Difference between revisions of "Primary Amyloidosis"

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==Definition / Description of Disease==
 
==Definition / Description of Disease==
  
A member of the group of “monoclonal immunoglobulin deposition diseases” that are characterized by visceral and soft tissue deposition of aberrant Ig, which subsequently results in organ dysfunction <ref>{{Cite journal|last=Aucouturier|first=Pierre|last2=Khamlichi|first2=Ahmed A.|last3=Touchard|first3=Guy|last4=Justrabo|first4=Eve|last5=Cogne|first5=Michel|last6=Chauffert|first6=Bruno|last7=Martin|first7=Francois|last8=Preud'homme|first8=Jean-Louis|date=1993|title=Heavy-Chain Deposition Disease|url=http://www.nejm.org/doi/abs/10.1056/NEJM199311043291905|journal=New England Journal of Medicine|language=en|volume=329|issue=19|pages=1389–1393|doi=10.1056/NEJM199311043291905|issn=0028-4793}}</ref><ref>{{Cite journal|last=J|first=Buxbaum|date=1992|title=Mechanisms of disease: monoclonal immunoglobulin deposition. Amyloidosis, light chain deposition disease, and light and heavy chain deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/1582976/|language=en|pmid=1582976}}</ref><ref>{{Cite journal|last=Herzenberg|first=Andrew M.|last2=Lien|first2=John|last3=Magil|first3=Alex B.|date=1996|title=Monoclonal heavy chain (immunoglobulin G3) deposition disease: report of a case|url=https://linkinghub.elsevier.com/retrieve/pii/S0272638696901419|journal=American Journal of Kidney Diseases|language=en|volume=28|issue=1|pages=128–131|doi=10.1016/S0272-6386(96)90141-9}}</ref><ref>{{Cite journal|last=Kambham|first=Neeraja|last2=Markowitz|first2=Glen S.|last3=Appel|first3=Gerald B.|last4=Kleiner|first4=Morton J.|last5=Aucouturier|first5=Pierre|last6=D'Agati|first6=Vivette D.|date=1999|title=Heavy chain deposition disease: The disease spectrum|url=https://linkinghub.elsevier.com/retrieve/pii/S0272638699704324|journal=American Journal of Kidney Diseases|language=en|volume=33|issue=5|pages=954–962|doi=10.1016/S0272-6386(99)70432-4}}</ref><ref>{{Cite journal|last=Ra|first=Kyle|last2=Ma|first2=Gertz|date=1995|title=Primary systemic amyloidosis: clinical and laboratory features in 474 cases|url=https://pubmed.ncbi.nlm.nih.gov/7878478/|language=en|pmid=7878478}}</ref><ref>{{Cite journal|last=Preud'homme|first=Jean-Louis|last2=Aucouturier|first2=Pierre|last3=Touchard|first3=Guy|last4=Striker|first4=Liliane|last5=Khamlichi|first5=Ahmed Amine|last6=Rocca|first6=Anna|last7=Denoroy|first7=Luc|last8=Cogné|first8=Michel|date=1994|title=Monoclonal immunoglobulin deposition disease (Randall type). Relationship with structural abnormalities of immunoglobulin chains|url=https://linkinghub.elsevier.com/retrieve/pii/S0085253815586365|journal=Kidney International|language=en|volume=46|issue=4|pages=965–972|doi=10.1038/ki.1994.355}}</ref><ref>{{Cite journal|last=Preud'Homme|first=Jean-Louis|last2=Aucouturier|first2=Pierre|last3=Touchard|first3=Guy|last4=Khamlichi|first4=Amhed Amine|last5=Rocca|first5=Anna|last6=Denoroy|first6=Luc|last7=Cogne|first7=Michel|date=1994|title=Monoclonal immunoglobulin deposition disease: A review of immunoglobulin chain alterations|url=https://linkinghub.elsevier.com/retrieve/pii/0192056194900329|journal=International Journal of Immunopharmacology|language=en|volume=16|issue=5-6|pages=425–431|doi=10.1016/0192-0561(94)90032-9}}</ref><ref>{{Cite journal|last=Serpell|first=L. C.|last2=Sunde|first2=M.|last3=Blake|first3=C. C. F.|date=1997|title=The molecular basis of amyloidosis|url=http://link.springer.com/10.1007/s000180050107|journal=Cellular and Molecular Life Sciences|volume=53|issue=12|pages=871|doi=10.1007/s000180050107}}</ref><ref>McKenna RW, et al., (2017). Plasma cell neoplasms: Monoclonal immunoglobulin deposition diseases, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow, SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p254-255. </ref>
