Amyloid light-chain deposition in a schwannoma
Systemic amyloid light-chain amyloidosis is a protein misfolding disorder characterized by extracellular deposition of amyloid fibrils derived from abnormal clonal immunoglobulin light chains in various organ systems. While amyloid light-chain amyloidosis is known to cause neuropathy when it involve...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-12-01
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| Series: | Interdisciplinary Neurosurgery |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214751921002139 |
| _version_ | 1818358681028263936 |
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| author | Megan M. Jack Brandon W. Smith Christopher J. Klein Taxiarchis Kourelis Andrew L. Folpe Robert J. Spinner Ellen D. McPhail |
| author_facet | Megan M. Jack Brandon W. Smith Christopher J. Klein Taxiarchis Kourelis Andrew L. Folpe Robert J. Spinner Ellen D. McPhail |
| author_sort | Megan M. Jack |
| collection | DOAJ |
| description | Systemic amyloid light-chain amyloidosis is a protein misfolding disorder characterized by extracellular deposition of amyloid fibrils derived from abnormal clonal immunoglobulin light chains in various organ systems. While amyloid light-chain amyloidosis is known to cause neuropathy when it involves the peripheral nervous system, deposition within peripheral nerve sheath tumors has not been previously reported. A 68-year-old man with a history of systemic amyloid light-chain amyloidosis with cardiac and renal involvement presented with a painful mass in the lower third of the leg. Imaging was consistent with a peripheral nerve sheath tumor. Pathologic evaluation demonstrated a schwannoma, which unusually contained prominent amyloid deposition, subsequently demonstrated to be of amyloid light-chain-type by mass spectrometry-based proteomic analysis. Amyloid light-chain deposition has been characterized in different organs and tissues, including neurosurgical specimens such as peripheral nerve. This case highlights a new finding of amyloid light-chain deposition in a schwannoma, which likely resulted from gradual amyloid light-chain deposition in a slow-growing schwannoma prior to treatment of systemic amyloid light-chain amyloidosis. Treatment protocols vary dramatically. Therefore, it is crucial to establish the correct amyloid type as well as to distinguish localized from systemic disease. |
| first_indexed | 2024-12-13T20:32:52Z |
| format | Article |
| id | doaj.art-3508b43cde6f493090ec50492930751e |
| institution | Directory Open Access Journal |
| issn | 2214-7519 |
| language | English |
| last_indexed | 2024-12-13T20:32:52Z |
| publishDate | 2021-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Interdisciplinary Neurosurgery |
| spelling | doaj.art-3508b43cde6f493090ec50492930751e2022-12-21T23:32:23ZengElsevierInterdisciplinary Neurosurgery2214-75192021-12-0126101301Amyloid light-chain deposition in a schwannomaMegan M. Jack0Brandon W. Smith1Christopher J. Klein2Taxiarchis Kourelis3Andrew L. Folpe4Robert J. Spinner5Ellen D. McPhail6Department of Neurosurgery, Mayo Clinic, Rochester, MN, USADepartment of Neurosurgery, Mayo Clinic, Rochester, MN, USADepartment of Neurology, Mayo Clinic, Rochester, MN, USADepartment of Hematology, Mayo Clinic, Rochester, MN, USADepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USADepartment of Neurosurgery, Mayo Clinic, Rochester, MN, USA; Corresponding author: Mayo Clinic 200 1st St. SW Rochester, MN 55905 USA.Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USASystemic amyloid light-chain amyloidosis is a protein misfolding disorder characterized by extracellular deposition of amyloid fibrils derived from abnormal clonal immunoglobulin light chains in various organ systems. While amyloid light-chain amyloidosis is known to cause neuropathy when it involves the peripheral nervous system, deposition within peripheral nerve sheath tumors has not been previously reported. A 68-year-old man with a history of systemic amyloid light-chain amyloidosis with cardiac and renal involvement presented with a painful mass in the lower third of the leg. Imaging was consistent with a peripheral nerve sheath tumor. Pathologic evaluation demonstrated a schwannoma, which unusually contained prominent amyloid deposition, subsequently demonstrated to be of amyloid light-chain-type by mass spectrometry-based proteomic analysis. Amyloid light-chain deposition has been characterized in different organs and tissues, including neurosurgical specimens such as peripheral nerve. This case highlights a new finding of amyloid light-chain deposition in a schwannoma, which likely resulted from gradual amyloid light-chain deposition in a slow-growing schwannoma prior to treatment of systemic amyloid light-chain amyloidosis. Treatment protocols vary dramatically. Therefore, it is crucial to establish the correct amyloid type as well as to distinguish localized from systemic disease.http://www.sciencedirect.com/science/article/pii/S2214751921002139NeurilemmomaAmyloidosisAmyloid |
| spellingShingle | Megan M. Jack Brandon W. Smith Christopher J. Klein Taxiarchis Kourelis Andrew L. Folpe Robert J. Spinner Ellen D. McPhail Amyloid light-chain deposition in a schwannoma Interdisciplinary Neurosurgery Neurilemmoma Amyloidosis Amyloid |
| title | Amyloid light-chain deposition in a schwannoma |
| title_full | Amyloid light-chain deposition in a schwannoma |
| title_fullStr | Amyloid light-chain deposition in a schwannoma |
| title_full_unstemmed | Amyloid light-chain deposition in a schwannoma |
| title_short | Amyloid light-chain deposition in a schwannoma |
| title_sort | amyloid light chain deposition in a schwannoma |
| topic | Neurilemmoma Amyloidosis Amyloid |
| url | http://www.sciencedirect.com/science/article/pii/S2214751921002139 |
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