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. 1996 Nov;80(11):1013–1017. doi: 10.1136/bjo.80.11.1013

Monoclonal origin of localised orbital amyloidosis detected by molecular analysis.

S Pasternak 1, V A White 1, R D Gascoyne 1, S R Perry 1, R L Johnson 1, J Rootman 1
PMCID: PMC505682  PMID: 8976732

Abstract

AIMS: Primary localised orbital amyloidosis is a rare disease. The purpose of this study was to describe two cases of primary orbital amyloidosis and emphasise the value of molecular analysis of immunoglobulin gene rearrangement in identifying a monoclonal population of cells responsible for the amyloid production. METHODS: Charts and biopsy specimens of each case were reviewed. Conventional light microscopy, immunohistochemistry, and polymerase chain reaction (PCR) analysis for immunoglobulin gene rearrangement were performed in both cases. RESULTS: An unusual presentation of localised primary amyloidosis with bilateral and extensive enlargement of multiple extraocular muscles was seen in case 1. The presence of amyloid deposits was confirmed by biopsy in both cases. Evidence of a monoclonal population of plasma cells was shown by immunohistochemical analysis in case 2 only. The monoclonal origin of the cells responsible for the amyloid deposition was determined by PCR analysis demonstrating immunoglobulin heavy chain gene rearrangement in both cases. CONCLUSIONS: A monoclonal population of plasma cells responsible for the amyloid deposition was present in these two cases. PCR analysis is extremely helpful in determining monoclonality, a finding that may have important therapeutic and prognostic implications.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Berg A. M., Troxler R. F., Grillone G., Kasznica J., Kane K., Cohen A. S., Skinner M. Localized amyloidosis of the larynx: evidence for light chain composition. Ann Otol Rhinol Laryngol. 1993 Nov;102(11):884–889. doi: 10.1177/000348949310201112. [DOI] [PubMed] [Google Scholar]
  2. Chen K. T., Flam M. S., Workman R. D. Amyloid tumor of the spleen. Am J Surg Pathol. 1987 Sep;11(9):723–725. doi: 10.1097/00000478-198709000-00008. [DOI] [PubMed] [Google Scholar]
  3. Cohen A. S., Connors L. H. The pathogenesis and biochemistry of amyloidosis. J Pathol. 1987 Jan;151(1):1–10. doi: 10.1002/path.1711510102. [DOI] [PubMed] [Google Scholar]
  4. Cohen M. M., Lessell S. Amyloid tumor of the orbit. Neuroradiology. 1979 Sep 26;18(3):157–159. doi: 10.1007/BF00346872. [DOI] [PubMed] [Google Scholar]
  5. Cohen M., Lanska D., Roessmann U., Karaman B., Ganz E., Whitehouse P., Gambetti P. Amyloidoma of the CNS. I. Clinical and pathologic study. Neurology. 1992 Oct;42(10):2019–2023. doi: 10.1212/wnl.42.10.2019. [DOI] [PubMed] [Google Scholar]
  6. Conlon M. R., Chapman W. B., Burt W. L., Larocque B. J., Hearn S. A. Primary localized amyloidosis of the lacrimal glands. Ophthalmology. 1991 Oct;98(10):1556–1559. doi: 10.1016/s0161-6420(91)32088-8. [DOI] [PubMed] [Google Scholar]
  7. Ehara H., Deguchi T., Yanagihara M., Yokota T., Uchino F., Kawada Y. Primary localized amyloidosis of the bladder: an immunohistochemical study of a case. J Urol. 1992 Feb;147(2):458–460. doi: 10.1016/s0022-5347(17)37272-5. [DOI] [PubMed] [Google Scholar]
  8. Erie J. C., Garrity J. A., Norman M. E. Orbital amyloidosis involving the extraocular muscles. Arch Ophthalmol. 1989 Oct;107(10):1428–1429. doi: 10.1001/archopht.1989.01070020502019. [DOI] [PubMed] [Google Scholar]
  9. Finlay K. R., Rootman J., Dimmick J. Optic neuropathy in primary orbital amyloidosis. Can J Ophthalmol. 1980 Oct;15(4):189–192. [PubMed] [Google Scholar]
  10. Glenner G. G. Amyloid deposits and amyloidosis. The beta-fibrilloses (first of two parts). N Engl J Med. 1980 Jun 5;302(23):1283–1292. doi: 10.1056/NEJM198006053022305. [DOI] [PubMed] [Google Scholar]
  11. Glenner G. G. Amyloid deposits and amyloidosis: the beta-fibrilloses (second of two parts). N Engl J Med. 1980 Jun 12;302(24):1333–1343. doi: 10.1056/NEJM198006123022403. [DOI] [PubMed] [Google Scholar]
  12. Greiner T. C., Gascoyne R. D., Anderson M. E., Kingma D. W., Adomat S. A., Said J., Jaffe E. S. Nodular lymphocyte-predominant Hodgkin's disease associated with large-cell lymphoma: analysis of Ig gene rearrangements by V-J polymerase chain reaction. Blood. 1996 Jul 15;88(2):657–666. [PubMed] [Google Scholar]
