Seanna Grob, MD, MAS received a BA in Molecular and Cellular Biology from the University of California, Berkeley and a MD and MAS from the University of California, San Diego. She completed her ophthalmology residency at Massachusetts Eye and Ear/Harvard Medical School. She is currently the Director of the Ocular Trauma Service at Massachusetts Eye and Ear and Brigham and Women’s Hospital. She has been accepted into a 2-year American Society of Ophthalmic Plastic and Reconstructive Surgery-approved fellowship and will start in 2017.
Lora Rabin Dagi Glass
Lora Dagi Glass completed her ophthalmology residency at the Columbia University Medical Center, followed by a fellowship in oculoplastic surgery at the Massachusetts Eye and Ear Infirmary. Her research has focused on orbital processes ranging from thyroid eye disease to optic nerve glioma and orbital melanoma.
Suzanne K. Freitag
Suzanne K Freitag, MD, received a BA from Duke University and MD from Jefferson Medical College in Philadelphia, PA. She completed ophthalmology residency at Wills Eye Hospital followed by a neuroophthalmology fellowship at the Wilmer Eye Institute at Johns Hopkins. She then completed a 2-year American Society of Ophthalmic Plastic and Reconstructive Surgery-approved fellowship in Boston. She is the Director of the Ophthalmic Plastic Surgery Service at Massachusetts Eye and Ear Infirmary and an Assistant Professor of Ophthalmology at Harvard Medical School.
Malignancies of the orbit can be classified into primary, secondary, or metastatic. Primary orbital malignancies arise within the orbit, while secondary orbital malignancies are extensions of locally invasive tumors in adjacent structures, and metastatic tumors travel from remote sites in the body. This chapter will focus on malignancies that arise primarily in the orbit. Secondary and metastatic malignancies will be discussed in later chapters.
The incidence of primary orbital malignancies is low, with lymphoma being the most common in adults and rhabdomyosarcoma in children. Approximately 60 % of orbital tumors are benign, and 40 % are malignant . Malignant lesions are more common in adults, with nearly 60 % of orbital tumors in adults over 60 being malignant . The age-specific incidence of primary malignant orbital tumors is approximately two per million population until the sixth decade of life, increases to four per million population in those older than age 60 years, and further increases to ten per million population in those older than 80 years .
Rhabdomyosarcoma, a mesenchymal tumor, is the most common primary malignant orbital tumor in children. Six percent of childhood orbital tumors were rhabdomyosarcoma in a series by Rootman . Other sarcomas make up a large majority of pediatric primary orbital malignancies. In adults, lymphoma is the most common orbital malignancy, accounting for approximately 24 % of all orbital malignancies in patients >59 years old [2, 4]. The next most common primary orbital malignancies in adults include other lymphoproliferative or hematopoietic malignancies and lacrimal gland malignancies. Although many patients present with similar symptoms, performing a detailed clinical history and examination as well as using other ancillary testing may reveal characteristics suggestive that an orbital lesion is malignant, hence requiring immediate management.
Patients with orbital tumors can present with an array of different symptoms and chief complaints. If there is involvement or compression of the optic nerve, the patient may present with vision loss. Since the orbit is a relatively small, confined anatomical area, any space-occupying lesion within the orbit may result in proptosis or displacement of the globe. The patient then may notice a change in their appearance with fullness of their lids or protrusion or displacement of their eye in a particular direction. The patient may also note bruising or a change in the appearance of the periorbital skin. If there is displacement of the globe or a mass effect on the extraocular muscles, the patient may present with double vision. Pain is a common complaint and may be a sign of a more concerning lesion, as the neoplasm may be infiltrating surrounding structures and nerves. Pain can be described as pain with eye movements, pressure or pain behind the eyes, headaches, or even sinus pain or pressure. The patient’s description of the rapidity of onset and progression is also vital to determining the level of concern that should be raised. In one series of 267 patients older than 60 years, the most common presenting clinical features of orbital malignancy were a palpable or visualized mass (26 %), proptosis (18 %), and pain (15 %) . Of note, 6 % of the patients were asymptomatic . Therefore, even routine ophthalmic examination may reveal findings concerning for orbital neoplasm.
The list of primary orbital neoplasms is quite extensive. The number becomes much smaller when focusing on those that are malignant; however, these tumors are usually more aggressive and at risk of metastasizing. To simplify the process of listing orbital malignancies, it is helpful to think about basic orbital anatomy. Each structure within the orbit has its own list of associated neoplasms. However, not all primary malignant orbital tumors are derived from their respective tissue and may arise from undifferentiated tissues within the orbit. Table 42.1 lists primary orbital malignancies.
