Ординатура / Офтальмология / Английские материалы / Surgical Atlas of Orbital Diseases_Mallajosyula_2009

Case 9

A 6-year-old female presented with an increasing swelling below the left eye for 1 month, On examination, there was a firm mass in inferonasal orbit with non axial proptosis and superolateral displacement of the eye. CT scan showed a, wellcircumscribed, smooth soft tissue extraconal mass displacing adjacent medial rectus muscle and globe. The tumor was completely excised. Squash and imprint smears were highly cellular with irregular cells with marked pleomorphism of nuclei and cytoplasm. The cells with pink tongue like projections, spindle cells are helpful in suggesting Rhabdomyoblastic differentiation (Figures 4.9A to D). The cells contained moderate to abundant amount of cytoplasm staining deep blue and containing occasional small glycogen vacuoles. Few cells show

ill-defined relatively dense cytoplasmic inclusion. Tumor cells are found singly, but loose clusters also seen. Based on degree of myogenic differentiation Akhtar et al.14 divided Rhabdomyoblasts into 3 categories—Early Rhabdomyoblasts are round undifferentiated cells with high nuclear: Cytoplasmic ratio. Intermediate Rhabdomyoblasts have relatively abundant pale staining cytoplasm and one or more irregular nuclei with occasional nucleoli. Late Rhabdomyoblasts contain abundant cytoplasm staining grayish blue and opaque. These cells vary from round to markedly elongated. Some cells show localized inclusion like grayish blue area within cytoplasm. The differential diagnosis include: Retinoblastoma, Burkitt's lymphoma, metastatic Neuroblastoma, PNET/Ewing's sarcoma and myeloid leukemia can all present in orbit.

Case 10

A 22-year-old female presented with pain, swelling and decreased vision in right eye for 4 months. Examination showed proptosis of right eye with neurotrophic keratopathy and total ophthalmoplegia. (Figure 4.10A) There was a firm, nodular, slightly tender, immobile mass in superolateral orbit whose posterior extent could not be palpated. MRI scans showed a soft tissue mass in superolateral orbit extending towards the orbital apex and another soft tissue mass in cavernous sinus region on the same side (Figure 4.10B). Differential diagnosis included nonspecific orbital inflammation with Tolosa-Hunt syndrome and Adenoid cystic carcinoma with intracranial extension. Incision biopsy was done from the lacrimal gland. Squash and imprint preparation showed the characteristic features of basaloid cells

Role of Cytology in Orbital Lesions 93

in sheets, finger like processes, lacy pattern and the classical 3-dimensional cell balls (Figures 4.10C and D) with minimal nuclear pleomorphism. Permanent sections showed cribriform pattern typical of adenoid cystic carcinoma. A final diagnosis of adenoid cystic carcinoma of the lacrimal gland was made with perineural spread and intracranial extension into the cavernous sinus giving rise to orbital apex syndrome.

Case 11

A 67-year-old female noticed a swelling in the upper lid of the left eye 7 months ago, which enlarged to involve the lower lid 3 months later and appearance of multiple neck masses. On presentation she had complete ptosis, there was a firm, immobile, nontender nodular mass in the anterior orbit palpable through both lids. The mass was not fixed to

overlying skin. The lids were immobile and the conjunctival surface could not be inspected. The mass extended beyond the lower orbital rim, onto the cheek. There was little blood on the lid margin and eyelashes were intact (Figure 4.11A). She also had an enlarged preauricular lymph node on the same side and bilateral neck glands in both anterior and posterior triangles. There were no other systemic abnormalities. CT scan showed a soft tissue mass involving the lids and anterior orbit (Figure 4.11B). FNAC was done from the orbital mass and lymph nodes which showed large pleomorphic epithelial cells, seen in tissue fragments, small clumps as well as singly. The cells show abundant vacuolated cytoplasm and vesicular nucleus (Figure 4.11C). In one of the smears, an Oil Red O staining was done which showed prominent bright orange red globules within the cytoplasm of tumor cells (Figure 4.11D),

thus confirming the diagnosis of sebaceous gland carcinoma, with orbital invasion and regional lymph node metastasis.

Case 12

A 45-year old male presented with a left upper lid droop and diplopia for 1 month. There was a firm, non-tender mass in lacrimal gland region, inferomedial displacement of the globe and limitation of elevation and abduction (Figure 4.12A). Fundus examination showed choroidal folds and globe indentation. CT scan showed a soft tissue mass in lacrimal gland region with erosion of orbital roof and intracranial extension. Orbital part of the tumor was removed through a lateral orbitotomy. The Squash and imprint smears showed clumps of large polygonal cells with abundant cytoplasm, cytoplasmic pink inclusions, a large vesicular nucleus with

prominent inclusion like nucleolus.(Figure 4.12B). Histology confirmed a metastatic carcinoma with a trabecular pattern, intracytoplasmic ropy secretions, osseous metaplasia and occasional cell with bile plugs (Figure 4.12C). Subsequently, the abdominal ultrasound scan showed a well-defined mass in the right lobe of liver. Metastatic deposits from breast, lung, thyroid, hepatocellular carcinoma may be seen in the orbit and show similar appearance as seen in the primary location. This is one of the important indication of fine needle aspiration cytology of orbital lesions which influences the surgical management of the case.

In summary, it is important for the ophthalmologists to apply cytology to ocular lesions

Role of Cytology in Orbital Lesions 95

which can result in early diagnosis with less invasive techniques, sometimes obviating the need for a surgery.

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REFERENCES

1.Orbit FNAC Burnier Jr. MN, Correia CP, McCartney ACE. Tumors of eye and ocular adnexae. In Fletcher CDM (Ed.): Diagnostic Histopathology of Tumors, (2nd ed) Churchill Livingstone, Edinberg. 2000;2:1757.

2.Zajdela A, de Maublanc MA, Schlienger P, Haye C. Cytologic diagnosis of orbital and periorbital palpable tumors using fine needle sampling without aspiration. Diagn Cytopathol 1986;2:17-20.

3.Vemuganti GK, Naik MN, Honavar SG, Sekhar GC. Rapid intraoperative diagnosis of tumors of the eye and orbit by squash and imprint cytology. Ophthalmology. 2004;111:1009-15.

4.Wolska-Szmidt E, Jakubowska A, Krzystolik K, Chosia M. Fine needle aspiration biopsy and molecular analysis in

differential diagnosis of lymphoproliferative diseases of the orbit and eye adnexa. Pol J Pathol. 2004;55:51-7.

5.Schyberg E. Fine needle biopsy of orbital tumors. Acta Ophthalmol 1975;125:11-2.

6.Font RL, Laucirica R, Ramzy I. Cytologic evaluation of tumors of the orbit and ocular adenexa: an analysis of 84 cases studied by the "squash technique". Diagn Cytopathol 1994;10:135-42.

7.Wolska-Szmidt E, Masiuk M, Krzystolik K, Chosia M. Flow cytometry in the diagnosis of lymphoproliferative lesions of the orbit and eye adnexa in fine needle aspiration biopsy. Pol J Pathol. 2003;54:253-9.

8.Coupland SE, Heimann H, Bechrakis NE. Primary intraocular lymphoma: a review of the clinical, histopathological and molecular biological features. Graefes Arch Clin Exp Ophthalmol. 2004;242:901-13.

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9.Koss LG. Diagnostic cytology and its histopatholoigc bases, (4th ed) Philadephia: JB Lippincott,1992;1-11.

10.Tijl JW, Koornneef L. Fine needle aspiration biopsy in orbital tumours.Br J Ophthalmol. 1991;75:491-2.

11.Liu D. Complications of fine needle aspiration of the orbit. Ophthalmology 1985;92:1768-71.

12.Ackermann LV, Ramirez GA. Indications for and limitations of frozen section diagnosis: A review of 1269 consecutive frozen section diagnosis. Br J Surg 1959;46:336-50.

13.Fuchs U. Smear and imprint technique in malignant lesions of the eye. Acta Ophthalmol ( Copenh) 1988;66:445-9.

14.Akhtar M, Ali MA, Bakry M, Huq M, Sackey K. Fine Needle aspiration Biopsy diagnosis of Rhabdomyosarcoma: Cytologic, histologic and ultra-structural correlations. Diagn Cytopathol 1992;8: 465-74.

INTRODUCTION

It is a common practice to include tumor-like conditions such as inflammatory lesions, cysts and lymphoid hyperplasias which mimic true neoplasms in their clinical manifestations under the general term ‘orbital tumors’. Approximately, 70% of all orbital tumors originate from the orbital tissues while 30% invade the orbit from adjacent structures or metastasize from distant primary foci. The relative incidence of the pathological lesions causing proptosis reflects the bias of the reporting discipline, namely, surgical, ophthalmological or radiological.

