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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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Hereditary systemic immunoglobulin light-chain amyloidosis

Merrill D Benson1, Juris J Liepnieks2, Barbara Kluve-Beckerman2

  • 1Indiana University School of Medicine, Department of Pathology and Laboratory Medicine, Indianapolis, IN: and Richard L. Roudebush VA Medical Center, Indianapolis, IN.

Blood
|April 11, 2015
PubMed

Insights

A novel hereditary amyloidosis, caused by a specific mutation in the immunoglobulin kappa light chain gene (Ser131Cys), leads to renal failure. This genetic form of amyloid light-chain amyloidosis can be misdiagnosed, highlighting the need for accurate genetic testing.

Area of Science:

  • Genetics
  • Nephrology
  • Immunology

Background:

  • Systemic amyloidosis caused familial renal failure.
  • Previous genetic studies failed to identify the cause.
  • Amyloid fibrils were isolated from renal tissue.

Purpose of the Study:

  • To identify the genetic basis of hereditary systemic amyloidosis.
  • To characterize the mutation responsible for the disease.

Main Methods:

  • Amino acid sequencing of amyloid protein.
  • Protein isolation and characterization from serum.
  • DNA analysis for mutation confirmation and family screening.

Main Results:

  • Amyloid protein sequences were compatible with immunoglobulin kappa light-chain.
  • A mutation (Ser131Cys) in the kappa light-chain constant region was identified.
  • The Ser131Cys mutation was confirmed by DNA analysis and found in affected family members.

Conclusions:

  • Identified a hereditary form of amyloid light-chain (AL) amyloidosis due to the Ser131Cys mutation.
  • This hereditary amyloidosis is distinct from plasma cell dyscrasia-related AL amyloidosis.
  • Misdiagnosis of this hereditary condition may lead to inappropriate chemotherapy.

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