Intracranial hematolymphoid malignancies: A case series with molecular characterization

Clin Neurol Neurosurg. 2023 Oct:233:107928. doi: 10.1016/j.clineuro.2023.107928. Epub 2023 Aug 4.


Objective: Central nervous system (CNS) manifestations of hematologic malignancies are uncommon and often have a poor prognosis. As hematologic neoplasms are typically chemotherapy- and radiotherapy-sensitive, surgical resection is usually not indicated; thus, opportunities for in-depth characterization of CNS hematologic tumors are limited. Here, we report four cases of rare intracranial hematologic tumors requiring surgical intervention, allowing for histopathologic and genomic characterization.

Methods: The clinical course, genetic perturbations, and histopathological features are described for a case of 1) primary marginal zone B-cell lymphoma of the dura as well as cases of brain metastases of 2) cutaneous T-cell lymphoma, 3) acute myeloid leukemia/myeloid sarcoma, and 4) multiple myeloma. Targeted DNA sequencing, fluorescence in situ hybridization, cytogenetic analysis, flow cytometry and immunohistochemical staining were used to assess the lesions.

Result: Molecular and histopathological characterizations of four unusual presentations of hematolymphoid diseases involving the CNS are presented. Genetic abnormalities were identified in each lesion, including chromosomal aberrations and single nucleotide variants resulting in missense or nonsense mutations in oncogenes.

Conclusions: Our case series provides insight into unique pathological phenotypes of hematologic neoplasms with atypical CNS involvement. We offer targets for future studies by identifying potentially pathogenic genetic variants in these lesions, as the full implications of the novel molecular abnormalities described remain unclear.

Keywords: Hematologic neoplasm; Immunohistochemistry; Neuro-oncology; Tumor genetics; acute myeloid sarcoma; cutaneous T cell lymphoma; hematological brain metastases; marginal zone B cell lymphoma; multiple myeloma.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms* / genetics
  • Central Nervous System Neoplasms*
  • Hematologic Neoplasms* / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphoma, B-Cell, Marginal Zone* / genetics
  • Lymphoma, B-Cell, Marginal Zone* / pathology
  • Multiple Myeloma*