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SMARCB1 (INI-1) - Deficient sinonasal carcinoma: Report of two cases

Geetha Vasudevan1, Srilatha Parampalli Srinivas1, Bhavna Nayal1

  • 1Department of Pathology, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Indian Journal of Pathology & Microbiology
|April 20, 2023
PubMed

Insights

SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare cancer characterized by the loss of the SMARCB1 tumor suppressor gene. This aggressive tumor often presents at an advanced stage, requiring multimodal treatment including chemotherapy, radiotherapy, and surgery.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare malignancy.
  • It is defined by the loss of the SMARCB1 (INI-1) tumor suppressor gene.
  • This gene inactivation is linked to various malignant neoplasms with rhabdoid morphology.

Observation:

  • First reported in 2014, these tumors exhibit basaloid features with focal rhabdoid differentiation.
  • Histological findings include prominent necrosis and increased mitotic activity, indicating aggressive behavior.
  • Immunohistochemical staining reveals loss of SMARCB1 (INI-1) in neoplastic cell nuclei.

Findings:

  • These carcinomas are negative for INI-1 and NUT but positive for pancytokeratin.
  • Variable reactivity for squamous markers (p63) and neuroendocrine markers (synaptophysin) is observed.
  • Most patients present with locally advanced disease.

Implications:

  • The aggressive nature and advanced presentation necessitate aggressive treatment strategies.
  • Multimodal therapy combining chemotherapy, radiotherapy, and surgery is typically recommended.
  • Understanding the molecular basis (SMARCB1 deficiency) aids in diagnosis and potential therapeutic targets.
Keywords:
Maxillary sinus neoplasmsSMARCB1 proteinrhabdoid tumor

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