Abstract
Paraneoplastic cerebellar degeneration associated with somatic mutations in ultra-early diagnosis of small cell lung cancer: a case report
Highlights
Anti-CV2 antibodies, known as anti-CRMP5 antibodies, are well-established biomarkers of paraneoplastic cerebellar degeneration (PCD) associated with small cell lung cancer (SCLC), thymoma, and probably prostatic adenocarcinoma[4]
The cancer-driven mutations were captured at the first visit by next-generation sequencing technology in cerebrospinal fluid (CSF), and the results showed that eight genes (TSC2, DNMT1, CIC, FGF6, NSD1, TSHR, CRLF2, and EPPK1) had high-frequency mutations
Given that PCD is associated with uncommon neuroendocrine tumors, such as SCLC, breast cancer, and prostate cancer, the possibility of malignancy in patients with a subacute cerebellar syndrome should be considered and excluded by clinicians
Summary
As an autoimmune-mediated complication of cancer, paraneoplastic cerebellar degeneration (PCD) is associated with tumors such as lung cancer, gynecologic and breast cancers, and Hodgkin lymphoma[1]. A 75-year-old man presented with a four-month history suggestive of progressive cerebellar symptoms in the form of nausea, vomiting, unsteadiness upon walking, unclear speech, and occasional choking when drinking water. He was treated in a local hospital. The cerebrospinal fluid (CSF) biochemical test showed a protein level of 0.5 g/L (the rest is unknown) at this time He was admitted to our hospital on four occasions subsequently. The cancer-driven mutations were captured at the first visit by next-generation sequencing technology in CSF, and the results showed that eight genes (TSC2, DNMT1, CIC, FGF6, NSD1, TSHR, CRLF2, and EPPK1) had high-frequency mutations.
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