Primary orbital malignancies
1. Malignant neurogenic tumors of the orbit
(a) Malignant optic nerve glioma of adulthood (glioblastoma)
(b) Malignant peripheral nerve sheath tumors
2. Malignant mesenchymal tumors of the orbit
(a) Malignant striated muscle tumors
(ii) Rhabdoid tumor
(iii) Endodermal sinus tumor
(b) Malignant smooth muscle tumors
(c) Malignant adipose tumors
(d) Malignant fibrous tissue tumors
(ii) Congenital and infantile fibrosarcoma
(iii) Epithelioid sarcoma
(iv) Malignant solitary fibrous tumor
(e) Malignant histiocytic tumors
(i) Malignant fibrous histiocytoma
3. Malignant primary bone tumors of the orbit
(c) Mesenchymal chondrosarcoma
(d) Ewing’s sarcoma
(e) Giant cell tumor
(f) Hematopoietic and histiocytic lesions affecting the bone (e.g., myeloma)
4. Lymphoproliferative, leukemic, and histiocytic lesions of the orbit
(a) Lymphocytic tumors
(i) Small B-cell lymphoma
(ii) Diffuse large B-cell lymphoma
(iii) Burkitt’s lymphoma
(iv) T-cell lymphoma
(b) Leukemic tumors
(c) Plasma cell tumors
(d) Malignant histiocytosis
5. Malignant lacrimal gland tumors
(a) Adenoid cystic carcinoma
(b) Carcinoma ex pleomorphic adenoma
(c) Mucoepidermoid carcinoma
Acute Management for Primary Orbital Malignancies
Performing a careful history and clinical examination and ordering proper imaging are critical in the formulation of a differential diagnosis, which can aid in the rapid recognition of an orbital neoplasm. When this leads to a high index of suspicion for a malignant orbital process, rapid tissue diagnosis followed by thoughtful treatment decisions is critical. If there is concern for extension outside of the orbit, additional specialists such as head and neck surgeons, neurosurgeons, oncologists, and radiation oncologists should be consulted.
Review of Some Primary Orbital Malignancies: Presentation and Management
This section will review some of the more common primary orbital malignancies in greater detail. Many orbital tumors present with signs and symptoms including proptosis, diplopia, globe displacement, pain, restriction of extraocular movements, and blurred vision. In addition to these nonspecific orbital findings, there are sometimes highly suggestive or pathognomonic findings leading to a specific diagnosis, which will be discussed below.
Malignant Neurogenic Tumors of the Orbit
Malignant Optic Nerve Glioma (Glioblastoma)
Typical presentation and imaging:
Age: middle age, more commonly males.
Symptoms: rapid vision loss, monocular vision blurring, and retrobulbar pain.
Signs: decreased visual acuity, afferent pupillary defect, visual field changes, enlarged blind spot or scotoma, strabismus, optic disk infarction, venous congestion and edema, hemiparesis, and hypothalamic abnormalities.
Imaging: MRI orbits and brain with contrast is the preferred study.
CT scan: enlargement of optic nerve and/or chiasm.
MRI: similar to CT appearance but with more soft tissue detail. Useful to distinguish that the optic nerve itself and not the sheath is the source of the mass. The lesion is isointense or slightly hypointense on T1-weighted scans and variable on T2.
In 1973, Hoyt et al. described a malignant optic nerve glioma of adulthood . It has a fulminant and relentless course that usually presents with monocular vision loss, retrobulbar pain, and edema that rapidly progresses to blindness, hemiparesis, and hypothalamic abnormalities. Pathologically, it is a glioblastoma that invades surrounding tissues. Ocular symptoms develop early as the tumor rapidly extends into the nervous system. Diagnosis is made by biopsy of the tumor, in contrast to pediatric optic nerve gliomas, which can often be diagnosed with imaging alone, grow very slowly, and can be observed until evidence of worsening symptoms or visual decline. Patients with malignant optic nerve glioma have a rapid downhill course that leads to death, and the lesion is usually unaffected by attempted therapeutic modalities .
Malignant Mesenchymal Tumors of the Orbit
Typical Presentation and Imaging
Age: Young child (average age 7–8 years, with 70 % occurring in the first decade of life).
Symptoms: Rapidly progressive proptosis or globe displacement, often minimal inflammation and pain.
Signs: Acute and subacute proptosis, globe displacement (often down and out), eyelid edema, ptosis, and palpable mass.
