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<p>Primary intramedullary spinal cord lymphoma (PISCL) is a rare subtype of primary central nervous system lymphoma (PCNSL) that mimics other myelopathies, often leading to delayed diagnosis. Histopathological confirmation via spinal biopsy is the gold standard; however, spinal biopsies carry considerable risks. The<i> myeloid differentiation primary response gene 88</i> (<i>MYD88</i>) L265P mutation is highly specific for PCNSL and can be detected in the cerebrospinal fluid (CSF) by liquid biopsies. However, the utility of detecting <i>MYD88</i> L265P mutation in diagnosing PISCL still remains unclear. A 76-year-old woman presented with progressive right leg weakness, sensory deficits, and bowel and bladder dysfunctions. Spinal magnetic resonance imaging (MRI) revealed an intramedullary lesion from C7 to T12. Although the elevated levels of interleukin-10 and soluble interleukin-2 receptor in the CSF were suggestive of a lymphoma, flow cytometry failed to provide a definitive diagnosis. The <i>MYD88</i> L265P mutation was detected in the CSF. PISCL was diagnosed based on the results of the liquid biopsy, which was performed instead of a spinal biopsy owing to the associated risks of the latter. Treatment with rituximab, high-dose methotrexate, and focal radiotherapy was initiated. Posttreatment MRI showed lesion size reduction, and the <i>MYD88</i> mutation was undetectable in the CSF. However, the patient’s neurological deficits persisted despite tumor control, and she died 6&#xa0;months later due to general clinical deterioration. Our case demonstrates that the detection of <i>MYD88</i> mutations in the CSF can serve as a noninvasive diagnostic tool for PISCL, enabling early treatment while avoiding the risks associated with spinal biopsies. Liquid biopsy of the CSF provides a promising alternative for diagnosing PISCL. However, further studies are needed to validate the clinical utility of this diagnostic approach.</p>

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Successful treatment of primary intramedullary spinal cord lymphoma based on the molecular diagnosis of a MYD88 mutation in the cerebrospinal fluid: a case report

  • 期刊论文

  • 发表日期：

    2025年8月21日

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  • Takuma Aoki,
  • Makoto Ohno,
  • Shunsuke Yanagisawa,
  • Daisuke Kawauchi,
  • Takaki Omura,
  • Akiya Kawanishi,
  • Mai Honda-Kitahara,
  • Yoshitaka Narita

摘要

Primary intramedullary spinal cord lymphoma (PISCL) is a rare subtype of primary central nervous system lymphoma (PCNSL) that mimics other myelopathies, often leading to delayed diagnosis. Histopathological confirmation via spinal biopsy is the gold standard; however, spinal biopsies carry considerable risks. The myeloid differentiation primary response gene 88 (MYD88) L265P mutation is highly specific for PCNSL and can be detected in the cerebrospinal fluid (CSF) by liquid biopsies. However, the utility of detecting MYD88 L265P mutation in diagnosing PISCL still remains unclear. A 76-year-old woman presented with progressive right leg weakness, sensory deficits, and bowel and bladder dysfunctions. Spinal magnetic resonance imaging (MRI) revealed an intramedullary lesion from C7 to T12. Although the elevated levels of interleukin-10 and soluble interleukin-2 receptor in the CSF were suggestive of a lymphoma, flow cytometry failed to provide a definitive diagnosis. The MYD88 L265P mutation was detected in the CSF. PISCL was diagnosed based on the results of the liquid biopsy, which was performed instead of a spinal biopsy owing to the associated risks of the latter. Treatment with rituximab, high-dose methotrexate, and focal radiotherapy was initiated. Posttreatment MRI showed lesion size reduction, and the MYD88 mutation was undetectable in the CSF. However, the patient’s neurological deficits persisted despite tumor control, and she died 6 months later due to general clinical deterioration. Our case demonstrates that the detection of MYD88 mutations in the CSF can serve as a noninvasive diagnostic tool for PISCL, enabling early treatment while avoiding the risks associated with spinal biopsies. Liquid biopsy of the CSF provides a promising alternative for diagnosing PISCL. However, further studies are needed to validate the clinical utility of this diagnostic approach.