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* A member of the group of “monoclonal immunoglobulin deposition diseases” that are characterized by visceral and soft tissue deposition of aberrant immunoglobulin (Ig), which subsequently results in organ dysfunction <ref>{{Cite journal|last=Aucouturier|first=Pierre|last2=Khamlichi|first2=Ahmed A.|last3=Touchard|first3=Guy|last4=Justrabo|first4=Eve|last5=Cogne|first5=Michel|last6=Chauffert|first6=Bruno|last7=Martin|first7=Francois|last8=Preud'homme|first8=Jean-Louis|date=1993|title=Heavy-Chain Deposition Disease|url=http://www.nejm.org/doi/abs/10.1056/NEJM199311043291905|journal=New England Journal of Medicine|language=en|volume=329|issue=19|pages=1389–1393|doi=10.1056/NEJM199311043291905|issn=0028-4793}}</ref><ref>{{Cite journal|last=J|first=Buxbaum|date=1992|title=Mechanisms of disease: monoclonal immunoglobulin deposition. Amyloidosis, light chain deposition disease, and light and heavy chain deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/1582976/|language=en|pmid=1582976}}</ref><ref>{{Cite journal|last=Herzenberg|first=Andrew M.|last2=Lien|first2=John|last3=Magil|first3=Alex B.|date=1996|title=Monoclonal heavy chain (immunoglobulin G3) deposition disease: report of a case|url=https://linkinghub.elsevier.com/retrieve/pii/S0272638696901419|journal=American Journal of Kidney Diseases|language=en|volume=28|issue=1|pages=128–131|doi=10.1016/S0272-6386(96)90141-9}}</ref><ref>{{Cite journal|last=Kambham|first=Neeraja|last2=Markowitz|first2=Glen S.|last3=Appel|first3=Gerald B.|last4=Kleiner|first4=Morton J.|last5=Aucouturier|first5=Pierre|last6=D'Agati|first6=Vivette D.|date=1999|title=Heavy chain deposition disease: The disease spectrum|url=https://linkinghub.elsevier.com/retrieve/pii/S0272638699704324|journal=American Journal of Kidney Diseases|language=en|volume=33|issue=5|pages=954–962|doi=10.1016/S0272-6386(99)70432-4}}</ref><ref>{{Cite journal|last=Ra|first=Kyle|last2=Ma|first2=Gertz|date=1995|title=Primary systemic amyloidosis: clinical and laboratory features in 474 cases|url=https://pubmed.ncbi.nlm.nih.gov/7878478/|language=en|pmid=7878478}}</ref><ref>{{Cite journal|last=Preud'homme|first=Jean-Louis|last2=Aucouturier|first2=Pierre|last3=Touchard|first3=Guy|last4=Striker|first4=Liliane|last5=Khamlichi|first5=Ahmed Amine|last6=Rocca|first6=Anna|last7=Denoroy|first7=Luc|last8=Cogné|first8=Michel|date=1994|title=Monoclonal immunoglobulin deposition disease (Randall type). Relationship with structural abnormalities of immunoglobulin chains|url=https://linkinghub.elsevier.com/retrieve/pii/S0085253815586365|journal=Kidney International|language=en|volume=46|issue=4|pages=965–972|doi=10.1038/ki.1994.355}}</ref><ref>{{Cite journal|last=Preud'Homme|first=Jean-Louis|last2=Aucouturier|first2=Pierre|last3=Touchard|first3=Guy|last4=Khamlichi|first4=Amhed Amine|last5=Rocca|first5=Anna|last6=Denoroy|first6=Luc|last7=Cogne|first7=Michel|date=1994|title=Monoclonal immunoglobulin deposition disease: A review of immunoglobulin chain alterations|url=https://linkinghub.elsevier.com/retrieve/pii/0192056194900329|journal=International Journal of Immunopharmacology|language=en|volume=16|issue=5-6|pages=425–431|doi=10.1016/0192-0561(94)90032-9}}</ref><ref>{{Cite journal|last=Serpell|first=L. C.|last2=Sunde|first2=M.|last3=Blake|first3=C. C. F.|date=1997|title=The molecular basis of amyloidosis|url=http://link.springer.com/10.1007/s000180050107|journal=Cellular and Molecular Life Sciences|volume=53|issue=12|pages=871|doi=10.1007/s000180050107}}</ref><ref name=":0">McKenna RW, et al., (2017). Plasma cell neoplasms: Monoclonal immunoglobulin deposition diseases, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow, SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p254-255. </ref>
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 +
* These monoclonal Ig deposition diseases overlap as clinically similar conditions—but likely represent chemically distinctive manifestations of similar pathological processes, which can be placed into two major categories: 1) primary amyloidosis (detailed herein); 2) [http://www.ccga.io/index.php/Light_Chain_and_Heavy_Chain_Deposition_Disease light chain and heavy chain deposition diseases]. <ref name=":0" /><ref>{{Cite journal|last=Ra|first=Kyle|last2=A|first2=Linos|last3=Cm|first3=Beard|last4=Rp|first4=Linke|last5=Ma|first5=Gertz|last6=Wm|first6=O'Fallon|last7=Lt|first7=Kurland|date=1992|title=Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989|url=https://pubmed.ncbi.nlm.nih.gov/1558973/|language=en|pmid=1558973}}</ref>
  
