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Pseudo-Peritoneal Carcinomatosis Presentation of a Crystal-Storing Histiocytosis With an Unmutated Monoclonal κ Light
Aude Aline-Fardin1, Sebastien Bender, Bettina Fabiani
1From the AP-HP (AA-F, BF), Hôpital Saint Antoine, Department of Pathology, Paris; CNRS UMR 7276 Université de Limoges (SB, MCV), Hôpital Universitaire Dupuytren; AP-HP (DB), Hôpital Tenon, Department of Pathology, Paris; Université Pierre et Marie Curie-Paris 6 (DB), Paris; Centre hospitalier de Troyes (SB), Service D'Hématologie; AP-HP (MM), Hôpital Saint-Antoine, Service d'Hématologie Clinique et Thérapie Cellulaire, Paris; Université Pierre & Marie Curie (MM), Paris; INSERM (MM), UMRs, U938, Paris; AP-HP (PR, JJB), Hôpital Tenon, Department of Nephrology and Dialysis, Paris; Sorbonne Universités (PR, JJB), UPMC Univ Paris 06, UMR_S 1155; INSERM (PR, JJB), UMR_S 1155, Paris; INSERM (PA), UMRS 938, Hôpital Saint-Antoine, Paris; Université Pierre et Marie Curie-Paris6 (PA), Hôpital Saint-Antoine, Paris; INSERM (LG), UMR_S 938, Paris; AP-HP (LG), Hôpital Saint Antoine, Département d'hématologie et de thérapie cellulaire, Paris; and Université Pierre et Marie Curie-Paris6 (LG), Paris, France.
Abstract:
Crystal-storing histiocytosis (CSH) is a rare complication of monoclonal gammopathies caused by accumulation of crystalline material inside macrophages, and it may result in a variety of clinical manifestations depending on the involved organs. Although immunoglobulin κ light chains (LCs) seem to be the most frequent pathogenic component, very few molecular data are currently available.A 69-year-old man presented with a very poor performance status. Remarkable features were mesenteric lymph node enlargement and proteinuria, including a monoclonal κ LC. Light and electron microscopy studies revealed the presence of crystals within macrophages in the lymph nodes, bone marrow, and kidney, leading to the diagnosis of CSH. The pathogenic κ LC variable domain sequence was identical to the germline Vk3-2001/Jk201 gene segments, without any somatic mutation, suggesting an extra-follicular B cell proliferation.The patient was successfully treated with 4 cycles of bortezomib and dexamethasone. After a 12-month follow-up, he remains in hematological and renal remission.CSH may present as pseudo-peritoneal carcinomatosis and relate to a monoclonal κ LC encoded by an unmutated gene. Bortezomib-based therapy proved efficacious in this case.
