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Blood, 1 September 2002, Vol. 100, No. 5, pp. 1817-1827
NEOPLASIA
Generalized crystal-storing histiocytosis associated with
monoclonal gammopathy: molecular analysis of a disorder with rapid
clinical course and review of the literature
Annette Lebeau,
Evelyn Zeindl-Eberhart,
Eva-Christina Müller,
Josef Müller-Höcker,
Peter Roman Jungblut,
Bertold Emmerich, and
Udo Löhrs
From the Pathologisches Institut and the Medizinische
Klinik-Klinikum Innenstadt der Ludwig-Maximilians-Universität
München, Germany; Max-Delbrück-Centrum für Molekulare
Medizin, and the Max-Planck-Institut für Infektionsbiologie,
Protein Analyse Einheit, Berlin, Germany.
Crystal-storing histiocytosis (CSH) is a rare event in disorders
associated with monoclonal gammopathy. The intracellular crystal
formation is almost always accompanied by the expression of  light
chains. However, the exact mechanism for the storage has not
been clarified until now. We report a case of generalized CSH in a
73-year-old man who presented with IgA paraproteinemia and
paraproteinuria. The initially observed CSH in the bone marrow biopsy
was associated with the clinical and pathomorphologic features of a
monoclonal gammopathy of undetermined significance. The progression of
disease could not be affected by steroid therapy and the patient died
of septic shock 7 months after detection of CSH. At the time of autopsy
there was evidence for multiple myeloma and generalized CSH.
Two-dimensional gel electrophoresis of liver tissue combined with
immunoblotting revealed the massive storage of heavy chains of  type
and light chains of type, each in a monoclonal pattern. Analysis of
the stored light chain by nanoelectrospray-ionization mass
spectrometry indicated that it belongs to the variable  I variability subgroup. We identified some unusual amino acid
substitutions including Leu59, usually important for
hydrophobic interactions within a protein, at a position where it has
never been previously described in plasma cell disorders. In
conclusion, we present the first case of CSH with molecular
identification of the stored subgroup and detection of unusual
amino acid substitutions. Our results suggest that conformational
alterations induced by amino acid exchanges represent a crucial
pathogenic factor in CSH.
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