Abstract
The dura is a rare site of involvement by marginal zone lymphoma (MZL) and the biology of dural MZL is not well understood. We performed genome-wide DNA copy number and targeted mutational analysis of 14 dural MZL to determine the genetic landscape of this entity. Monoallelic and biallelic inactivation of TNFAIP3 by mutation (n=5) or loss (n=1) was observed in 6/9 (67%) dural MZL exhibiting plasmacytic differentiation, including 3 IgG4+ cases. In contrast, activating NOTCH2 mutations were detected in 4/5 (80%) dural MZL displaying variable monocytoid morphology. Inactivating TBL1XR1 mutations were identified in all NOTCH2 mutated cases. Recurrent mutations in KLHL6 (n=2) and MLL2 (n=2) were also detected. Gains at 6p25.3 (n=2) and losses at 1p36.32 (n=3) were common chromosomal imbalances, with loss of heterozygosity (LOH) of these loci observed in a subset of cases. Translocations involving the IGH or MALT1 genes were not identified. Our results indicate genetic similarities between dural MZL and other MZL subtypes. However, recurrent and mutually exclusive genetic alterations of TNFAIP3 and NOTCH2 appear to be associated with distinct disease phenotypes in dural MZL.
Highlights
Diffuse large B-cell lymphoma is the most common subtype of B-cell non-Hodgkin lymphoma (B-NHL) occurring in the central nervous system (CNS) [1]
A female predilection has been documented for dural marginal zone lymphoma (MZL), and since they often present as solitary masses, they can mimic meningioma’s clinically and on imaging studies [5,6,7]
Most patients are cured following excision and local adjuvant therapy but systemic recurrences have occasionally been reported [8]. Based on their morphologic and phenotypic features, primary dural MZLs are considered similar to mucosa-associated lymphoid tissue (MALT) lymphomas [5, 9]
Summary
Diffuse large B-cell lymphoma is the most common subtype of B-cell non-Hodgkin lymphoma (B-NHL) occurring in the central nervous system (CNS) [1]. The dura is a recognized but uncommon, primary site of occurrence of marginal zone lymphoma (MZL) and rare cases of intra-parenchymal MZLs, occurring in a perivascular location, have been described [3, 4]. A female predilection has been documented for dural MZLs, and since they often present as solitary masses, they can mimic meningioma’s clinically and on imaging studies [5,6,7]. Most patients are cured following excision and local adjuvant therapy but systemic recurrences have occasionally been reported [8]. Based on their morphologic and phenotypic features, primary dural MZLs are considered similar to mucosa-associated lymphoid tissue (MALT) lymphomas [5, 9]. Left-sided auditory Cranial Dura Solitary mass Surgery defects
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