Osteosclerosis and Meningioma: Implicating the Tumor Suppressor Gene AMER1/WTX.

BACKGROUND/AIM: Meningiomas are common intracranial tumors with variable biological behavior and incompletely understood molecular drivers, particularly in sporadic cases.

CASE REPORT: We present a unique case of a 29-year-old female with osteosclerosis harboring a germline mutation in the AMER1 (also known as WTX) gene - a tumor suppressor known to regulate the Wnt/β-catenin signaling pathway - who subsequently developed a large convexity meningioma. The patient had no recognized risk factors for meningioma, such as cranial irradiation, familial syndromes, or hormone exposure. Given AMER1's established role in skeletal development and other malignancies, we propose that this mutation may represent a novel molecular event contributing to meningioma pathogenesis.

CONCLUSION

This case highlights the need for further research into AMER1's mechanistic role and its potential utility as a biomarker or therapeutic target in meningioma.