Author/Editor		Matjašič, Alenka; Wechtersbach, Karmen; Kavalar, Rajko; Voršič, Matjaž; Mlakar, Jernej; Ravnik, Janez; Popović, Mara
Title		Brain aggregoma with clonal B-cell perivascular proliferation detected by next-generation sequencing
Type		članek
Vol. and No.		Letnik 59, št. 2
Publication year		2012
Volume		str. 205-211
ISSN		1641-4640 - Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences
Language		eng
Abstract		Light-chain deposition disease (LCDD), a rare type of monoclonal immunoglobulin deposition disease, can be presented as systemic or localized, very rarely affecting central nervous system (CNS). Only 10 cases of CNS-LCDD have been described so far. We present an eleventh case of cerebral tumour-like LCDD, called aggregoma, and compare it with previously reported cases. A 49-year-old patient was admitted to the hospital due to a first generalized epileptic seizure. Magnetic resonance imaging (MRI) showed focal lesion in the right occipital lobe. Abundant parenchymal aggregates of pale eosinophilic material were observed, Congo red negative, Thioflavin T moderately positive, and l-light chain positive, but k negative in immunofluorescence with mild perivascular lymphoplasmacytic infiltrates in the intervening brain tissue. Clonality testing by next-generation sequencing showed the monoclonal nature of B-lymphocytes. Electron microscopy showed a finely granular ultrastructure of the aggregates without deposition in the vessel walls. A whole-body workup did not show any extra-cerebral immune dyscrasias.
Keywords		paraproteinaemia next-generation sequencing immunoglobulin light chains paraproteinemija sekvenciranje naslednje generacije lahke verige imunoglobulina