Ocular Cytopathology

An atlas that features the cytologic findings of the normal features and diseases of the eye.

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Sunday, October 02, 2005

CHAPTER 9- MALIGNANT NEOPLASMS- LYMPHOMA, RETINOBLASTOMA,

In this chapter, malignant neoplasms of the eye are illustrated. Iris and ciliary body melanomas were presented in Chapter 5. Orbital and periorbital tumors are discussed in Chapter 10.
Only a few malignant tumors originate in the eye. Interpretation of aspirates from these tumors is not difficult if sampling is adequate and one is familiar with their specific criteria. Some primary ocular tumors have different criteria for diagnosis than analogous systemic neoplasms (e.g., melanoma). Diagnosis of other tumors is complicated by inherent difficulty in obtaining adequate material (e.g., lymphoma).

MALIGNANT LYMPHOMA

Intraocular lymphomas are rare and usually associated with involvement of the central nervous system. [1, 2, 3, 4, 5] Patients frequently have blurred vision without pain and characteristic yellow lesions under the retinal pigment epithelium (Figure 9-1). [6] However, ocular involvement may be confined to the vitreous cavity. When vitreous cells are present, the diagnosis may be made by vitreous aspirate or vitrectomy. Cytospin preparation or direct smears of vitreous reveal atypical lymphoid cells with prominent nucleoli (Figure 9-2). Most intraocular lymphomas contain large cells that have B-cell immunophenotypic markers. Because of the scant material obtained, it is often very difficult to make an unequivocal diagnosis of malignancy. In addition, hyaluronic acid in the vitreous may nonspecifically bind antibody making immunphenotypic markers difficult to interpret. Some authors suggest that morphologic analysis is more accurate than immunophenotypic analysis (B-and T-cell markers) in this setting. [7, 8] Hyaluronidase-treated vitreous samples may improve the accuracy of immunphenotypic analysis by flow cytometry. [9]

RETINOBLASTOMA

Retinoblastoma manifests early in childhood as leukocoria. [10, 11] In the genetic form it is inherited in an autosomal dominant fashion, but at the molecular level it behaves as an autosomal recessive defect. [12, 13, 14, 15, 16] Retinoblastoma is associated with the homozygous deletion or alternation of a well-characterized gene in the chromosome region 13q14. [17, 18, 19, 20]
Retinoblastoma appears as a white mass arising from the retina (Figures 9-3 and 9-4). It is a small-cell tumor and is characterized by areas of necrosis, calcification, Flexner-Wintersteiner rosettes, Homer Wright rosettes, and, rarely, fleurettes (Figure 9-5). [21- 23, 24]Intraocular and orbital fine needle aspirations of retinoblastoma have been described. [25] However, it is generally recommended that fine needle aspiration and other procedures to sample retinoblastoma be avoided because seeding has been documented. [26, 27] This is a controversial subject. Cytologic preparations reveal a small cell tumor with necrosis and streaming of deoxyribonucleic acid (DNA) (Figure 9-6). [28] Rosettes have been reported, but they are rarely identified. [29]

References

1. Barr CC, et al. Intraocular reticulum-cell sarcoma: clinico-pathologic study of four cases and review of the literature. Surv Ophthalmol. 1975 Jan-Feb;19(4):224-39.
2. Parver LM, et al. Malignant lymphoma of the retina and brain. Initial diagnosis by cytologic examination of vitreous aspirate. Arch Ophthalmol. 1979 Aug;97(8):1505-7.
3. Wagoner MD, Ocular pathology for clinicians: 3. Intraocular reticulum cell sarcoma. Ophthalmology. 1980 Jul;87(7):724-7.
4. Lang GK, Ocular reticulum cell sarcoma. Clinicopathologic correlation of a case with multifocal lesions. Retina. 1985 Spring-Summer;5(2):79-86.
5. Michelson JB, Ocular reticulum cell sarcoma. Presentation as retinal detachment with demonstration of monoclonal immunoglobulin light chains on the vitreous cells. Arch Ophthalmol. 1981 Aug;99(8):1409-11.
6. Qualman SJ, et al. Cancer. 1983 Sep 1;52(5):878-86.
7. Char Dh, et al. Br J Ophthalmol. 1988 Dec;72(12):905-11.
8. Ljung BM, et al. Acta Cytol. 1988 Nov-Dec;32(6):840-7.
9. Wilson DJ, Braziel R, Rosenbaum JT, Intraocular lymphoma: Immunopathologic analysis of vitreous biopsies. Invest Opthalmol 1990;31:368.
10. Albert DM. Ophthalmology. 1987 Jun;94(6):654-62.
11. Sang DN, et al. Hum Pathol. 1982 Feb;13(2):133-47.
12. Driya TP, Cavene W, White R, Rapaport JM, Peterson et al. Homozygosity of chromosome qe in retinoblastoma. N Engl J Med 1984; 310:550.
13. Vogel F. Hum Genet. 1979 Nov 1;52(1):1-54.
14. Murphree AL, et al. Science. 1984 Mar 9;223(4640):1028-33.
15. Wiggs DL, Dryia TP, Predicting the risk of hereditary retinoblastoma. Am J Opthalmol 1988; 106:346-351.
16. Dunn JM, et al. Science. 1988 Sep 30;241(4874):1797-800.
17. Lee W-H, et al. Science. 1987 Mar 13;235(4794):1394-9.
18. Friend SH, et al. Nature. 1986 Oct 16-22;323(6089):643-6.
19. Harbour JW, et al. Science. 1988 Jul 15;241(4863):353-7.
20. T’and A, et al. Science. 1988 Oct 14;242(4876):263-6.
21. Tso MOM, Fine BS, Zimmerman LE. The nature of retinoblastoma II. An electron microscope study. Am J Opthalmol 1970;69:350-55.
22. Tso MOM, Fine BS, Zimmerman LE. The Flexner-Wintersteiner rosettes in retinoblastoma. Arch Pathol 1969; 88:664-671.
23. Rodrigues MM, et al. Ophthalmology. 1987 Apr;94(4):378-87.
24. Yanoff M, Fine BS. Ocular Pathology. A text and atlas. Philadelphia J.B. Lippincott 1989.
25. Char DH, et al. Am J Ophthalmol. 1984 Jun;97(6):686-90.
26. Rodriguez A., Mod Probl Ophthalmol. 1977;18:142-8.
27. Karcioglu ZA, et al. Tumor seeding in ocular fine needle aspiration biopsy Ophthalmology. 1985 Dec;92(12):1763-7.
28. Rosenthal DL, Mandell DB, Glasgow BJ. Eye. In: Bibblo M, ed. Comprehensive cytology. Philadelphia: W.B. Saunders, 1991;484-501.
29. Scroggs MW, Acta Cytol. 1990 May-Jun;34(3):401-8.



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