Article ; Online: Intracranial hematolymphoid malignancies: A case series with molecular characterization.
Clinical neurology and neurosurgery
2023 Volume 233, Page(s) 107928
Abstract: ... primary marginal zone B-cell lymphoma of the dura as well as cases of brain metastases of 2) cutaneous T ...
| Abstract | 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. |
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| MeSH term(s) | Humans ; In Situ Hybridization, Fluorescence ; Hematologic Neoplasms/genetics ; Multiple Myeloma ; Lymphoma, B-Cell, Marginal Zone/genetics ; Lymphoma, B-Cell, Marginal Zone/pathology ; Central Nervous System Neoplasms ; Brain Neoplasms/genetics |
| Language | English |
| Publishing date | 2023-08-04 |
| Publishing country | Netherlands |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 193107-6 |
| ISSN | 1872-6968 ; 0303-8467 |
| ISSN (online) | 1872-6968 |
| ISSN | 0303-8467 |
| DOI | 10.1016/j.clineuro.2023.107928 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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