Analysis of Vλ-Jλ expression in plasma cells from primary (AL) amyloidosis and normal bone marrow identifies 3r(λIII) as a new amyloid-associated germline gene segment

@article{Perfetti2002AnalysisOV,
  title={Analysis of V$\lambda$-J$\lambda$ expression in plasma cells from primary (AL) amyloidosis and normal bone marrow identifies 3r($\lambda$III) as a new amyloid-associated germline gene segment},
  author={Vittorio Perfetti and Simona Casarini and Giovanni Palladini and Maurizio Colli Vignarelli and Catherine Klersy and Marta Diegoli and Edoardo Ascari and Giampaolo Merlini},
  journal={Blood},
  year={2002},
  volume={100},
  pages={948-953}
}
Primary (AL) amyloidosis is a plasma cell dyscrasia characterized by extracellular deposition of monoclonal light-chain variable region (V) fragments in the form of amyloid fibrils. Light-chain amyloid is rare, and it is not fully understood why it occurs in only a fraction of patients with a circulating monoclonal component and why it typically associates with λ isotype and λVI family light-chain proteins. To provide insights into these issues, we obtained complete nucleotide sequences of… 
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Functional analyses using a novel network mapping software revealed a number of potentially significant pathways that were dysregulated in patients with AL, with those regulating proliferation, apoptosis, cell signaling, chemotaxis, and migration being substantially represented.
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This work established the genetic relationship between the cell lines and the primary patient cells, and was also able to identify new genetic changes accompanying tumor progression that may explain the natural history of this patient's disease.
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TLDR
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The understanding of the specific molecular mechanisms of cardiac damage and the characteristics of the amyloidogenic clone are unveiling novel potential treatment approaches, moving towards a cure for this dreadful disease.
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A framework of AL classification based on genetic aberrations is proposed and the amyloid formation of AL from a genetic aspect is discussed.
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