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SMARCB1/INI1-deficient lung cancer with lymph node metastasis: a case report and literature review.


ABSTRACT:

Background

Switch/Sucrose non-fermentable-related, matrix-associated, actin-dependent regulator of chromatin subfamily B member 1/integrase interactor 1 (SMARCB1/INI1)-deficient lung cancer is a very rare and highly invasive malignant tumor, of which clinicians and pathologists often have limited understanding.

Case description

We present a 54-year-old man with SMARCB1/INI1-deficient lung cancer, pathologically confirmed by computed tomography guided percutaneous pulmonary mass biopsy and ultrasound-guided lymph node biopsy. Both lymphoids and lung tissues showed INI1 deletion and high Ki-67 index; next generation sequencing (NGS) indicated a tumor protein 53 (TP53) mutation abundance of 22.18% and cyclin-dependent kinase 4 (CDK4) amplification (copy number of

SUBMITTER: Yang X 

PROVIDER: S-EPMC12319588 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature