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Ординатура / Офтальмология / Английские материалы / Ocular Pathology_6th edition_Yanoff, Sassani_2009

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Neoplasms and other tumors 581

2). The percentage of CDR+, CD7cells is elevated in the peripheral blood of patients who have Sézary’s syndrome.

3). Although mycosis fungoides rarely involves the orbit, it does so more commonly than the other T-cell lymphomas.

Very rarely, mycosis fungoides can involve the vitreous.

4). Altered forms of the retrovirus HTLV-I and

HTLV-II have been incriminated in the causation of some cases of mycosis fungoides and Sézary’s syndrome.

E.Hodgkin’s disease‡

1.Hodgkin’s disease very rarely presents initially with orbital involvement, and orbital involvement is rare in any stage of the disease.

2.Hodgkin’s disease may be a direct consequence of a bcl-2 translocation through additional genomic events to be clarified in the future.

The bcl-2 oncogene acts mainly on the pathways of apoptosis (programmed death) and plays a crucial role in the control of cellular growth of lymphoid and nonlymphoid cells. Two other types of oncogenes are recognized: oncogenes such as myc, ras, and abl act as growth and proliferative regulatory genes; and oncogenes such as Rb and p53 inhibit growth and proliferation.

3.Di erentiation of Hodgkin’s disease from non-

Hodgkin’s lymphoma is based on finding Reed–

Sternberg cells in the former. Also helpful is the presence of markers for the Reed–Sternberg cells

[e.g., CD30 (Ki-1), and CD15], and the absence of

CD45.

In the absence of any Reed–Sternberg cells and the presence of CD30 positivity, the diagnosis of anaplastic Ki-1+

(CD30) large cell lymphoma should be considered. Four types of Ki-1+ large cell lymphoma may exist: common,

Hodgkin’s-related, giant cell-rich, and lymphohistiocytic. The tumor cells stain intensely positive with CD30. Approximately 70% of cases are of T-cell type, 15% are of B-cell type, 5% are mixed B- and T-cell types, and 10% are null type.

4.Epstein–Barr virus is found in a high percentage of cases of Hodgkin’s disease (see p. 63 in Chapter 3)

5.The origin of the neoplastic cells in Hodgkin’s disease remains an enigma in spite of the advances in immunology, cytogenetics, and molecular biology.

IX. Leukemia† (Fig. 14.47; see p. 353 in Chapter 9)

A.Orbital leukemic infiltrates most commonly occur late in the disease.

B.Occasionally, acute leukemia, usually granulocytic (myeloid or myelogenous) or stem cell, may present

initially with exophthalmos. Acute angle closure glaucoma has accompanied bilateral orbital infiltration with acute myeloid leukemia. Ultrasonography revealed uveoscleral thickening and anterior rotation of the ciliary body.

Rarely, the first sign of granulocytic leukemia relapse is ocular adnexal involvement. Occasionally, granulocytic sarcoma of the orbit has been reported as an isolated lesion.

1.The initial blood count may be normal or low with no circulating leukemic cells.

2.The bone marrow initially may be normal or hypocellular.

3.Exophthalmos is caused by an infiltrate of leukemic cells, called myeloid (granulocytic) sarcoma.

Because the pigment myeloperoxidase is sometimes present, the tumors appear greenish; hence the term chloroma.

The World Health Organization recommends the term myeloid sarcoma for a localized extramedullary tumor composed of immature myeloid cells; other terms are chloroma and granulocytic sarcoma.

4.Approximately two-thirds of patients who have myeloid leukemia present with some blurring of vision and accompanying fundus changes.

C.Histologically, leukemic cells infiltrate the orbit (see p. 353 in Chapter 9).

1.Auer rods (splinter-shaped, azurophilic, cytoplasmic crystalline inclusions) may be found in the blast cells of acute myeloid leukemia (see Fig.

14.47D).

2.The myeloid nature of the tumor is identified by chloroacetate esterase staining of the neoplastic cells.

The cells are CD43, CD45, Leder, and antilysozyme positive.

X.Monoclonal and polyclonal gammopathies‡

A.Monoclonal (single species of antibody) and polyclonal (multiple species of antibodies) macroglobulinemia may be seen in a variety of lymphoproliferative disorders such as nodular lymphoid hyperplasia, immunoblastic lymphadenopathy,nodular malignant lymphoma, and the plasma cell dyscrasias multiple myeloma, Waldenström’s macroglobulinemia, and the rare entities such as light-chain deposition disease and heavy-chain disease.

1.Monoclonal gammopathies are immunoglobulin products of single clones of plasma cells and B lymphocytes; polyclonal gammopathies are produced by more than one clone.

2.Most monoclonal gammopathies do not evolve into a malignant condition (all polyclonal gammopathies do not so evolve) and are termed monoclonal gammopathies of undetermined significance.

582 Ch. 14: Orbit

l

l

 

s

s

A B

b

b

r

r

C D

Fig. 14.47 Leukemia. A, A 9-year-old boy who presented with a left, painless exophthalmos died approximately 2 years after diagnosis. Initially, the work-up, including a complete blood count, showed normal results. Orbital biopsy was performed. B, Histologic section shows a diffuse cellular infiltratae of primitive granulocytic leukemic cells (l, large blast cells; s, small blast cells). C, Bone marrow smear shows blast cells (b, blast cells; r, red blood cells). Acute granulocytic leukemia diagnosed. D, A touch preparation of another case of granulocyte sarcoma shows Auer rods. (Case in

A–C reported by Brooks HW et al.: Arch Otolaryngol 100:304, 1974; D, courtesy of Dr. RC Eagle, Jr., who presented case to the meeting of the Verhoeff Society, 1994.)

B.Multiple myeloma‡ (Fig. 14.48)

1.Multiple myeloma shows evidence of bone marrow plasmacytosis, monoclonal gammopathy in serum or urine (Bence Jones protein), and lytic bone lesions.

2.Direct orbital infiltration by myeloma cells, mimicking a primary orbital tumor, is uncommon.

a.The orbital involvement, however, may be the initial manifestation of the systemic disease.

b.Solitary orbital extramedullary plasmocytoma is a rare tumor; fewer than 15 cases have been described.

Some cases show necrobiotic xanthogranuloma of the eyelid. The eyelids may also show characteristic hemorrhagic lesions (see Fig. 7.13).

C.Waldenström’s macroglobulinemia‡

1.Waldenström’s macroglobulinemia is a small B-cell lymphocytic lymphoma that produces monoclonal

IgM, a pentameric immunoglobulin of high molecular weight.

2.Clinical symptoms are mainly related to anemia, bleeding, or symptoms of hyperviscosity.

A progressive macroglobulinemia-associated retinopathy may develop with associated antibodies against the connecting cilia of the photoreceptors.

D.In vitro immunologic and immunohistochemical techniques can aid in the diagnosis of plasma cell infiltrates.

E.Corneal, and even iris, crystals can be found in some patients who have monoclonal gammopathy.

F.Intranuclear and intracytoplasmic inclusions may be found in plasma cells and lymphocytes.

1.Intranuclear inclusions (Dutcher bodies; see Fig. 14.43D) are PAS-positive collections of monoclonal macroglobulins.

Neoplasms and other tumors 583

Fig. 14.48 Multiple myeloma. A, Left exophthalmos present. B, Computed tomography scan shows mass (+) in orbital region. C, Immunoperoxidase-stained sections show many plasma cells with negative staining for λ light chains on left panel and positive staining for κ light chains on right. D, Electron microscopy shows abnormal plasma cells. (Case presented by Dr. MW Scroggs to the meeting of the Eastern Ophthalmic Pathology Society, 1989.)

Actually, the inclusions are cytoplasmic invaginations into the nucleus. In some cases, the inclusions show no PAS positivity.