CLASSIFICATION

The classification essentially follows the tradition of considering the lesions as congenital/developmental, inflammatory and neoplastic. An outline of the classification is shown in Table 1.

Table 1: Classification of orbital lesions

1.Developmental

a.Sphenoid wing dysplasia

b.Neurofibromatosis

i.Optic glioma

ii.Optic meningioma

iii.Optic schwannoma

c.Elephantiasis neuromatosa

d.Plexiform neurofibroma

e.Fibrous dysplasia

f.Dermoid/epidermoid

g.Hamartoma

h.Meningioencephalocoele.

2.Inflammatory

a.Orbital cellulites

b.Idiopathic Orbital inflammation

c.Abscess

d.Parasitic-cysticercus', hydatid

e.Granuloma: sarcoid, wegener's, tuberculosis, fungal.

3.Traumatic

a.Penetrating injury

b.Foreign body

c.Hematoma

4.Neoplastic

Lesions may be of benign or malignant type.

Benign lesions

a.Conal and intraconal

i. Hemangioma – Cavernous (adult)

Capillary (child)

ii.Lymphangioma

iii.Hemangiopericytoma

iv.Neurofibroma

v.Meningioma

Malignant lesions

a.Conal and intraconal

i.Lymphoma

ii.Metastasis

iii.Rhabdomyosarcoma

iv.Neuroblastoma

v.Ewing's sarcoma

b.Optic nerve/sheath

i.Optic glioma

ii.Hemangiopericytoma

iii.Leukemia

5.Vascular

a.AV malformation

b.Carotid–cavernous fistula

c.Venous varix

d.Superior ophthalmic vein thrombosis

6.Endocrine–Grave's ophthalmopathy

7.Miscellaneous–Mucoceles

98 Surgical Atlas of Orbital Diseases

DIAGNOSIS OF ORBITAL TUMORS

Space occupying lesions, involving the orbit, produce symptoms and signs by compression, infiltration and/or infarction of orbital structures. In the final analysis, the clinical presentation will result from displacement and /or dysfunction of the globe, optic nerve, oculomotor nerve and blood vessels.

Proptosis: It is a common feature of all orbital tumors, though its degree may vary. Those within the muscular cone, (e.g. optic glioma, hemangioma and meningioma) usually produce axial proptosis, but those outside the muscle cone, (e.g.dermoid, lacrimal gland tumor, neuroma) tend to push the eye opposite to that of the lesion, to cause eccentric proptosis.

Optic neuropathy: Optic nerve involvement may result in: (a) Progressive visual loss associated with edema of disc. In many patients, however, visual loss may be minimal and of delayed onset. In such cases, testing for color vision may reveal subtle defects even when acuity is nearly normal, (b) Unilateral transient visual loss which may occur in certain positions of gaze and clears when the direction is changed, and

(c) A specific triad may develop in chronic compression of the optic nerve, namely loss of vision, swelling of disc which resolves into optic atrophy and appearance of optociliary shunt veins, (e.g. in spheno-orbital meningiomas).

Oculomotor paresis: The tumors located in orbital apex may involve oculomotor nerves in early stage even before causing proptosis. Some tumors may involve one or two muscles, till late in the disease. Diplopia produced by orbital masses may be neurogenic or myogenic and rarely it may be a combination of both. The mechanical restoration of ocular mobility can be confirmed by performing certain tests. Forced duction or traction test and intraocular pressure increase on looking in the direction of gaze limitation are the tests of choice for this purpose.

Pain: Most of the lesions are painless. Generally, pain is more frequent with malignant tumors. Lesions that involve cavernous sinuses and paranasal sinuses are usually painful.

Pupillary abnormalities: These abnormalities can occur depending upon the involvement of the parasympathetic or sympathetic nerves, but this is

often marked by involvement of oculomotor nerve palsy.

DEVELOPMENTAL LESIONS

Sphenoid Wing Dysplasia

Pulsating exophthalmos results due to defective development of sphenoid wing and roof of the orbit. About one-half of the cases are associated with neurofibromatosis. The lesion is evident in the early years of life, starting with ptosis and thickening of the upper eyelid when it is associated with neurofibromatosis, followed by protrusion of the eye ball. The vision is spared till late. There is usually a bulge in the temporal fossa. X-rays of the skull reveal the underlying bony deficits such as elevation of sphenoid ridge, enlargment of the orbit, absence of temporal line of the sphenoid wing, giving the appearance of an " empty orbit".