 
==Synonyms / Terminology==
 
==Synonyms / Terminology==

Revision as of 17:28, 28 July 2020

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Primary Author(s)*

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Cancer Category/Type

Mature B-cell neoplasms

Cancer Sub-Classification / Subtype

Monoclonal immunoglobulin deposition disease

Definition / Description of Disease

  • A member of the group of “monoclonal immunoglobulin deposition diseases” that are characterized by visceral and soft tissue deposition of aberrant immunoglobulin (Ig), which subsequently results in organ dysfunction [1][2][3][4][5][6][7][8][9]
  • These monoclonal Ig deposition diseases overlap as clinically similar conditions—but likely represent chemically distinctive manifestations of similar pathological processes, which can be placed into two major categories: 1) primary amyloidosis (detailed herein); 2) light chain and heavy chain deposition diseases. [9][10]

Synonyms / Terminology

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Epidemiology / Prevalence

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Clinical Features

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Sites of Involvement

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Morphologic Features

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Immunophenotype

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Finding Marker
Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4

Chromosomal Rearrangements (Gene Fusions)

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Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 5%
EXAMPLE t(8;21)(q22;q22) EXAMPLE 5'RUNX1 / 3'RUNXT1 EXAMPLE der(8) EXAMPLE 5%

Characteristic Chromosomal Aberrations / Patterns

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Genomic Gain/Loss/LOH

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Chromosome Number Gain/Loss/Amp/LOH Region
EXAMPLE 8 EXAMPLE Gain EXAMPLE chr8:0-1000000
EXAMPLE 7 EXAMPLE Loss EXAMPLE chr7:0-1000000

Gene Mutations (SNV/INDEL)

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Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
EXAMPLE TP53 EXAMPLE R273H EXAMPLE Tumor Suppressor EXAMPLE LOF EXAMPLE 20%

Other Mutations

Type Gene/Region/Other
Concomitant Mutations EXAMPLE IDH1 R123H
Secondary Mutations EXAMPLE Trisomy 7
Mutually Exclusive EXAMPLE EGFR Amplification

Epigenomics (Methylation)

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Genes and Main Pathways Involved

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Diagnostic Testing Methods

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Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)

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Familial Forms

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Other Information

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Links

Monoclonal Immunoglobulin Deposition Diseases

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References

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  1. Aucouturier, Pierre; et al. (1993). "Heavy-Chain Deposition Disease". New England Journal of Medicine. 329 (19): 1389–1393. doi:10.1056/NEJM199311043291905. ISSN 0028-4793.
  2. J, Buxbaum (1992). "Mechanisms of disease: monoclonal immunoglobulin deposition. Amyloidosis, light chain deposition disease, and light and heavy chain deposition disease". PMID 1582976.
  3. Herzenberg, Andrew M.; et al. (1996). "Monoclonal heavy chain (immunoglobulin G3) deposition disease: report of a case". American Journal of Kidney Diseases. 28 (1): 128–131. doi:10.1016/S0272-6386(96)90141-9.
  4. Kambham, Neeraja; et al. (1999). "Heavy chain deposition disease: The disease spectrum". American Journal of Kidney Diseases. 33 (5): 954–962. doi:10.1016/S0272-6386(99)70432-4.
  5. Ra, Kyle; et al. (1995). "Primary systemic amyloidosis: clinical and laboratory features in 474 cases". PMID 7878478.
  6. Preud'homme, Jean-Louis; et al. (1994). "Monoclonal immunoglobulin deposition disease (Randall type). Relationship with structural abnormalities of immunoglobulin chains". Kidney International. 46 (4): 965–972. doi:10.1038/ki.1994.355.
  7. Preud'Homme, Jean-Louis; et al. (1994). "Monoclonal immunoglobulin deposition disease: A review of immunoglobulin chain alterations". International Journal of Immunopharmacology. 16 (5–6): 425–431. doi:10.1016/0192-0561(94)90032-9.
  8. Serpell, L. C.; et al. (1997). "The molecular basis of amyloidosis". Cellular and Molecular Life Sciences. 53 (12): 871. doi:10.1007/s000180050107.
  9. 9.0 9.1 McKenna RW, et al., (2017). Plasma cell neoplasms: Monoclonal immunoglobulin deposition diseases, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow, SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p254-255.
  10. Ra, Kyle; et al. (1992). "Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989". PMID 1558973.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.