AL amyloidosis with non-amyloid forming monoclonal immunoglobulin deposition; a case mimicking AHL amyloidosis.
AL amyloidosis with non-amyloid forming monoclonal immunoglobulin deposition; a case mimicking AHL amyloidosis.
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DOI：
10.1186/s12882-018-1050-y
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发表时间：
2018-11-22
期刊：
影响因子：
2.3
通讯作者：
Nagata M
中科院分区：
文献类型：
--
作者：
Manabe S;Iwasaki C;Hatano M;Kametani F;Yazaki M;Nitta K;Nagata M
免疫球蛋白重链和轻链淀粉样变性（AHL淀粉样变性）是一种由免疫球蛋白重链和轻链组成淀粉样原纤维的新发现的疾病。负责淀粉样蛋白原纤维的免疫球蛋白通常通过免疫染色和/或激光显微解剖-液相色谱-串联质谱（LMD-LC-MS/MS）来鉴定。然而，这两种技术都不能从生化角度区分形成淀粉样蛋白原纤维的免疫球蛋白和非负责任的免疫球蛋白。我们在此报告一例67岁女性因淋巴浆细胞性淋巴瘤引起的肾脏淀粉样变，分泌单克隆免疫球蛋白M (IgM)-kappa。肾免疫染色IgM-kappa单典型阳性，LMD-LC-MS/MS鉴定mu重链和kappa轻链与AHL淀粉样变性的诊断一致。为了证实免疫球蛋白重链和轻链都在形成淀粉样原纤维，我们对采用传统淀粉样纯化方法分离的肾淀粉样原纤维进行LC-MS/MS检测。另外的LC-MS/MS只鉴定出kappa轻链，没有任何重链成分。这些结果提示淀粉样蛋白原纤维仅由kappa轻链组成，免疫染色和LMD-LC-MS/MS鉴定的mu重链来源于单克隆IgM-kappa的非特异性共沉积。该病例为AL淀粉样变性伴非淀粉样蛋白形成的单克隆免疫球蛋白沉积。虽然免疫染色和LMD-LC-MS/MS是淀粉样变性不可替代的分类技术，但诊断AHL淀粉样变性需要完全排除目前的情况。
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. 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. 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.
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影响因子：
19.6
作者：
Nasr, Samih H.;Said, Samar M.;Leung, Nelson
通讯作者：
Leung, Nelson
影响因子：
13.2
作者：
Nasr, SH;Lobritto, SJ;Markowitz, GS
通讯作者：
Markowitz, GS
影响因子：
13.2
作者：
Manabe, Shun;Hatano, Michiyasu;Nagata, Michio
通讯作者：
Nagata, Michio
DOI：
10.2215/cjn.02890310
发表时间：
2010-12-01
影响因子：
9.8
作者：
Sethi, Sanjeev;Theis, Jason D.;Dogan, Ahmet
通讯作者：
Dogan, Ahmet
DOI：
10.1080/10245330410001671561
发表时间：
2004-04-01
期刊：
Hematology (Amsterdam, Netherlands)
影响因子：
--
作者：
Kinoshita, Koji;Yamagata, Toshiaki;Kanamaru, Akihisa
通讯作者：
Kanamaru, Akihisa