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Lopedote, Paolo, Evans, Benjamin 
ORCID: https://orcid.org/0000-0001-6849-9758, Marchetti, Alfredo, Chen, Tianzeng, Moscvin, Maria, Boullt, Samuel, Bolli, Niccolò and Bianchi, Giada
(2024)
Clonal hematopoiesis of indeterminate potential in patients with immunoglobulin light-chain AL amyloidosis.
Blood Advances, 8 (13).
pp. 3427-3436.
ISSN 2473-9529
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Abstract
Immunoglobulin light-chain (AL) amyloidosis is characterized by the deposition of misfolded monoclonal free light chains, with cardiac complications accounting for patient mortality. Clonal hematopoiesis of indeterminate potential (CHIP) has been associated with worse cardiovascular outcomes in the general population. Its significance in AL amyloidosis remains unclear. We collected clinical information and outcome data on 76 patients with a diagnosis of AL amyloidosis who underwent deep targeted sequencing for myeloid neoplasia-associated mutations between April 2018 and August 2023. Variant allele frequency was set at 2% to call CHIP-associated mutations. CHIP mutations were present in patients with AL amyloidosis at a higher frequency compared with age-matched control individuals. Sixteen patients (21%) had at least 1 CHIP mutation. DNMT3A was the most frequent mutation (7/16; 44%). Compared with patients without CHIP, patients with CHIP had a higher prevalence of t(11;14) translocation (69% vs 25%, respectively; P = .004). Furthermore, among patients with renal involvement, those with CHIP had a lower Palladini renal stage (P = .001). At a median follow-up of 32.5 months, the presence of CHIP was not associated with worse overall survival or major organ dysfunction progression-free survival. Larger studies and longer follow-up are needed to better define the impact of CHIP in patients with AL amyloidosis.
| Item Type: | Article |
|---|---|
| Additional Information: | Publisher Copyright: © 2024 by The American Society of Hematology. |
| Uncontrolled Keywords: | hematology ,/dk/atira/pure/subjectarea/asjc/2700/2720 |
| Faculty \ School: | Faculty of Medicine and Health Sciences > Norwich Medical School |
| UEA Research Groups: | Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health Faculty of Medicine and Health Sciences > Research Groups > Gastroenterology and Gut Biology Faculty of Medicine and Health Sciences > Research Groups > Pathogen Biology Group |
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 14 Aug 2026 15:26 |
| Last Modified: | 16 Aug 2026 05:43 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/104157 |
| DOI: | 10.1182/bloodadvances.2024012840 |
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