Imaging: MRI with contrast is the modality of choice in a young child to prevent radiation exposure. It may require sedation depending on the age of the child.
CT: homogenous, well-defined, soft tissue mass without bone destruction, isodense to normal muscle, and moderate to marked contrast enhancement (rarely may cause bony destruction with extension into other sites such as the sinuses, nasopharynx, oral cavity, intracranial space).
MRI: T1 is isointense to muscle, and T2 is hyperintense and appears hyperintense after contrast.
Rhabdomyosarcoma can be a devastating orbital malignancy. It is the most common primary orbital malignancy in children and the most common soft tissue sarcoma of childhood with approximately 10 % occurring primarily in the orbit . The majority of rhabdomyosarcomas arise spontaneously, but other circumstances such as familial occurrences have been reported. Rhabdomyosarcoma can occur in primary sites throughout the body; of the 45 % occurring in the head and neck region, up to 35 % occur in the orbit . Rhabdomyosarcoma is a primitive cancer that likely arises from undifferentiated mesenchymal cells . While striated muscle is a histopathologic hallmark, the cancer most often arises independently of muscles in the orbit .
Most commonly, patients present in the first decade of life with acute or subacute proptosis with related globe displacement (often down and out from a superonasal lesion), ptosis, and swelling of the lids or conjunctiva  (see example Fig. 42.1). Pain is an uncommon presenting symptom. In many instances, parents may relate the exam findings to a recent trauma. Because of its often aggressive growth and potential mortality, any orbital mass in a child should be considered to be rhabdomyosarcoma until proven otherwise. Infants younger than 1 year have a worse prognosis .
(a) Rhabdomyosarcoma; an 8-year-old female presented with swelling of her right lower eyelid for 1 month. (b–d) CT showed an extraconal soft tissue mass in the inferior aspect of the right orbit exerting a mass effect on the inferior portion of the globe. (e) In rhabdomyosarcoma, MRI showed multilobulated enhancing extraconal mass in the right inferior orbit. (e–g) The lesion has T1-intermediate signal and (h) T2 hyperintense signal. The patient underwent urgent biopsy and debulking of the tumor. Pathology was consistent with embryonal rhabdomyosarcoma. She subsequently underwent multi-agent systemic chemotherapy and proton beam therapy and is currently tumor-free
Immediate imaging is indicated, demonstrating a well-defined, homogenous, enhancing orbital mass, which on occasion causes bony destruction with extension into other sites such as sinuses, nasopharynx, oral cavity, or intracranial space . On MRI, the mass is isointense to muscle on T1 and hyperintense on T2 .
If rhabdomyosarcoma remains on the differential diagnosis after appropriate imaging studies are interpreted, there should be no delay in surgical biopsy, with many advocating for surgery on the same day as patient presentation. Current treatment regimens are based on whether or not the tumor has been debulked. Therefore, the tumor should be maximally debulked, but with care taken to preserve critical orbital structures.
Diagnosis is confirmed with histopathologic analysis. There are four main histopathologic subtypes depending on the morphologic pattern, which include embryonal, pleomorphic, alveolar, and botryoid. Embryonal is the most common and has the most favorable prognosis. Alveolar type tends to have a poorer prognosis [1, 7].
A diagnosis of rhabdomyosarcoma should be followed in short order with staging of disease and treatment. Uncontrolled disease can invade into the orbital bone and cranial cavity or rarely metastasize hematogenously to the bone, lung, and other sites. Therefore, the patient should be worked up for metastases at the time of diagnosis, which includes chest imaging, complete blood count, renal and liver function tests, bone marrow aspiration for cytology, and bone scan. The cerebral spinal fluid should be evaluated if there is concern for meningeal spread. An oncologist and radiation oncologist should be involved in the patient care and management.
Current management consists of a combination of systemic chemotherapy and targeted radiation therapy [4, 6, 8]. Exenteration is not thought to improve outcome, though it may be used for palliation in very advanced cases . Survival rates are currently much improved over those reported in the past. Reports from the 1970s stated that only about 30 % of patients were alive at 5 years after diagnosis . Survival rates now are greater than 95 % for orbital rhabdomyosarcoma [4, 6, 8], the embryonal subtype having a higher 5-year survival at 94 % and alveolar a 74 % 5-year survival .
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Typical presentation and imaging:
Age/gender: sixth decade/older individuals or as radiation induced in younger patients, slight female predilection
Symptoms: rapidly progressive proptosis
Signs: proptosis, palpable mass, generally located in extraconal space
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