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February 22, 2026The Journal of Pathology1 citationsOpen Access

Clinicopathological significance of loss of Y chromosome in male meningiomas

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MSMaki SakaguchiKanazawa UniversityMHMasafumi HorieKanazawa UniversityYIYukinobu ItoKanazawa University

Key Points

  • The study aims to assess the impact of Y chromosome loss on tumor characteristics and outcomes in male meningiomas.
  • Analyzed 93 male meningioma samples for Y chromosome loss using droplet digital polymerase chain reaction and multiplex ligation-dependent probe amplification.
  • Evaluated tumor grades and NF2 gene protein retention.
  • Conducted RNA in situ hybridization targeting KDM5D for LOY detection.
  • Performed spatial transcriptomic analysis on tumor cells.
  • Y chromosome loss was detected in 9.7% of cases, significantly correlating with higher tumor grades.
  • Loss of NF2 gene-encoded protein (merlin) was more prevalent in LOY cases (88.9% vs 50.0%).
  • KDM5D detection showed 100% sensitivity for LOY with 76.2% specificity.
  • Distinct gene expression differences were observed related to epithelial–mesenchymal transition and extracellular matrix organization in LOY versus non-LOY tumors.

Abstract

Abstract Male meningiomas, comprising approximately 30% of all meningiomas, are more frequently high‐grade and associated with poorer clinical outcomes compared to their female counterparts. Although Y chromosome alterations have been studied in various male‐predominant tumors, a limited number of studies have evaluated their role in meningiomas. To evaluate the clinicopathological significance of Y chromosome loss in male meningiomas, we assessed the frequency of loss of the Y chromosome (LOY) using droplet digital polymerase chain reaction in combination with multiplex ligation‐dependent probe amplification on tumor DNA from 93 male meningioma samples. LOY, detected in nine cases (9.7%), was significantly associated with a higher World Health Organization tumor grade (grade 2: 55.6% versus 14.3%; grade 1: 44.4% versus 85.7%; p = 0.009) and loss of the NF2 gene‐encoded protein, moesin‐ezrin‐radixin‐like protein (merlin) (loss: 88.9% versus 50.0%; retained: 11.1% versus 50.0%; p = 0.035). RNA in situ hybridization targeting KDM5D on formalin‐fixed paraffin‐embedded tissue sections demonstrated a sensitivity of 100% (9/9) and a specificity of 76.2% (64/84) for LOY detection, supporting its utility as a screening modality. Moreover, spatial transcriptomic analysis revealed significant differences in the expression of genes associated with epithelial–mesenchymal transition and extracellular matrix organization between LOY and non‐LOY meningioma tumor cells. Our findings emphasize the presence of atypical pathological features and distinct transcriptional profiles in LOY‐associated meningiomas. © 2026 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

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Cite This Study

Sakaguchi et al. (2026) studied this question.

synapsesocial.com/papers/699a9d50482488d673cd31e8https://doi.org/10.1002/path.70040
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