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

PRIMARY ORBITAL TUMORS

Choristomas

Epidermoid cyst†

Dermoid cyst† (see Figs 14.12 and 14.13)

Teratoma‡ (see Fig. 14.14)

Ectopic lacrimal gland‡ (see Fig. 14.15)

Hamartomas

Phakomatoses† (see Chapter 2)

Hemangioma

Capillary hemangioma† (see Figs 14.16 and 14.17)

Cavernous hemangioma† (see Fig. 14.18)

Arteriovenous communication‡ (see Chapter 2)

Telangiectasia‡ (see Chapter 2)

Lymphangioma† (see Fig. 14.19)

Mesenchymal Tumors

Vascular Hemangiopericytoma‡

Glomus tumor‡ (see Fig. 14.20) Hemangiosarcoma‡

Kaposi’s sarcoma‡ (see Fig. 14.21) Fatty

Lipoma† (see Fig. 14.22) Liposarcoma‡ (see Fig. 14.23)

Fibrous

Reactive fibrous proliferations Nodular fasciitis†

Juvenile fibromatosis‡ Neoplastic fibrous proliferations

Fibrous histiocytoma† (see Fig. 14.24) Fibroma‡ and fibrosarcoma‡ (see Fig. 14.25) Solitary fibrous tumor‡

Giant cell angiofibroma‡ Muscle

Leiomyoma (see Fig. 14.26)‡ and leiomyosarcoma‡ Mesectodermal leiomyosarcoma‡ (see Chapter 9) Rhabdomyoma‡

Rhabdomyosarcoma† (see Figs 14.27 and 14.28; see also Fig. 17.26) Cartilage

Chondroma‡ and chondrosarcoma‡

Bone

Aneurysmal bone cyst‡

Fibrous dysplasia† (see Fig. 14.29) Giant cell tumor‡

Juvenile fibromatosis‡ Leontiasis ossea‡

Osteitis fibrosa cystica†

Osteopetrosis‡ Paget’s disease†

Osteoma‡ and osteogenic sarcoma (osteosarcoma)‡

Neural Tumors

Amputation neuroma‡ Neurofibromas† (see Chapter 2)

Neurilemmoma† (see Figs 14.30 and 14.31) Juvenile pilocystic astrocytoma† (see Chapter 13)

Peripheral primitive neuroectodermal tumors (PNETs)‡ (see Fig. 14.32)

Miscellaneous Tumors

Meningioma† (see Chapter 13)

Nonchromaffin paraganglioma‡

Granular cell tumor‡ (see Fig. 14.33)

Alveolar soft-part sarcoma‡ (see Fig. 14.34)

Malignant melanoma‡ (see Chapter 17)

Endodermal sinus tumor‡

Epithelial Cysts and Neoplasms of Lacrimal Gland

Lacrimal ductal cysts†

Benign mixed tumor† (see Fig. 14.35)

Malignant mixed tumor† (see Fig. 14.36)

Adenoid cystic carcinoma† (see Fig. 14.37)

Other types of carcinoma‡ (see Fig. 14.38)

Reticuloendothelial System, Lymphatic System,

and Myeloid System

Reticuloendothelial system

Langerhans’ granulomatoses (histiocytosis X)†

Eosinophilic granuloma† (see Fig. 14.39)

Hand–Schüller–Christian disease†

Letterer–Siwe disease‡ (see Fig. 14.40)

Juvenile xanthogranuloma† (see Chapter 9)

Sinus histiocytosis‡ (see Fig. 14.41)

Inflammatory pseudotumor† (see Fig. 14.42)

Malignant lymphoma† (see Figs. 14.43–14.46)

Leukemia† (see Fig. 14.47)

Multiple myeloma‡ (see Fig. 14.48)

Monoclonal and polyclonal gammopathies‡

SECONDARY ORBITAL TUMORS

Direct Extension† (see Fig. 14.49)

Metastatic†

†The tumor is common, important, or both.

‡The tumor is uncommon, unimportant, or both.

