Abstract
Anaplastic large cell lymphomas (ALCL) are mature T-cell neoplasms, approximately half of which harbor rearrangements of the ALK gene that confer a good prognosis. Recent studies have demonstrated that a significant proportion of ALK-negative ALCLs demonstrate rearrangements of the IRF4/DUSP22 locus that also are typically associated with a favorable prognosis. ALCL with primary involvement of the central nervous system (CNS) is extremely rare. We report what may be the first case of ALK-negative ALCL with IRF4/DUSP22 rearrangement involving the brain in a 55-year-old man. Magnetic resonance imaging demonstrated signal abnormalities in the periventricular region, corpus callosum and cingulate gyrus. Biopsy revealed a diffuse parenchymal and angiocentric infiltrate of CD30-positive cells that showed IRF4/DUSP22 rearrangement by fluorescence in situ hybridization. We also review the clinical and pathologic features of primary CNS ALK-negative ALCLs in the literature and highlight the need for awareness of this entity to optimize appropriate management.
Highlights
Anaplastic large cell lymphomas (ALCLs) are mature T-cell neoplasms expressing CD30, a lymphocyte activation marker [1–3]
Half of systemic ALCLs show translocations involving the anaplastic lymphoma kinase gene ALK on 2p23, which is associated with a good prognosis, partly due to ALK-positive ALCL being more common in children and young adults whereas ALKnegative ALCL peaks in middle age [1, 3]
The majority of primary central nervous system lymphomas (PCNSL), non-Hodgkin lymphomas restricted to the CNS, including brain, meninges, spinal cord or eye at presentation, are of the diffuse large B-cell type with T-cell lymphomas constituting less than 5% [13]
Summary
Anaplastic large cell lymphomas (ALCLs) are mature T-cell neoplasms expressing CD30, a lymphocyte activation marker [1–3]. Features were suspicious for a lymphoproliferative disorder, the sparsity of the atypical cells made definitive diagnosis challenging and limited molecular testing He was placed on corticosteroids, but subsequent MRI showed multifocal heterogeneous enhancement with progression of abnormal signals in some regions, with decreasing signals in others. A repeat brain biopsy of the corpus callosum and cingulate gyrus was performed 1.5 months later and showed an infiltrate of many large cells admixed with mediumsized and small lymphocytes in a perivascular and diffuse parenchymal distribution (Fig. 2). Repeat brain MRI showed multifocal enhancing masses increased in number and size (Fig. 1c, d) He was placed on multiple anticonvulsant medications and corticosteroids, but due to multiorgan injury could not be given chemotherapy or radiation. He was referred to hospice care and died 2.5 months after the initial surgery
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