Neurofibromatosis

Neurofibromatosis involves the orbit either alone or in association with sphenoid dysphasia and produces a variety of orbital lesions in bony and soft tissue segments.

The peripheral nerve sheath tumors are histologically characterized by the presence of pallisading spindle cells with micro or macrocystic changes. The collagen content may vary. In plexiform type, neurites in bundles may be seen within the stroma.

Case report: A 15-year-old boy presented with proptosis and diminished vision in the left eye. Intraorbital soft tissue lesion was excised. He had in addition bilateral acoustic neurinomas and intradural neurofibroma in the lumbar region. The histological study revealed wavy spindle cells embedded in lose, fibrillary matrix. At places whirling bundles of neuritis are noticed (Figure 5.1).

Meningioencephalocoeles

Sinonasal encephaloceles involve the medial orbital wall and encroach into the orbit causing hypertelorism. The tissues include either meninges alone or brain parenchyma.

Case report: A 12-year-female has reported with proptosis, predominantly affecting the upper medial

Figure 5.1: Spindle cells showing wavy pattern in a case of

Neurofibroma. H and E × 400

aspect of left eye. Radiological examination including CT scan and MRI revealed a cranial defect in the upper orbital wall with small cerebral parenchyma protrusion into sac covered by meninges. At operation, CSF leakage was there and the sac contents along with contents are excised (Figure 5.2).

Dermoid and Epidermoids

These tumors result from embryonic ectodermal sequestration.

These are rare, found inside the orbit, and most of them are located in the periorbital region. Dermoids and epidermoids have the same histological features as seen elsewhere in the body.

Pathology of the Orbital Diseases 99

They are invariably benign and can be excised with ease.

Case report: A 6-year-male child admitted with bulging at the root of nose along with fullness in the upper medial compartment of right eye. Radiological investigations showed a mass involving the anterior base of the frontal bone with orbital extension of the lesion (Figure 5.3).

Hamartoma

Hamartoma is a type of congenital lesion composed of tissues normal to the location. One type of tissue may be predominantly seen such as vascular tissue.

Fibrous Dysplasia

Fibrous dysplasia is a non-neoplastic disease of the bone that affects children and young adults. Craniofacial fibrous dysplasia is a benign condition forming about 3% of all bone tumors. Dysplasia of frontal, sphenoid, ethmoid, zygomatic and maxillary bones may involve the orbit causing visual symptoms. The symptoms may range from progressive visual loss to proptosis or orbital distortion. The lesion is usually painless. On plain X- rays the lesion appears as ground glass, milky and sclerotic and in most cases some areas of radiolucency may be observed. Histological changes are consistent with an arrest in the development of immature woven bone into more mature lamellar bone

Figure 5.2: Histological section showing Neuroglial elements in the wall of the Meningioencephalocoele. H and E × 400

Figure 5.3: Section showing cyst lined by epidermis with dermal appendages from a case of dermoid cyst H and E × 400

100 Surgical Atlas of Orbital Diseases

Figure 5.4: Woven bone without osteoblast rimming in a case of fibrous dysplasia H and E × 400

embedded in cellular fibrous stroma. No osteoblastic rimming is seen around osseous islands. The woven bone may appear as' Chinese figures' often described to indicate their focal irregular pattern. The stroma tends to be fibrous in older individuals (Figure 5.4).

INFLAMMATORY LESIONS

Orbital Cellulitis

Orbital cellulites can remain as a diffuse inflammation or progress to loculation to form an abscess. There is usually a profound disturbance of oculomotor functions, pain and constitutional symptoms. Occasionally, the abscess may become chronic and the lesion may manifest like any begin space occupying lesion. Pathology reveals diffuse suppurative inflammation composed of neutrophils.

Idiopathic Orbital Inflammation

Idiopathic orbital inflammation is the most common cause of an intraorbital mass.

The condition is usually diagnosed clinically with classic symptoms of painful proptosis and restriction of extraocular muscle often unilateral. It is a challenging mimicker of an intraorbital neoplasm and is often a diagnosis by exclusion of other surgically remediable entities. The exact etiology is not known. Autoimmune response to antigen has been implicated. Perhaps the condition is multifactorial. IOI is often a diagnosis of exclusion of specific

etiologies. Every attempt has to be made to find the cause prior to labeling the condition as idiopathic orbital inflammation.

