the correlation between positive GLIS3 expression and detection of PAX8::GLIS3 fusion by RNA sequencing, potentially expediting HTT diagnosis.

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来源期刊

Human pathology 医学-病理学

CiteScore

5.30

自引率

6.10%

发文量

206

审稿时长

21 days

期刊介绍： Human Pathology is designed to bring information of clinicopathologic significance to human disease to the laboratory and clinical physician. It presents information drawn from morphologic and clinical laboratory studies with direct relevance to the understanding of human diseases. Papers published concern morphologic and clinicopathologic observations, reviews of diseases, analyses of problems in pathology, significant collections of case material and advances in concepts or techniques of value in the analysis and diagnosis of disease. Theoretical and experimental pathology and molecular biology pertinent to human disease are included. This critical journal is well illustrated with exceptional reproductions of photomicrographs and microscopic anatomy.