Melanotic Neuroectodermal Tumor of An

Infancy

Ophthalmic Appearance

William C. Hall, MD; Denis M.

O'Day, MD; Alan

\s=b\ Fullness

developed in the left side of 5-month-old male infant's face in the region of the zygoma. An incisional biopsy specimen showed the mass to be a melanotic neuroectodermal tumor, and radical excision was performed. There has been no recurrence of the tumor one year later. Tumors of this type occur in the face, particularly in the maxilla. and have only rarely been reported around the orbit. a

(Arch Ophthalmol 97:922-925, 1979) the past 60 years, approximately 80 cases have been reported of an unusual melanotic tumor that occurs almost exclusively in infants.'·' This tumor is commonly found in the ante¬ rior maxilla, although it has been described elsewhere in the head and, very rarely, in other parts of the body. The patients are, for the most part, less than 1 year of age, although occa¬ sionally a case has been documented in an adult.' Males and females are equally affected. The tumor is locally invasive, and no cases of metastatic spread have been reported. In one patient, the urinary excretion of vanillylmandelic acid '(VMA) was re¬ ported to be elevated. Because of varying concepts about its exact origin, the tumor has received a variety of names, including Accepted

for publication Sept 13, 1978. From the Departments of Ophthalmology (Drs Hall and O'Day) and Pathology (Dr Glick), Vanderbilt University School of Medicine, Nashville, Tenn. Reprint requests to Department of Ophthalmology, Vanderbilt University School of Medi cine, Nashville, TN 37232 (Dr O'Day).

D.

Glick, MD

melanotic progonoma,4"7 retinal an¬ läge tumor,81" melanotic neuroectodermal tumor, congenital melanocarcinoma,17 melanotic adamantoma,18-1 pigmented epulis of infancy,--"" mela¬ notic epithelial odontoma,2" retino'

blastic teratoma,27"29 and retinochoristoma.'" Although the emphasis in the literature has been on maxillary bone involvement, there have been two reports of orbital invasion as a result of a tumor arising from the zygoma. To our knowledge, the following case is the third instance of zygomatic bone involvement by this unusual tumor.11-12

REPORT OF A CASE

A 5-month-old boy was first noted to have fullness in the left side of his face when a recent photograph was viewed by his parents (Fig 1). This mass enlarged rapidly during the next five days, and skull x-ray films showed a lytic lesion in the area of the child's left zygoma. He was referred to the Department of Ophthalmology, Vanderbilt University Medical School, Nashville, Tenn, for evaluation of this lesion. At the time of admission to the hospital, the child was happy and appeared unaf¬ fected by the mass. The vision was equal in both eyes. The left globe was obviously displaced medially, with a diffuse, domeshaped mass that extended from the left lateral orbital rim posteriorly for 2 cm along the zygomatic arch. There was no skin discoloration; the mass was hard and immobile. The remainder of the ocular examination was unremarkable. Results of a physical examination of the child were normal, disclosing no other apparent masses or skin changes. The pregnancy and delivery had been normal. Orbital x-ray films and tomograms showed a lytic lesion in the lateral orbital

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wall with sclerosis of adjacent bone (Fig 2). The mass had expanded medially into the orbit and laterally into the zygomatic arch, but it did not appear to extend posteriorly beyond the apex of the orbit. A computed axial tomographic scan confirmed the size and location of the mass (Fig 3). The image was moderately enhanced after injection of contrast dye (Fig 4). Urinary excretion of VMA was 11.5 mg/g of creatinine (normal value, 6 ± 6 mg/g of creatinine); homovanillic acid was 8.9 mg/g of creati¬ nine (normal value, 11.0 ± 1 mg/g of creat¬ inine); and catecholamines were reported as 226 ng/g of creatinine (normal value, < 270 ^g/g of creatinine). Bone marrow aspiration and biopsy specimens showed no tumor cells and were thought to be normal for age. Intravenous pyelogram was remarkable only in that it showed delayed emptying on the left side of the renal

pelvis.

Because of the history of recent growth of the mass and the possibility that this was a malignant tumor, an incisional biop¬ sy was performed over the anterior zygo¬ matic arch. The periosteum was intact, and after the sclerotic surface bone was excised, the cheesy-brown nonhemorrhagic tumor was exposed. The biopsy specimen showed the mass to be a melanotic tumor of neural crest origin. Radical excision of the tumor was performed three weeks later, when a large portion of the lateral orbital wall was removed with free margins surrounding the entire mass. The tumor, covered by a thin sclerotic layer of bone, had extended into the temporal fossa and into the orbit, displacing the globe medial¬ ly. Neither the superficial portion of the lateral orbital rim nor the greater wing of the sphenoid showed tumor involvement. The postoperative course has been un¬ eventful with no signs of recurrence for the past year (Fig 5). Despite the extensive loss of lateral orbital wall due to the surgery, the position of the eye and ocular motility have returned to normal.

