1. AL amyloidosis with non-amyloid forming monoclonal immunoglobulin deposition; a case mimicking AHL amyloidosis
- Author
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Fuyuki Kametani, Masahide Yazaki, Michio Nagata, Michiyasu Hatano, Shun Manabe, Chihiro Iwasaki, and Kosaku Nitta
- Subjects
medicine.medical_specialty ,Pathology ,Amyloid ,030232 urology & nephrology ,Case Report ,lcsh:RC870-923 ,Renal amyloidosis ,Lymphoplasmacytic Lymphoma ,Diagnosis, Differential ,Immunoglobulin Light-chain Amyloidosis ,Immunoglobulin light-chain amyloidosis ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,AL amyloidosis ,Immunoglobulin heavy-and-light chain-amyloidosis ,Humans ,Aged ,Mass spectrometry ,business.industry ,Amyloidosis ,Amyloid purification ,medicine.disease ,lcsh:Diseases of the genitourinary system. Urology ,Nephrology ,030220 oncology & carcinogenesis ,Monoclonal ,Female ,Immunoglobulin Light Chains ,Laser microdissection ,Immunoglobulin Heavy Chains ,business ,Immunostaining - Abstract
Background Immunoglobulin heavy-and-light-chain amyloidosis (AHL amyloidosis) is a newly established disease entity where both the immunoglobulin heavy-chain and light-chain compose amyloid fibrils. The immunoglobulins responsible for the amyloid fibrils are generally identified by immunostaining and/or laser microdissection-liquid chromatography-tandem mass spectrometry (LMD-LC-MS/MS). However, both techniques do not biochemically differentiate immunoglobulins that formed amyloid fibrils from non-responsible immunoglobulins. Case presentation We herein report a case of 67-year-old female patient with renal amyloidosis due to lymphoplasmacytic lymphoma secreting monoclonal immunoglobulin M (IgM)-kappa. Renal immunostaining monotypically positive for IgM-kappa and LMD-LC-MS/MS identification of mu heavy-chain and kappa light-chain were consistent with the diagnosis of AHL amyloidosis. In order to confirm that both the immunoglobulin heavy-chain and light-chain were forming amyloid fibrils, we performed LC-MS/MS of renal amyloid fibrils isolated by the traditional amyloid purification method. The additional LC-MS/MS identified kappa light-chain only without any heavy-chain component. These results were suggestive that amyloid fibrils were composed by kappa light-chain only and that the mu heavy-chain identified by immunostaining and LMD-LC-MS/MS was derived from the non-specific co-deposition of monoclonal IgM-kappa. Conclusion The case was AL amyloidosis with non-amyloid forming monoclonal immunoglobulin deposition. While immunostaining and LMD-LC-MS/MS are irreplaceable techniques to classify amyloidosis, confident exclusion of the present condition should be required to diagnose AHL amyloidosis.
- Published
- 2018