ArticleFrontiers in oncology2026
SMARCB1 (INI1)-deficient malignant melanocytic neoplasm with histologically confirmed vertebral metastases in a young adult: a case report.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: SMARCB1 (INI1)-deficient tumors are rare aggressive neoplasms characterized by biallelic inactivation of the SMARCB1 gene and loss of nuclear INI1 protein expression. Although melanocytic differentiation has occasionally been reported in SMARCB1-deficient tumors, intraocular presentations with histologically confirmed vertebral metastases in adults remain exceptionally uncommon and diagnostically challenging. Case presentation: A 21-year-old woman presented with progressive left retro-orbital pain and visual impairment. Ophthalmologic imaging revealed a choroidal lesion initially suspected to represent uveal melanoma. Enucleation of the left eye demonstrated a highly cellular malignant epithelioid neoplasm arising in the choroid with focal spindle-cell areas, rhabdoid features, marked cytologic atypia, and focal melanocytic differentiation. Immunohistochemistry showed diffuse positivity for S100 and Melan-A, focal HMB45 expression, retained BAP1 expression, and complete loss of INI1 expression. Molecular analysis identified a pathogenic truncating SMARCB1 alteration, c.656C>G, p.(Ser219*), associated with homozygous deletion of the SMARCB1 locus. Additional testing revealed no pathogenic alterations involving canonical uveal melanoma-associated genes, including GNAQ, GNA11, CYSLTR2, SF3B1, EIF1AX, and BAP1. One year after diagnosis, the patient developed multifocal painful vertebral lesions. Histopathological examination of a T8 vertebral biopsy revealed a poorly differentiated malignant neoplasm with extensive necrosis and rhabdoid morphology. Tumor cells demonstrated diffuse S100 positivity, focal HMB45 expression, complete loss of INI1, and absence of epithelial or myogenic differentiation (negative cytokeratins, desmin, and myogenin). Expert pathology review supported metastatic dissemination of a SMARCB1-deficient malignant neoplasm with melanocytic differentiation. The patient received palliative radiotherapy (30 Gy in 10 fractions to D7-D9) followed by systemic chemotherapy with etoposide and ifosfamide. Despite multimodal treatment, progressive disease occurred and the patient died three years after the initial diagnosis. Conclusions: This case expands the clinicopathologic spectrum of SMARCB1-deficient tumors and highlights the diagnostic complexity of neoplasms exhibiting melanocytic differentiation. Integrated histopathologic, immunophenotypic, and molecular assessment is essential to avoid diagnostic misclassification, particularly in unusual intraocular presentations.
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