2.Intracytoplasmic inclusions (Russell bodies; see Fig. 1.13, and p. 12 in Chapter 1) are PAS-positive collections of monoclonal or polyclonal macroglobulins.

Secondary Orbital Tumors

I.Direct extension†

A.Intraocular neoplasms, especially malignant melanoma and retinoblastoma

B.Eyelid neoplasms, especially basal cell carcinoma, squamous cell carcinoma, malignant melanoma, and sebaceous gland carcinoma

C.Conjunctival neoplasms, especially squamous cell carcinoma and malignant melanoma

D.Paranasal sinus cysts (mucoceles; Fig. 14.49) and neoplasms, especially squamous cell carcinoma, adenoid cystic carcinoma (malignant cylindroma), and mucoepidermoid carcinoma

E.Intracranial, especially meningioma II. Metastatic†

A.Neuroblastoma in children usually occurs as a late manifestation of the disease. Frequently, the orbital metastases are heralded by the onset of lower-lid ecchymosis (Fig. 14.50).

B.Lung carcinoma in adult men

C.Breast and lung carcinoma in adult women

In the past, breast carcinoma was much more common in women than lung carcinoma. With increased smoking by women, however, lung carcinoma has become much more common. Lung carcinoma tends to metastasize early, whereas breast metastases tend to be a late manifestation.

D.All other sites of primary neoplasms are rare.

584 Ch. 14: Orbit

A B

Fig. 14.49 Orbital mucocele. A, A 66-year-old man had left exophthalmos for 6 months and a 40-year history of sinusitis and a number of facial injuries. B, Histologic section of the surgically removed mucocele shows that the lumen is lined by respiratory-type, pseudostratified, ciliated columnar epithelium (shown with increased magnification in C) and contains scattered round inflammatory cells in its wall. (Courtesy of Dr. WR Green.)

C

Bibliography 585

Fig. 14.50 Metastatic neuroblastoma. A, A 12-year-old child who had had abdominal neuroblastoma at age 4 years presented with sudden-onset ecchymosis of right lower lid. B, Computed tomography scan shows mass in right temporal fossa and erosion into sphenoid sinus and orbit. Histologic appearance similar to retinoblastoma in bone marrow (C) and orbit (D). (Case presented by Dr. E Torczynski at the meeting of the Eastern Opthalmic Society, 1994.)

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Tumors: Hamartomas

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Jakobiec FA: Solitary fibrous tumor. Presented at the meeting of the Verhoe Society, 1994

Jakobiec FA, Klapper D, Maher E et al.: Infantile subconjunctival and anterior orbital fibrous histiocytoma: Ultrastructural and immunohistochemical studies. Ophthalmology 95:516, 1988

Jakobiec FA, Sacks E, Lisman RL et al.: Epibulbar fibroma of the conjunctival substantia propria. Arch Ophthalmol 106:661, 1988

John T, Yano M, Scheie HG: Eyelid fibrous histiocytoma: Ophthalmology 88:1193, 1981

Jones WD III, Yano M, Katowitz JA: Recurrent facial fibrous histiocytoma. Br J Plast Surg 32:46, 1979

Krishnakumar S, Subramanian N, Mohan ER et al.: Solitary fibrous tumor of the orbit: a clinicopathologic study of six cases with review of the literature. Surv Ophthalmol 48:544, 2003

Lakshminarayanan R, Konia T, Welborn J: Fibrous hamartoma of infancy. Arch Pathol Lab Med 129:520, 2005

Linder JS, Harris GJ, Segura AD: Periorbital infantile myofibromatosis.

