Intracranial hematolymphoid malignancies: A case series with molecular characterization

• Published in: Clinical neurology and neurosurgery Vol. 233; p. 107928
• Main Authors: Langston, Rebekah G., Pinckard-Dover, Heather, Guzman, Grace, Wardell, Christopher P., Gokden, Murat, Morris, T.W., Day, J.D., Rodriguez, Analiz
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.10.2023; Elsevier Limited
• Subjects: Acute myeloid leukemia; acute myeloid sarcoma; B-cell lymphoma; Biopsy; Blood cancer; Blood diseases; Brain cancer; Central nervous system; Chemotherapy; Chromosome aberrations; cutaneous T cell lymphoma; Cytogenetics; DNA sequencing; Flow cytometry; Fluorescence in situ hybridization; Genes; Genetic diversity; Hematologic neoplasm; hematological brain metastases; Immunohistochemistry; Kinases; Lesions; Leukemia; Lymphatic system; Lymphocytes B; Lymphocytes T; Lymphoma; Malignancy; marginal zone B cell lymphoma; Metastases; Metastasis; Multiple myeloma; Neuro-oncology; Neurology; Phenotypes; Plasma; Radiation; Radiation therapy; Sarcoma; Stains & staining; T-cell lymphoma; Tumor genetics; Tumors; Immunohistochemistry; marginal zone B cell lymphoma; multiple myeloma; acute myeloid sarcoma; hematological brain metastases; Neuro-oncology; Hematologic neoplasm; cutaneous T cell lymphoma; Tumor genetics
• ISSN: 0303-8467; 1872-6968
• DOI: 10.1016/j.clineuro.2023.107928

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. 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. 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. 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. •Detailed molecular descriptions of rare CNS hematolymphoid pathologies.•Identification of novel genetic perturbations in CNS hematologic lesions.•Tissue-based studies improve understanding of unusual neoplastic phenotypes.