2.Histologically, a dermoid cyst, derived from ectoderm, is composed of a wall surrounding a cavity.

a.The wall is lined by keratinizing, stratified squamous epithelium and contains epidermal appendages (e.g., hair follicles, sebaceous glands, sweat glands).

Rupture of a dermoid cyst can cause a chronic granulomatous inflammatory reaction (Fig. 14.13). Rarely, squamous cell carcinoma may develop in an epidermoid or dermoid cyst.

b.The cavity contains desquamated keratin, hair shafts, and debris.

Fig. 14.13 Dermoid cyst. Rupture of the dermoid cyst has caused a chronic granulomatous inflammatory reaction.

C.Teratoma‡ (Fig. 14.14)

1.An orbital teratoma is an embryonic tumor composed of all three embryonic germinal cell layers

(ectoderm, endoderm, and mesoderm).

A rare teratoma has been reported in an intraocular location. A teratoma can also have both an orbital and an extraorbital (limited intracranial extension) or periorbital (beneath the skin and scalp) location.

2.It characteristically causes massive exophthalmos at birth and may contain structures such as stratified squamous epithelium, colonic mucosa, and central nervous system tissue.

3.It has malignant potential and may also involve the eye.

D.Cholesterol granuloma and cholesteatoma (see p. 534 in this chapter)

E.Ectopic lacrimal gland‡ (Fig. 14.15)

1.Ectopic lacrimal gland consists of lacrimal gland tissue found anywhere except in the lacrimal fossa.

2.It may be associated with other choristomatous tissues such as muscle, nerve, cartilage, or various dermal appendages, or it may occur alone.

3.It usually causes symptoms only when inflamed; the origin of the inflammation is unknown.

4.Histologically, it is composed of relatively normallooking lacrimal gland tissue with a mild inflammatory infiltrate of lymphocytes and plasma cells.

II.Hamartomas—these are congenital tumors normally found at the involved site.

A

C

A.Phakomatoses (see Chapter 2)

B.Hemangioma

1.Capillary hemangioma (“cherry” hemangioma)†

(Fig. 14.16)

a.A capillary hemangioma, the most common periocular vascular tumor in infancy and childhood, is usually solitary, bright red, and smooth.

Another form occurs in middle-aged or older people, often those with cardiovascular problems.

b.Usually, a capillary hemangioma begins before 2 months of age, reaches maximum size by 6 to 12 months, and then tends to regress (involute) spontaneously by 4 to 7 years. Although it usually regresses, it can cause deprivation or anisometropic amblyopia, strabismus, and other problems before regression is attained.

c.A form of capillary hemangioma is found in angiomatosis retinae (see p. 29 in Chapter 2).

d.A variant of capillary hemangioma, often called hemangioendothelioma (Fig. 14.17), is observed at birth (20%), infancy, or early childhood. Typically, it appears suddenly, grows rapidly, and is characterized by relatively solid cords of round,

B

Fig. 14.16 Capillary hemangioma. A, Clinical appearance of tumor. B, Tumor composed of blood vessels of predominantly capillary size. C, High magnification shows capillaries and endothelial cells.

multilayered endothelial cells with little or no evidence of lumen.

The tumor has also been called benign hemangioendothelioma and strawberry, infantile, and juvenile hemangioma. The lesion, although benign, may arise in a number of areas simultaneously and thereby simulate invasion and malignancy. The tumor almost always regresses spontaneously. Histologically, it consists mainly of plump endothelial cells, some of which form a capillary lumen.

e.Histologically, the capillary hemangioma is composed primarily of capillaries lined by plump endothelial cells.

2.Cavernous hemangioma† (orbital cavernoma) (Fig. 14.18)

a. Cavernous hemangioma is the most common primary orbital tumor producing exophthalmos.

b.It may press on the coats of the eye and cause chorioretinal striae.

c.It is a well-encapsulated tumor, usually within the muscle cone, and can often be shelled out easily with little or no bleeding.

