Pseudo-Peritoneal Carcinomatosis Presentation of a Crystal-Storing Histiocytosis With an Unmutated Monoclonal κ Light Chain

Medicine (Baltimore). 2015 Aug;94(32):e1247. doi: 10.1097/MD.0000000000001247.

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Antineoplastic Agents / therapeutic use
  • Boronic Acids / therapeutic use
  • Bortezomib
  • Crystallization
  • Histiocytosis / complications
  • Histiocytosis / diagnosis*
  • Histiocytosis / pathology
  • Humans
  • Immunoglobulin kappa-Chains / genetics*
  • Kidney / pathology
  • Lymph Nodes / pathology
  • Macrophages / chemistry
  • Male
  • Monoclonal Gammopathy of Undetermined Significance / complications*
  • Monoclonal Gammopathy of Undetermined Significance / drug therapy
  • Monoclonal Gammopathy of Undetermined Significance / pathology
  • Peritoneal Neoplasms / complications*
  • Pyrazines / therapeutic use

Substances

  • Antineoplastic Agents
  • Boronic Acids
  • Immunoglobulin kappa-Chains
  • Pyrazines
  • Bortezomib