Systemic mastocytosis with renal light chain amyloidosis: associated non-mast cell disorder or concurrent disease

First described by Nettleship et al. in 1869 [1], mastocytoses are a heterogeneous group of disorders characterized by the pathologic accumulation of mast cells in various tissues [2-5]. Mastocytosis can be confined to the skin as in cutaneous mastocytosis (CM), or it can involve extracutaneous tissues such as the liver, spleen, bone marrow and lymph nodes, as in systemic mastocytosis [6]. Mastocytosis is a World Health Organization-defined clonal mast cell disorder characterized by significant clinicopathologic heterogeneity [7]. Keywords: Cutaneous mastocytosis; Systemic mastocytosis; Systemic involvement; Mast cells; Mastocytosis.

Download Full-text

Reproducibility and repeatability of assessment of myocardial light chain amyloidosis burden using 18F-florbetapir PET/CT

Journal of Nuclear Cardiology ◽

10.1007/s12350-019-01971-x ◽

2019 ◽

Author(s):

Frank S. Prato ◽

Gerald Wisenberg

Keyword(s):

Light Chain ◽

Light Chain Amyloidosis ◽

Pet Ct

Download Full-text

Validation of the composite organ and hematologic response model for prognostic prediction in a Chinese light chain amyloidosis cohort

Leukemia & Lymphoma ◽

10.1080/10428194.2021.1885665 ◽

2021 ◽

pp. 1-7

Author(s):

Kai-ni Shen ◽

Hui-lei Miao ◽

Lu Zhang ◽

Jun Feng ◽

Xin-xin Cao ◽

...

Keyword(s):

Light Chain ◽

Response Model ◽

Light Chain Amyloidosis ◽

Hematologic Response ◽

Prognostic Prediction

Download Full-text

Prognostic stratification and treatment of cardiac light chain amyloidosis: A narrow path in the jungle

The Journal of Heart and Lung Transplantation ◽

10.1016/j.healun.2013.11.007 ◽

2014 ◽

Vol 33 (2) ◽

pp. 136-138 ◽

Cited By ~ 3

Author(s):

Luciano Potena ◽

Candida Cristina Quarta ◽

Francesco Grigioni ◽

Claudio Rapezzi

Keyword(s):

Light Chain ◽

Light Chain Amyloidosis ◽

Prognostic Stratification

Download Full-text

Genetic pathogenesis of immunoglobulin light chain amyloidosis: basic characteristics and clinical applications

Experimental Hematology and Oncology ◽

10.1186/s40164-021-00236-z ◽

2021 ◽

Vol 10 (1) ◽

Author(s):

Linchun Xu ◽

Yongzhong Su

Keyword(s):

Plasma Cell ◽

Light Chain ◽

Amyloid Fibril ◽

Treatment Modalities ◽

Driver Gene ◽

Immunoglobulin Light Chain ◽

Disease Evolution ◽

Genetic Aberrations ◽

Light Chain Amyloidosis ◽

Immunoglobulin Light Chain Amyloidosis

AbstractImmunoglobulin light chain amyloidosis (AL) is an indolent plasma cell disorder characterized by free immunoglobulin light chain (FLC) misfolding and amyloid fibril deposition. The cytogenetic pattern of AL shows profound similarity with that of other plasma cell disorders but harbors distinct features. AL can be classified into two primary subtypes: non-hyperdiploidy and hyperdiploidy. Non-hyperdiploidy usually involves immunoglobulin heavy chain translocations, and t(11;14) is the hallmark of this disease. T(11;14) is associated with low plasma cell count but high FLC level and displays distinct response outcomes to different treatment modalities. Hyperdiploidy is associated with plasmacytosis and subclone formation, and it generally confers a neutral or inferior prognostic outcome. Other chromosome abnormalities and driver gene mutations are considered as secondary cytogenetic aberrations that occur during disease evolution. These genetic aberrations contribute to the proliferation of plasma cells, which secrete excess FLC for amyloid deposition. Other genetic factors, such as specific usage of immunoglobulin light chain germline genes and light chain somatic mutations, also play an essential role in amyloid fibril deposition in AL. This paper will propose a framework of AL classification based on genetic aberrations and discuss the amyloid formation of AL from a genetic aspect.

Download Full-text