Arch Ophthalmol 114:219, 1996

Ma CK, Zarbo RJ, Gown AM: Immunohistochemical characterization of atypical fibroxanthoma and dermatofibrosarcoma protuberans. Am J Clin Pathol 97:478, 1992

Martin AJ, Summersgill BM, Fisher C et al.: Chromosomal imbalances in meningeal solitary fibrous tumors. Cancer Genet Cytogenet 135:160, 2002

Rice CD, Gross DJ, Dinehart SM et al.: Atypical fibroxanthoma of the eyelid and cheek. Arch Ophthalmol 109:922, 1991

Scott IU, Tanenbaum M, Rubin D et al.: Solitary fibrous tumor of the lacrimal gland fossa. Ophthalmology 103:1613, 1996

Song A, Syed N, Kirby PA et al.: Giant cell angiofibroma of the ocular adnexae. Arch Ophthalmol 123:1438, 2005

Weiner JM, Hidayat AA: Juvenile fibrosarcoma of the orbit and eyelid.

Arch Ophthalmol 101:253, 1983

Westfall AC, Mansoor A, Sullivan SS et al.: Orbital and periorbital myofibromas in childhood: two case reports. Ophthalmology 110:2000, 2003

Westra WH, Gerald WL, Rosai J: Solitary fibrous tumor of the orbit: consistent CD34 immunoreactivity and occurrence in the orbit. Am J Surg Pathol 18:992, 1994

White VA, Heathcote G, Hurwitz JJ et al.: Epithelioid sarcoma of the orbit. Ophthalmology 101:1689, 1994

Wiley EL, Stewart D, Brown M et al.: Fibrous histiocytoma of the parotid gland. Am J Clin Pathol 97:512, 1992

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Tumors: Mesenchymal–Muscle

Azumi N, Ben-Ezra J, Battifora H: Immunophenotypic diagnosis of leiomyosarcomas and rhabdomyosarcomas with monoclonal antibodies to muscle-specific actin and desmin in formalin-fixed tissue. Mod Pathol 1:469, 1988

Barr FG, Chatten J, D’Cruz et al.: Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA 273:553, 1995

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Furman J, Murphy WM, Jelsma PF et al.: Primary primitive neuroectodermal tumor of the kidney: Case report and review of the literature.

Am J Clin Pathol 106:339, 1996

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Am J Clin Pathol 106:282, 1996

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Shields JA, Font RL, Eagle RC et al.: Melanotic schwannoma of the choroid. Ophthalmology 101:843, 1994

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Candy EJ, Miller NR, Carson BS: Myxoma of bone involving the orbit.

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Tumors: Epithelial of Lacrimal Gland

Alyahya GA, Stenman G, Persson F et al.: Pleomorphic adenoma arising in an accessory lacrimal gland of Wolfring. Ophthalmology 113:879, 2006

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Conlon MR, Chapman WB, Burt WL et al.: Primary localized amyloidosis of the lacrimal glands. Ophthalmology 98:1556, 1991

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Font RL, Patipa M, Rosenbaum PS et al.: Correlation of computed tomographic and histopathologic features in malignant transformation of benign mixed tumor of lacrimal gland. Surv Ophthalmol 34:449, 1990

Font RL, Smith SL, Bryan RG: Malignant epithelial tumors of the lacrimal gland: A clinicopathologic study of 21 cases. Arch Ophthalmol 116:589, 1998

Grossniklaus HE, Abbuhl MF, McLean IW: Immunohistologic properties of benign and malignant mixed tumor of the lacrimal gland. Am J Ophthalmol 110:540, 1990

Grossniklaus HE, Wojno TH, Wilson MW et al.: Myoepithelioma of the lacrimal gland. Arch Ophthalmol 115:1588, 1997

Harris NL: Lymphoid proliferations of the salivary glands. Am J Clin Pathol 111(Suppl. 1):S94, 1999

Heathcote JG, Hurwitz JJ, Dardick I: A spindle-cell myoepithelioma of the lacrimal gland. Arch Ophthalmol 108:1135, 1990

Khalil M, Arthurs B: Basal cell adenocarcinoma of the lacrimal gland.