A

B

C

Fig. 14.17 Hemangioendothelioma variant of capillary hemangioma. A, Child shows diffuse thickening of right upper lid. B, Biopsy shows tumor composed primarily of endothelial cells and occasional capillaries. C, High magnification shows endothelial cells. (A, Courtesy of Dr. RE Shannon.)

Rarely, the tumor may arise in the orbital bones. Even more rarely, the tumor may be associated with the blue rubber bleb nevus syndrome (multiple cutaneous and visceral bluish-red, rubbery hemangiomas; may be autosomal dominant but most cases are sporadic). If bilateral orbital hemangiomas are present, they may be part of the blue rubber bleb nevus syndrome or Maffuci’s syndrome (nonhereditary disease characterized by hemangiomas and enchondromas).

d.No feeder vessels are demonstrated by dye study techniques.

Rarely, a cavernous hemangioma may bleed and give rise to a hematic cyst. The cyst contains birefringent crystals and altered blood that seem to initiate a granulomatous inflammation (similar to a cholesterol granu- loma—see p. 534 in this chapter). Other causes of hematic cyst include blunt trauma, spontaneous orbital hemorrhage, blood dyscrasias, vascular disease, and lymphangioma.

e.Histologically, it is composed of large, bloodfilled spaces, lined by endothelium and separated by fibrous septa ranging from quite thin to fairly thick.

The endothelial cells of hemangiomas give a strong reaction for factor VIII-related antigen (FVIII-RAG).

3.Arteriovenous communication‡

a.Arteriovenous communication (arteriovenous or varix aneurysm; tumor cirsoides; angiomatous malformation; cirsoid, serpentine, plexiform, racemose, or cavernous angioma) is a rare malformation or developmental anomaly between the arterial and venous systems.

b.It occurs in arteriovenous communication of retina and brain or as an incidental finding.

c.Histologically, it is composed of mature blood vessels that may be hypertrophied.

The malformation seems to be a mature

artery (albeit hypertrophied) that is becoming a mature vein (also often hypertrophied) without passing through a vascular (i.e., capillary) bed.

4.Telangiectasia‡

a.Telangiectasia of the orbit is rare.

b.Telangiectasia is found in meningocutaneous angiomatosis (see pp. 30–31 in Chapter 2), ataxia–telangiectasia (see p. 36 in Chapter 2), and Osler–Rendu–Weber disease (see p. 225 in

Chapter 7).

c.Histologically, it is composed of dilated and tortuous capillaries.

C.Lymphangioma† (Fig. 14.19)

Often lymphangiomas contain both venous and lymphatic components, hence, another term for the lesions is combined venous lymphatic malformations. The lesions may be associated with noncontiguous intracranial vascular anomalies.

1.Frequently, the clinical onset of lymphangioma is in children younger than 10 years of age.

2.It may di usely involve the orbit, conjunctiva, and lids, and tends to be invasive and slow-growing.

a.Clinically at presentation, proptosis occurs in 85% of cases, blepharoptosis in 73%, and restriction of eye movements in 46%.

b.Although retinal folds may be seen, compressive optic neuropathy is rare.

3.The tumor probably regresses somewhat in time, but easily becomes infected.

4.Histologically, it is composed of lymph-filled spaces of di erent sizes, lined by endothelium and separated by thin, delicate walls.

Hemorrhage in the lesion produces a “chocolate cyst.”

III. Mesenchymal tumors

A. Vascular

1.Hemangiomas and lymphangioma (see earlier under discussion of hamartomas)

2.Hemangiopericytoma‡

Fig. 14.18 Cavernous hemangioma. A, Clinical appearance of left exophthalmos. B, Pressure of tumor on optic nerve has caused optic disc edema. C, Magnetic resonance imaging shows optic nerve stretched over tumor in T1-weighted image. D, Tumor “lights up” in T2-weighted image, characteristic of a hemangioma. E, Gross appearance of surgically removed hemangioma. F, Histologic section shows large, blood-filled spaces of tumor lined by endothelium and separated by fibrous septa of different thicknesses. (Case presented by Dr. WC Frayer to the meeting of the Verhoeff Society, 1989.)

a.This rare orbital tumor is most common in the fourth decade.

