SMARCA4-deficient undifferentiated lung cancer with pleural disease and later spinal metastasis

This lung cancer diagnosis at a glance

Stage at diagnosis
Stage IV
Subtype
Non-Small Cell Lung Cancer
Biomarkers
BRCA1 p.S1796 variant; TP53 p.V274A; tumor mutational burden 12.6
Sex
male
Spread to
spine
Treatment
chemotherapy, immunotherapy and surgery
Outcome
Setback / Progression

Treatment course, step by step

  1. Received 6 cycles of carboplatin plus paclitaxel, with stable disease in the right chest.
  2. Switched to nivolumab when shortness of breath worsened.
  3. After a new spinal metastasis caused cord compression, underwent neurosurgical resection.

What happened, in summary

A 40-year-old man with a smoking history presented with several weeks of shortness of breath. CT imaging showed numerous masses and plaques along the right pleura, a pleural effusion and extensive chest lymph-node disease. Biopsy identified SMARCA4-deficient undifferentiated non-small cell lung cancer. Molecular testing found BRCA1 and TP53 variants, and the tumor mutational burden was 12.6. He received 6 cycles of carboplatin plus paclitaxel, and follow-up imaging showed stable disease confined to the right chest. When shortness of breath worsened, treatment was changed to nivolumab. After one cycle, he developed weakness. MRI then found a new 4.5 cm mass in the spine causing spinal-cord compression. Neurosurgical removal confirmed that the spinal lesion was metastatic SMARCA4-deficient lung cancer. The new distant spread represented clear progression, and further outpatient treatment was planned.

Where this story comes from

This is a lay summary of an account first published by PMC / PubMed Central. Read the original in full

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