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Levin LA, Popham J, To K et al.: Mucoepidermoid carcinoma of the lacrimal gland. Ophthalmology 98:1551, 1991

Milman T, Shields JA, Husson M et al.: Primary ductal adenocarcinoma of the lacrimal gland. Ophthalmology 112:2052S, 2005

Ostrowski ML, Font RL, Halpern J et al.: Clear cell epithelial-myoepi- thelial carcinoma arising in pleomorphic adenoma of the lacrimal gland. Ophthalmology 101:925, 1994

Rao NA, Kaiser E, Quiros PA et al.: Lymphoepithelial carcinoma of the lacrimal gland. Arch Ophthalmol 120:1745S, 2002

Rodman RC, Frueh BR, Elner VM: Mucoepidermoid carcinoma of the caruncle. Am J Ophthalmol 123:564, 1997

Rosenberg PS, Mahadevia PS, Goodman LA et al.: Acinic cell carcinoma of the lacrimal gland. Arch Ophthalmol 113:781, 1995

Selva D, Davis GJ, Dodd T et al.: Polymorphous low-grade adenocarcinoma of the lacrimal gland. Arch Ophthalmol 122:915, 2004

Shields CL, Shields JA, Eagle RC et al.: Adenoid cystic carcinoma in the nasal orbit. Am J Ophthalmol 123:398, 1997

Shields CL, Shields JA, Eagle RC et al.: Adenoid cystic carcinoma of the lacrimal gland simulating a dermoid cyst in a 9-year-old boy. Arch Ophthalmol 116:1673, 1998

Tellado MV, McClean IW, Specht CS et al.: Adenoid cystic carcinomas of the lacrimal gland in childhood and adolescence. Ophthalmology 104:1622, 1997

Vangveeravong S, Katz SE, Rootman J et al.: Tumors arising in the palpebral lobe of the lacrimal gland. Ophthalmology 103:1606, 1996

Zimmerman LE, Stangl R, Riddle PJ: Primary carcinoid tumor of the orbit: A clinicopathologic study with histochemical and electron microscopic observations. Arch Ophthalmol 101:1395, 1983

Tumors: Reticuloendothelial System

Allaire GS, Hidayat AA, Zimmerman LE et al.: Reticulohistiocytoma of the limbus and cornea. Ophthalmology 97:1018, 1990

Ben-Ezra JM, Koo CH: Langerhans’ cell histiocytosis and malignancies of the M-Pire system. Am J Clin Pathol 99:464, 1993

Chikama T-I, Yoshino H, Nishida T et al.: Langerhans cell histiocytosis localized to the eyelid. Arch Ophthalmol 116:1375, 1998

Demirci H, Shields CL, Shields JA et al.: Bilateral sequential orbital involvement by eosinophilic granuloma. Arch Ophthalmol 120:978, 2002

DeStafeno JJ, Carlson A, Myer DR: Solitary spindle-cell xanthogranuloma of the eye lid. Ophthalmology 109:258, 2002

Font RL, Rosenbaum PS, Smith JL: Lymphomatoid granulomatosis of eyelid and brow with progression to lymphoma. J Am Acad Dermatol

23:334, 1990

Harbour JW, Char DH, Ljung BM et al.: Langerhans cell histiocytosis diagnosed by fine needle biopsy. Arch Ophthalmol 115:1212, 1997

Hogan MJ, Zimmerman LE, eds: Ophthalmic Pathology: An Atlas and Textbook. Philadelphia, WB Saunders, 1962:778

Ireland KC, Hutchinson AK, Grossniklaus HE: Sinus histiocytosis presenting as bilateral epibulbar masses. Am J Ophthalmol 127:360, 1999

Jordan DR, McDonald H, Noel L et al.: Eosinophilic granuloma. Arch Ophthalmol 111:134, 1993

Kramer TR, Noecker RJ, Miller JM et al.: Langerhans cell histiocytosis with ocular involvement. Am J Ophthalmol 124:814, 1997

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