SMARCB1 (INI1)-deficient malignant melanocytic neoplasm with histologically confirmed vertebral metastases in a young adult: a case report - Takeaways - MDSpire

SMARCB1 (INI1)-deficient malignant melanocytic neoplasm with histologically confirmed vertebral metastases in a young adult: a case report

  • By

  • Ibrahim Al-Hassana

  • Lethongsavarn Vincent

  • Setcheou Alihonou

  • Sieleche Christian

  • Mahamadou Ango Souleymane

  • Rabhi Mohammed

  • Do Laurent

  • July 15, 2026

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  • 1

    A 21-year-old woman with progressive left retro-orbital pain was diagnosed with a malignant melanocytic neoplasm lacking SMARCB1.

  • 2

    Histopathological examination revealed a highly cellular malignant epithelioid neoplasm with focal rhabdoid features and marked cytologic atypia.

  • 3

    Immunohistochemistry showed complete loss of INI1 expression and positivity for S100, Melan-A, and focal HMB45.

  • 4

    The patient developed multifocal vertebral lesions one year after diagnosis, confirmed as metastases of the SMARCB1-deficient neoplasm.

  • 5

    Despite treatment with palliative radiotherapy and chemotherapy, the patient died three years after the initial diagnosis.

Original Source(s)

SMARCB1 (INI1)-deficient malignant melanocytic neoplasm with histologically confirmed vertebral metastases in a young adult: a case report

  • by Ibrahim Al-Hassana, Lethongsavarn Vincent, Setcheou Alihonou, Sieleche Christian, Mahamadou Ango Souleymane, Rabhi Mohammed, Do Laurent

  • July 15, 2026

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