Lymphoid lesions of the orbit continue to pose problems to the ophthalmologists and pathologists as well. Despite increase in understanding and improved methodology the diagnosis is often difficult and intrigues the treating surgeon.

The inflammatory lymphoid lesions which are also called orbital idiopathic inflammation add further confusion to the understanding of the disease process.

Arnold and Becker (1972) and Hochheim (1900) first attempted to classify the lymphoid lesions of the orbit into four categories namely benign lymphoma, follicular lymphoma, lymphosarcoma and lymphatic leukemia. In these groups, the first two possibly belong to the lesions of inflammatory origin. Blodi and Gass(1968) carefully analysed the non-neoplastic lymphoid lesions and divided them into follicular, diffuse lymphocytic and benign lymphocytic hyper plastic varieties. Morgan and Harry (1978) studied 98 cases of lymphoid lesions and considered large number of cases that remained confined to the orbit are of inflammatory nature. These lesions have been termed by them as lymphocytic tumors of indeterminate nature.

These classifications in the present era of molecular markers, are unscientific and redundant.

Clinically, the inflammatory benign lymphoid lesions present with exophthalmos with conjunctival edema, pain/inflammatory signs and occasionally with palpable mass. There is no specific age or sex predilection but appears to affect young adults predominantly. Right eye appears to be involved more frequently than the left and small percentage is found to occur bilaterally. The duration of a symptomatology varies from less than a month to over several years. These tend to heal or improve over a period of time with steroids and/or antibiotics. Small but significant percentage of lesions may focally recur, but do not necessarily indicate malignancy in all the cases. However, careful clinical follow-up is advised and a thorough systemic examination. It is imperative to rule out any disseminating malignant lymphoid lesions. Morgan and Harry (1978) observed in over 25% of cases are associated lymphoid malignancy elsewhere in the

body. This finding necessitates cautious thinking of any lymphoid lesion in general.

However, Knowle et al. (1979) using molecular techniques, made useful and important observation that benign reactive lymphoid hyperplasias are immunologically polyclonal whereas malignant lymphomas are monoclonal in nature.

The lymphoid lesions apparently looking benign may present primarily in the orbit with its systemic involvement being observed at a later date. The pathobiology cannot be clearly defined in the early stages without application of molecular markers which are rather defined. Hence the wisdom lies in careful clinical and histological interpretation (Figure 5.5).

Orbital Infections Aspergillosis

Aspergillosis is a fungal disease caused by aspergillus fumigatus, the most common causative species. Aspergillosis involving the orbit and cranial content is rare. Paranasal sinus aspergillus infections are classified as non-invasive and invasive types.

The invasive or fulminant type of aspergillosis occurs primarily in immunologically compromised individuals. The clinical manifestations include a rapidly progressive gangrenous necrosis of the mucoperiosteum, with destruction of nasal bones of the paranasal sinuses and orbital wall. There may be intracranial invasion. The orbital extension

Pathology of the Orbital Diseases 101

is reflected by soft tissue densities extending from the sinuses especially the ethmoids into the orbital cavity. Some degree of bone destruction is identified in combination with the fungal infiltrate.

The histology in acute form shows necrotising vasculitis associated with soft tissue invasion by fungal filaments. In chronic form, there is granulomatous reaction and fibrosis (Figure 5.6) Intra and extracellular aspergillus is demonstrable by fungus stains such as PAS and silver methanamine (Figure 5.7).

Case report: A 60-year diabetic reported with painless proptosis of right eye of several weeks duration. There was restriction of ocular movements in all directions. Orbital exploration revealed a tough soft tissue lesion which resisted complete dissection and excision. Histology showed many granulomas containg foreign body giant cells containing fungal filaments characteristic of aspergillous species.

Tuberculosis

Orbital tuberculosis is rare. In endemic areas, tuberculous infection should be considered as an important entity in the aetiology of orbital inflammation. Orbitomorphologically the lesion shows caseating coalescing granulomas. There may be variable degree of fibrosis. Similar histoplasmosis may be encountered in brucellosis, histoplasmosis, sarcoidosis. Hence thorough clinical examination

Figure 5.5: Lymphoid aggregates with prominent germinal centers from a case of pseudo-lymphoma H and E × 400

Figure 5.6: Histological section showing foreign body type of giant cells in a granualomatous lesion. From case of Aspergilloma, orbit H and E × 600