Rarely, a hemangiopericytoma can involve the epibulbar region anteriorly.

b.It may be malignant in 12% to 57% of cases

(varies according to authors’ series).

It seems that the longer the follow-up, the greater the mortality rate from the tumor.

c.The clinical course cannot always be predicted from the histologic appearance, especially when the cytology “appears” benign.

d.The tumor probably arises from pericytes.

“Angioblastic type” of meningioma, once thought to be of meningeal origin, is now generally accepted to

be a hemangiopericytoma of the central nervous system.

e.Histologically, an increased number of thinwalled vascular channels are separated by tumor cells in a network of extracellular material.

1). Perivascular massing of pericytes is present.

2). Silver-stained material reveals reticulin characteristically segregating cells into groups.

3). Cell morphology is uniform.

The tumor is more likely to be malignant if the following occur: increased mitotic activity (>4 mitotic figures per 400 field), necrotic foci, pleomorphism, S-phase greater than 9, and a proliferative index greater than 11 (the last two determined by cell cycle analysis). Hemangiopericytoma resembles the vascular form of fibrous histiocytoma (FH; see pp. 551 in this chapter).

4). Focal staining for vimentin, CD34, and factor

XIIIa occurs

3.Glomus tumor (glomangioma‡; Fig. 14.20)

a.The glomus cell is probably a specialized smoothmuscle cell.

b.A tumor composed of glomus cells, a very rare tumor, occurs in two forms: a solitary form and a familial form that shows multiple tumors involving face, palate, eyelid, and anterior orbit.

c.Histologically, small vessels lined by a single layer of endothelial cells are surrounded by one or more layers of glomus cells.

1). The cells are round and have small, round nuclei and clear cytoplasm.

2). Immunohistochemically, the cells are positive for muscle-specific actin and vimentin, and are negative for factor VIII and other endothelial markers.

4.Hemangiosarcoma‡ (angiosarcoma, malignant hemangioendothelioma)

a.This is a rare orbital tumor.

Intravascular papillary endothelial hyperplasia, a benign lesion, has been confused with hemangiosar-

coma. Another benign lesion, probably a reactive or immunologic inflammatory process, angiolymphoid hyperplasia with eosinophilia (Kimura’s disease; see p. 572 in this chapter), has also been mistaken for hemangiosarcoma.

b.Histologically, it is composed of intercommunicating channels or irregular vascular spaces lined by atypical endothelial cells confined in a thin reticulin network.

1). The endothelial cells may form a single layer, proliferate in focal areas, or produce papillary projections.

The endothelial cells stain positively for FVIII-RAG and Ulex europaeus agglutinin I.

2). Marked histologic variation is seen in the tumor, and from tumor to tumor.

5.Kaposi’s sarcoma (KS‡; Fig. 14.21)

a.KS, previously a disease of elderly men of Mediterranean or Eastern European Jewish ancestry, young black African men, or chemotherapyimmunosuppressed patients, now is associated with acquired immunodeficiency syndrome (AIDS) in almost all cases.

Approximately 20% of patients who have AIDS also have KS (second only to Pneumocystis carinii infection as a presenting manifestation). In addition to AIDS, an association exists between KS and other cancers such as malignant lymphoma (especially Hodgkin’s disease), leukemia, or a primary carcinoma with a separate histogenesis.

b.KS is a multicentric vascular neoplasm that a ects skin, mucous membranes, internal organs, and lymph nodes.

