Autopsy case with concurrent transthyretin and immunoglobulin amyloidosis

• Published in: Pathology international Vol. 72; no. 1; pp. 65 - 71
• Main Authors: Shintani‐Domoto, Yukako, Ishino, Kousuke, Naiki, Hironobu, Sakatani, Takashi, Ohashi, Ryuji
• Format: Journal Article
• Language: English
• Published: Australia Wiley Subscription Services, Inc 01-01-2022
• Subjects: Aged, 80 and over; Amyloid; Amyloid - metabolism; Amyloidosis; Amyloidosis - diagnosis; Amyloidosis - pathology; Aorta; Autopsies; Autopsy; Biopsy; Blood vessels; Bone marrow; Cardiomyocytes; Chromatography, Liquid; concomitant; Deposition; Diagnosis, Differential; Dissection; Heart; Humans; Immunoglobulin Heavy Chains - metabolism; Immunoglobulin Light Chains - metabolism; Immunoglobulins; Immunoglobulins - metabolism; immunohistochemistry; Kidney - metabolism; Kidney - pathology; light and heavy chain; Liquid chromatography; Lung - metabolism; Lung - pathology; Lungs; Male; Mass spectrometry; Mass spectroscopy; Multiple myeloma; Multiple Myeloma - diagnosis; Multiple Myeloma - pathology; Myocardium - metabolism; Myocardium - pathology; Organs; Prealbumin - metabolism; Proteins; Septum; Staining; Tandem Mass Spectrometry; Transthyretin; light and heavy chain; mass spectrometry; amyloidosis; concomitant; immunohistochemistry; transthyretin
• ISSN: 1320-5463; 1440-1827
• DOI: 10.1111/pin.13179

An 85‐year‐old man with a history of aortic dissection suddenly fainted, underwent cardiac heart arrest, and died. An autopsy was performed, but the cause of death was not grossly identified. Congo red staining detected amyloid deposits in systemic organs, including the heart, lungs, liver, and kidneys. Immunohistochemical (IHC) analysis revealed immunoglobulin (Ig) λ light chain (‐λ) in systemic blood vessels and transthyretin (TTR) in the heart and lungs. Ig‐λ was predominantly positive in the blood vessels of the lungs, while TTR was detected in the alveolar septum. In the heart, Ig‐λ was positive in the endocardium and blood vessels, and TTR was positive in nodular deposits between cardiomyocytes. The concurrent deposition of Ig‐λ and TTR in the heart was further substantiated by laser microdissection (LMD)‐liquid chromatography‐tandem mass spectrometry (LC‐MS/MS) at each deposition site. Despite systemic deposition of Ig‐λ, bone marrow biopsy findings were not diagnostic for multiple myeloma. In summary, we present an autopsy case of concurrent Ig‐λ and TTR deposition as revealed by IHC and LC‐MS/MS. When Congo red staining and IHC results are indeterminate due to the deposition of multiple amyloid proteins, LMD‐LC‐MS/MS is useful for determining the precursor protein.