IGVL gene region usage correlates with distinct clinical presentation in IgM vs non-IgM light chain amyloidosis.

Szczegóły
Abstrakt

Tytuł:: IGVL gene region usage correlates with distinct clinical presentation in IgM vs non-IgM light chain amyloidosis.
Autorzy:: Sidana S; Stanford University Medical Center, Stanford, CA; and.; Division of Hematology.
Dasari S; Department of Health Sciences Research, and.
Kourelis TV; Division of Hematology.
Dispenzieri A; Division of Hematology.
Murray DL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
King RL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
McPhail ED; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Ramirez-Alvarado M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Kumar SK; Division of Hematology.
Gertz MA; Division of Hematology.
Źródło:: Blood advances [Blood Adv] 2021 Apr 27; Vol. 5 (8), pp. 2101-2105.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: Washington, DC : American Society of Hematology, [2016]-
MeSH Terms:: Amyloidosis*/diagnosis
Amyloidosis*/genetics
Immunoglobulin Light-chain Amyloidosis*/diagnosis
Humans ; Immunoglobulin Light Chains ; Immunoglobulin M
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Grant Information:: KL2 TR003143 United States TR NCATS NIH HHS; P30 CA015083 United States CA NCI NIH HHS; P50 CA186781 United States CA NCI NIH HHS
Substance Nomenclature:: 0 (Immunoglobulin Light Chains)
0 (Immunoglobulin M)
Entry Date(s):: Date Created: 20210420 Date Completed: 20210531 Latest Revision: 20211229
Update Code:: 20240104
PubMed Central ID:: PMC8095150
DOI:: 10.1182/bloodadvances.2020003671
PMID:: 33877297
: Czasopismo naukowe

Patients with immunoglobulin M (IgM) light chain (AL) amyloidosis have a distinct clinical presentation compared with those with non-IgM amyloidosis. We hypothesized that differential immunoglobulin light-chain variable region (IGVL) gene usage may explain the differences in organ involvement, because IGVL usage correlates with organ tropism. IGVL usage was evaluated by mass spectrometry of amyloid deposits (IgM, n = 45; non-IgM, n = 391) and differed across the 2 groups. In the λ family, LV2-08 (13% vs 2%; P < .001) and LV2-14 (36% vs 10%; P < .001) usage was more common in IgM vs non-IgM amyloidosis, whereas LV1-44 (0% vs 10%; P = .02) and LV6-57 (2% vs 18%; P = .004) usage was less common. In the κ family, there was a trend toward higher KV4-01 (11% vs 4%; P = .06) usage in IgM amyloidosis. IGVL usage correlated with disease characteristics/organ tropism. LV2-14 (more common in IgM amyloidosis) has historically been associated with peripheral nerve involvement and lower light chain burden, which were more frequent in IgM amyloidosis. LV1-44 (less common in IgM), associated with cardiac involvement, was less frequent in IgM patients. LV6-57 (less common in IgM) is associated with t(11;14), which was less frequent in IgM patients. In conclusion, IGVL gene usage differs in patients with IgM vs non-IgM amyloidosis and may explain the distinct clinical presentation.
(© 2021 by The American Society of Hematology.)

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