ArticleMedicine2025
Distinct genetic abnormalities in cerebrospinal fluid versus tumor tissue and plasma in a SCLC patient with leptomeningeal metastasis: A case report.
Article in Medicine, 2025. 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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5 authors.
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Abstract
rationaleLeptomeningeal metastasis (LM) in small cell lung cancer is rare, and the application of next-generation sequencing in these cases remains limited. PATIENT CONCERNS: This study presents a case of a small cell lung cancer patient who developed LM despite achieving a partial response in extracranial tumors. Notably, next-generation sequencing analysis of tumor tissue, blood, and cerebrospinal fluid (CSF) uniquely revealed an increased copy number of cyclin-dependent kinase 4 specifically in the CSF. DIAGNOSES: A lumbar puncture was performed, and pathological examination of the CSF confirmed small cell carcinoma.
interventionsThe patient received intrathecal methotrexate therapy and was scheduled promptly for whole-brain radiation therapy. OUTCOMES: Unfortunately, the patient passed away at home 3 days after discharge. LESSONS: This case underscores the importance of prompt diagnosis of small cell lung cancer with suspected LM through CSF cytology obtained via lumbar puncture. It also highlights the potential of CSF as a valuable liquid biopsy medium for tracking disease progression and treatment response in central nervous system malignancies, providing a basis for the development of targeted therapeutic strategies.
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