A

C

New herpesvirus-like DNA sequences (KSHV) have been found in classic, endemic, and AIDS-associated KS. KSHV is also associated with lesions other than KS in non-AIDS-immunosuppressed patients, and may be involved in the pathogenesis of the various forms of proliferative skin lesions in organ transplant recipients. The human herpesvirus 8 (HHV-8) is the infectious agent responsible for KS in patients with and without human immunodeficiency virus infection. The latent nuclear antigen-1 (LNA-1) of HHV-8 is a nuclear antigen expressed in all cells latently infected by the virus.

c.Characteristically, it originates as a bluish-red skin macule, often on the lower extremities, that multiplies, coalesces, and eventually spreads to internal viscera.

d.Approximately 22% of patients with AIDS have involvement of the lids and conjunctiva, often as multifocal tumors.

KS may present in the bulbar conjunctiva as the initial clinical manifestation of AIDS.

e.Histologically, it is composed of many foci of capillary clusters in a stroma of malignant spindle cells.

B

Fig. 14.21 Kaposi’s sarcoma. A, A patient who was subsequently found to have the acquired immunodeficiency syndrome presented with a conjunctival tumor. B, Biopsy shows neoplastic cells that contain spindleshaped nuclei and conspicuous nucleoli that are forming bundles or are lining vascular clefts. C, A mitotic figure is seen. (Case reported by Bedrick JJ et al.: Arch Ophthalmol 99:1607, 1981. © American Medical Association. All rights reserved.)

KSHV is a reliable marker (by polymerase chain reaction) to distinguish KS, particularly at its early stage, from other vascular lesions.

1). Type I consists of a flat lesion with thin,dilated vascular channels lined by flat endothelial cells with lumen-containing erythrocytes.

2). Type II consists of a flat lesion with plump, fusiform endothelial cells, often containing hyperchromic nuclei, and foci of immature spindle cells and occasionally slit vessels.

3). Type III consists of a nodular (>3 mm in height) lesion with large aggregates of densely packed spindle cells containing hyperchromic nuclei, occasional mitotic figures, and abundant slit vessels, often with erythrocytes in between.

Commonly, the tumor is admixed with lymphocytes, hence the term malignant granulation tissue. The endothelial cells lining well-formed tumor blood vessels give a strong reaction with immunohistochemical staining for FVIII-RAG when the per- oxidase–antiperoxidase technique is used. The proliferating spindle cells that form the capillary clusters (“vascular slits”), however, give a negative reaction.

C

B.Fatty

1.Lipoma† (Fig. 14.22)

a.It is easier to determine clinically than histologically whether a tumor is a primary orbital lipoma or herniated orbital fat.

Variants of benign lipoma include angiolipoma, angiomyolipoma, spindle cell lipoma, pleomorphic lipoma, benign lipoblastoma, and hibernoma (multivacuolar brown fat cells).

b.Histologically, a lipoma is composed of groups of mature, univacuolar, white, fat cells separated from other groups by delicate fibrovascular septa.

1). Coarser septa divide the tumor into lobules. 2). A true lipoma usually has a thin, fibrous

capsule.

2.Liposarcoma‡ (Fig. 14.23)

a.This extremely rare orbital tumor may be primary, or secondary to radiation therapy.

b.Histologically, liposarcomas tend to be well differentiated or myxoid.

1). The tumors are composed of univacuolar signet-ring lipoblasts.

2). Scattered, bizarre, hyperchromatic cells without prominent lipidization may also be present.

C.Fibrous–histiocytic–reactive

1.Nodular fasciitis†

a.This is a benign proliferation of connective tissue.

The tumor is also called subcutaneous pseudosarcomatous fibromatosis, pseudosarcomatous fasciitis, and nodular fibrositis.

b.Clinically, it presents as a rapidly growing mass.

c.Histologically, it is composed of nodular proliferations of plump, stellate, or spindle-shaped fibroblasts arranged in parallel bundles or haphazardly (the cells resemble tissue culture fibroblasts).

1). A variable amount of intercellular myxoid ground substance is present.

2). Abundant reticulin fibers and moderate numbers of collagen fibers can be demonstrated.

3). Proliferation of slitlike vascular spaces or well-formed capillaries is characteristic.

2.Juvenile fibromatosis‡ (psammomatoid ossifying fibroma)

a.This is usually seen in children.