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Amyloid Typing: Experience from a Large Referral Centre

  • Janet A. GilbertsonEmail author
  • Julian D. Gillmore
  • Philip N. Hawkins
Part of the Current Clinical Pathology book series (CCPATH)

Abstract

Amyloidosis is caused by the deposition in tissues of abnormal protein in a characteristic fibrillar form. There are many types of amyloidoses, which are classified according to the soluble protein precursor from which the amyloid fibrils are derived. Accurate identification of amyloid type is critical in every case since therapy for systemic amyloidosis is type-specific. Here we present experience from the UK National Amyloidosis Centre (NAC) histopathological service highlighting some of the important difficulties encountered and limitations of the available techniques for amyloid typing.

Keywords

Biopsies Congo red Immunohistochemistry Proteomics Laser capture microdissection and mass spectrometry NAC Amyloid 

References

  1. 1.
    Gilbertson JA, Hunt T, Hawkins PN. Amyloid typing: experience from a large referral centre. In: Picken MM, Dogan A, Herrera GA, editors. Amyloid and related disorders. New York, NY: Humana; 2012. p. 231–8.CrossRefGoogle Scholar
  2. 2.
    Puchtler H, Sweat F, Levine M. On the binding of Congo red by amyloid. J Histochem Cytochem. 1962;10:355–64.CrossRefGoogle Scholar
  3. 3.
    Picken MM. Amyloidosis—where are we now and where are we heading? Arch Pathol Lab Med. 2010;134:545–51.PubMedGoogle Scholar
  4. 4.
    Gilbertson JA, Thesis JD, Hunt T, et al. A comparison of immunohistochemistry and mass spectrometry for determining the amyloid fibril protein from formalin fixed biopsy tissue. XIIIth International Symposium on Amyloidosis; 2012. pp. 183–5.Google Scholar
  5. 5.
    Loo D, Mollee PN, Renaut P, et al. Proteomics in molecular diagnosis: typing of amyloidosis. J Biomed Biotechnol. 2011;2011:1–9.CrossRefGoogle Scholar
  6. 6.
    Westermark P, Stenkvist B. A new method for the diagnosis of systemic amyloidosis. Arch Intern Med. 1973;132(4):522–3.CrossRefPubMedGoogle Scholar
  7. 7.
    Pepys MB. Amyloid P component and the diagnosis of amyloidosis. J Int Med Res. 1992;232(6):519–21.CrossRefGoogle Scholar
  8. 8.
    Bijzet J, van Gameren I, Hazenberg BPC. Fat tissue analysis in the management of patients with systemic amyloidosis. In: Picken MM, Dogan A, Herrera GA, editors. Amyloid and related disorders. New York: Humana; 2012. p. 191–207.CrossRefGoogle Scholar
  9. 9.
    Highman B. Improved methods for demonstrating amyloid in paraffin sections. Arch Pathol. 1946;41:559.Google Scholar
  10. 10.
    Stokes G. An improved Congo red method for amyloid. Med Lab Sci. 1976;33:79.PubMedGoogle Scholar
  11. 11.
    Sayed RH, Gilbertson JA, Hutt DF, et al. Misdiagnosing renal amyloidosis as minimal change disease. Nephrol Dial Transplant. 2014;29(11):2120–6.CrossRefPubMedGoogle Scholar
  12. 12.
    Lachmann H, Chir B, Booth D, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346(23):1786–91.CrossRefPubMedGoogle Scholar
  13. 13.
    Sachchithanantham S, Gillmore JD, Gilbertson JA, et al. Painless haematuria is a manifestation of senile systemic amyloidosis. XIV International Symposium on Amyloidosis; 2014. PC-45.Google Scholar
  14. 14.
    Costa PP, Jacobsson B, Collin VP, et al. Unmasking antigen determinants in amyloid. J Histochem Cytochem. 1986;34(12):1683–5.CrossRefPubMedGoogle Scholar
  15. 15.
    Westermark GT, Johnson KH, Westermark P. Staining methods for identification of amyloid in tissue. Methods Enzymol. 1999;309:3–25.CrossRefPubMedGoogle Scholar
  16. 16.
    Tennent GA, Cafferty KD, Pepys MB, et al. Congo red overlay immunohistochemistry aids classification of amyloid deposits. In: Kyle RA, Gertz MA, editors. Amyloid and amyloidosis 1998. Pearl River: Parthenon; 1999. p. 160–2.Google Scholar
  17. 17.
    Owen-Casey MP, Sim R, Cook HT, et al. Value of antibodies to free light chains in immunoperoxidase studies of renal biopsies. J Clin Pathol. 2014;67(8):661–6.PubMedCentralCrossRefPubMedGoogle Scholar
  18. 18.
    Vrana JA, Gamez JD, Madden BJ, et al. Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood. 2009;114:4957–9.CrossRefPubMedGoogle Scholar
  19. 19.
    Kaul E, Pilichowska M, Vullaganti M, et al. Twists and turns of determining amyloid type and amyloid-related organ damage: discordance and clinical skepticism in the era of proteomic typing. Amyloid. 2014;21(1):62–5.CrossRefPubMedGoogle Scholar
  20. 20.
    Vrana JA, Theis JD, Dasari S, et al. Clinical diagnosis and typing of systemic amyloidosis in subcutaneous fat aspirates by mass spectrometry-based proteomics. Haematologica. 2014;99(7):1239–47.PubMedCentralCrossRefPubMedGoogle Scholar
  21. 21.
    Mahmood S, Gilbertson JA, Rendell N, et al. Two types of amyloid in a single heart. Blood. 2014;124(19):3025–7.PubMedCentralCrossRefPubMedGoogle Scholar
  22. 22.
    Hawkins PN, Richardson S, Vigushin DM, et al. Serum amyloid P component scintigraphy and turnover studies for diagnosis and quantitative monitoring of AA amyloidosis in juvenile rheumatoid arthritis. Arthritis Rheum. 1993;36(6):842–51.CrossRefPubMedGoogle Scholar
  23. 23.
    Hawkins PN. Studies with radiolabelled serum amyloid P component provide evidence for turnover and regression of amyloid deposits in vivo. Clin Sci (Colch). 1994;87(3):289–95.CrossRefGoogle Scholar
  24. 24.
    Rapezzi C, Quarta CC, Guidalotti PL, et al. Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy. Eur J Nucl Med Mol Imaging. 2011;38:470–8.CrossRefPubMedGoogle Scholar
  25. 25.
    Bokhari S, Castano A, Pozniakoff T, et al. 99mTc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging. 2013;6:195–201.PubMedCentralCrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  • Janet A. Gilbertson
    • 1
    Email author
  • Julian D. Gillmore
    • 1
  • Philip N. Hawkins
    • 1
  1. 1.UCL Division of MedicineNational Amyloidosis Centre, Royal Free HospitalLondonUK

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