  13. Holmström G. E., Nyman K. G. Primary orbital amyloidosis localised to an extraocular muscle. Br J Ophthalmol. 1987 Jan;71(1):32–33. doi: 10.1136/bjo.71.1.32. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Husby G., Sletten K. Chemical and clinical classification of amyloidosis 1985. Scand J Immunol. 1986 Mar;23(3):253–265. doi: 10.1111/j.1365-3083.1986.tb01966.x. [DOI] [PubMed] [Google Scholar]
  15. Jensen K., Raynor S., Rose S. G., Bailey S. T., Schenken J. R. Amyloid tumors of the gastrointestinal tract: a report of two cases and review of the literature. Am J Gastroenterol. 1985 Oct;80(10):784–786. [PubMed] [Google Scholar]
  16. Khan S. M., Birch P. J., Bass P. S., Williams J. H., Theaker J. M. Localized amyloidosis of the lower genitourinary tract: a clinicopathological and immunohistochemical study of nine cases. Histopathology. 1992 Aug;21(2):143–147. doi: 10.1111/j.1365-2559.1992.tb00362.x. [DOI] [PubMed] [Google Scholar]
  17. Knowles D. M., 2nd, Jakobiec F. A., Rosen M., Howard G. Amyloidosis of the orbit and adnexae. Surv Ophthalmol. 1975 May-Jun;19(6):367–384. [PubMed] [Google Scholar]
  18. Krishnan J., Chu W. S., Elrod J. P., Frizzera G. Tumoral presentation of amyloidosis (amyloidomas) in soft tissues. A report of 14 cases. Am J Clin Pathol. 1993 Aug;100(2):135–144. doi: 10.1093/ajcp/100.2.135. [DOI] [PubMed] [Google Scholar]
  19. Levine M. R., Buckman G. Primary localized orbital amyloidosis. Ann Ophthalmol. 1986 May;18(5):165–167. [PubMed] [Google Scholar]
  20. Lewis J. E., Olsen K. D., Kurtin P. J., Kyle R. A. Laryngeal amyloidosis: a clinicopathologic and immunohistochemical review. Otolaryngol Head Neck Surg. 1992 Apr;106(4):372–377. doi: 10.1177/019459989210600410. [DOI] [PubMed] [Google Scholar]
  21. Lucas D. R., Knox F., Davies S. Apparent monoclonal origin of lymphocytes and plasma cells infiltrating ocular adnexal amyloid deposits: report of 2 cases. Br J Ophthalmol. 1982 Sep;66(9):600–606. doi: 10.1136/bjo.66.9.600. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Möllers M. J., van Schaik J. P., van der Putte S. C. Pulmonary amyloidoma. Histologic proof yielded by transthoracic coaxial fine needle biopsy. Chest. 1992 Nov;102(5):1597–1598. doi: 10.1378/chest.102.5.1597. [DOI] [PubMed] [Google Scholar]
  23. Nehen J. H. Primary localized orbital amyloidosis. Acta Ophthalmol (Copenh) 1979 Apr;57(2):287–295. doi: 10.1111/j.1755-3768.1979.tb00493.x. [DOI] [PubMed] [Google Scholar]
  24. Sandgren O. Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement. Surv Ophthalmol. 1995 Nov-Dec;40(3):173–196. doi: 10.1016/s0039-6257(95)80025-5. [DOI] [PubMed] [Google Scholar]
  25. Silverman J. F., Dabbs D. J., Norris H. T., Pories W. J., Legier J., Kay S. Localized primary (AL) amyloid tumor of the breast. Cytologic, histologic, immunocytochemical and ultrastructural observations. Am J Surg Pathol. 1986 Aug;10(8):539–545. doi: 10.1097/00000478-198608000-00003. [DOI] [PubMed] [Google Scholar]
  26. Tan S. Y., Murdoch I. E., Sullivan T. J., Wright J. E., Truong O., Hsuan J. J., Hawkins P. N., Pepys M. B. Primary localized orbital amyloidosis composed of the immunoglobulin gamma heavy chain CH3 domain. Clin Sci (Lond) 1994 Nov;87(5):487–491. doi: 10.1042/cs0870487. [DOI] [PubMed] [Google Scholar]
  27. Tan S. Y., Pepys M. B. Amyloidosis. Histopathology. 1994 Nov;25(5):403–414. doi: 10.1111/j.1365-2559.1994.tb00001.x. [DOI] [PubMed] [Google Scholar]
  28. Toyoda M., Ebihara Y., Kato H., Kita S. Tracheobronchial AL amyloidosis: histologic, immunohistochemical, ultrastructural, and immunoelectron microscopic observations. Hum Pathol. 1993 Sep;24(9):970–976. doi: 10.1016/0046-8177(93)90110-3. [DOI] [PubMed] [Google Scholar]
  29. Vidal R. G., Ghiso J., Gallo G., Cohen M., Gambetti P. L., Frangione B. Amyloidoma of the CNS. II. Immunohistochemical and biochemical study. Neurology. 1992 Oct;42(10):2024–2028. doi: 10.1212/wnl.42.10.2024. [DOI] [PubMed] [Google Scholar]
  30. Warner K. J., Blackwell G. G., Herrera G. A., Listinsky C., Holman W. L., Rustagi P. K. Cardiac amyloidoma with IgM-kappa gammopathy. Arch Pathol Lab Med. 1994 Nov;118(11):1148–1150. [PubMed] [Google Scholar]
  31. da Costa P., Corrin B. Amyloidosis localized to the lower respiratory tract: probable immunoamyloid nature of the tracheobronchial and nodular pulmonary forms. Histopathology. 1985 Jul;9(7):703–710. doi: 10.1111/j.1365-2559.1985.tb02856.x. [DOI] [PubMed] [Google Scholar]

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