PATHOLOGIC FINDINGS

On histologie examination, the mass was typically that of a melanotic neuroectodermal tumor, strikingly similar to those of the maxilla, as described by other authors.4·4·11·33·34 There was plentiful connective tissue stroma on all sections. Within this matrix were multiple tubules of vary¬ ing size, the linings of which were polygonal cells; many of these cells contained pigment granules (Fig 6). The pigmentary content of the tumor as a whole was moderate. A second population of smaller cells with deeply staining nuclei and scant cytoplasms occurred in tufts within the tubules and appeared to be attached to the walls of the tubules. By electron microscopy, the pigment cells that lined the tubules exhibited fine base¬ ment membranes between the cells and the surrounding connective tissue (Fig 7). Melanosomes were also dem¬ onstrated in various sections and stages of development (Fig 8).

Fig 1.—Preopeative view of 5-month-old child showing left lateral orbital mass and medial displacement of left eye. Fig 2.—Plain skull x-ray film of patient demonstrates sclerotic margins of tumor (arrows) in left zygomatic frontal area.

COMMENT

Reports pigmented

of

this

rare

tumor have

type of

appeared

in the literature since 1918, when the first case that involved the maxilla was reported by Krompecher.17 Dur¬ ing the years, there has been consider¬ able speculation on its origin and

plane computed ho¬ Fig mographie scan through midorbit showing lesion extending toward but not into 3.—Transverse

Fig 4.—Computed tomographic showing moderate enhancement of tumor with contrast dye. scan

apex.

Fig 5.—Near-normal eyelid configuration with correction of medial displacement of left eye, one year postoperatively.

development. Krompecher thought that this tumor was most likely derived from pigmented odontogenic or cutaneous epithelial cells that had been sequestered in development and

Fig 6.—Low-power view of tumor shows gland-like spaces in fibrous stroma lined by polygonal cells (hematoxylin-eosin, 192). Inset, Higher power of lining cells with melanin granules (arrow) (hematoxylin-eosin, 512).

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Fig 7.—Pigment-containing Fig 8.—Cells lining

luminal cell shows basement membranes between cells and connective tissue

tubules show melanosomes

(arrows)

in various sections and

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(x 16,000).

stages of development ( 45,500).

later transformed into a congenital type of melanocarcinoma. Later investigators2" believed that these tumors were odontogenic in origin because developing teeth had been seen in proximity to the tumor. However, epithelial odontomas occur in a much older age group, and their occurrence in such distant tissues as mediastinum and epididymis makes this an unlikely theory today. In 1946, Bratton and Robinson35 de¬ scribed the occurrence of this tumor in the oral cavity of an infant and concluded from the pathologic exami¬ nation that there appeared to be differentiation of cells into rods and cones. It remained for Halpert and Patzer4" to name it retinal anläge tumor, since they thought the infolded layers of pigmented cuboidal cells resembled the ciliary processes of the eye. Recently, a number of investiga¬ tors2·3 have taken exception to the retinal anläge theory. Their reasoning was that the retina is well organized at the 7-mm embryo size, and it would be impossible for a more developed

pinched off by the less developed tissue of the maxilla. There tissue to be

has also been no evidence of choroidal or scierai tissue in these tumors. Also, neurofibrillary elements have not reg¬ ularly been demonstrated. The eyes of these children have not been abnor¬ mal, and extracranial cases have been

reported.

Recent evidence points more strongly to the cells of the neural crest as the precursors of these pigmented

Stowens,4 who coined the title "melanotic progonoma," envisioned the tumor as composed of a hamartotumors.

matous pigmented epithelial compo¬ nent of neural crest tissue that

induced local choristomatous tissue proliferation. A report by Dooling and colleagues'" discussed the similarities between "melanotic neuroectodermal tumors of infancy" and the fetal pineal gland, and they stressed the concept of pineal anläge, which is derived from the neuroectoderm, as the origin for this tumor. Regardless of the origin, of primary importance to the ophthalmologist is

that this tumor can originate in and about the orbital bones and may displace the globe. It should be consid¬ ered along with dermoids, hemangiomas, rhabdomyosarcoma, neuroblasto¬ ma, neurofibroma, leukemia, and teratoma in the differential diagnosis of periorbital tumors. Even though this tumor is rare, it is important to consider because it is potentially cura¬ ble with total resection. There have been no reports of metastasis, but the tumor can kill by destruction of vital tissues through local extension. There¬ fore, every attempt should be made to remove it in its entirety if histologie identification has been made. There may also be a place for radiation in conjunction with surgical excision if evidence exists that the tumor is not totally excised. It must be remem¬ bered, however, that radiation is not the primary treatment of choice. This investigation was supported in part by Public Health Service grant EY-01621 from the National Eye Institute, National Institutes of Health, and by a grant from the Prevention of Blindness, Inc.

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sie

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tione di

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Melanotic neuroectodermal tumor of infancy. An ophthalmic appearance.

Melanotic Neuroectodermal Tumor of An Infancy Ophthalmic Appearance William C. Hall, MD; Denis M. O'Day, MD; Alan \s=b\ Fullness developed in th...
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