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3/28/2016
1
AAOOP Companion MeetingBone and Orbital Wall Lesions
Tatyana Milman, MD
ACCME/DisclosuresThe USCAP requires that anyone in a position to influence or control the content of CME disclose
any relevant financial relationship WITH COMMERCIAL INTERESTS which they or their
spouse/partner have, or have had, within the past 12 months, which relates to the content of
this educational activity and creates a conflict of interest.
Dr. TATYANA MILMAN declares she has no conflicts of interest to disclose.
The Bony OrbitThe Bony OrbitThe Bony Orbit
7 Bones7 Bones
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The Roof Frontal Bone
The Medial Wall
The Inferior Wall
And
Palatine Bone(not shown here)
The Lateral Wall
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https://embryology.med.unsw.edu.au
Primary lesions of the bony orbit
0.6%-2%
of all orbital tumors
Primary lesions of the bony orbit0.6%-2% of all orbital tumors
Selva D et al. Primary bone tumors of the orbit. Surv Ophthalmol 2004;49:328-42.
Primary osseous and fibro-osseous lesions: ~40%
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Primary osseous and fibro-osseous orbital lesions
Benign orbital fibro-osseous lesions• Fibrous dysplasia• Ossifying fibroma• Osteoma• Osteoid osteoma and osteoblastoma
Interesting cases
Fibrous dysplasia
Definition• Dysplastic skeletal anomaly• Distortion of normal medullary bone and
replacement with immature woven bone
Fibrous dysplasia Clinical presentation
• First 2 decades (most patients <30)• M = F
http://www.waent.org/archives/2009/vol2-2/fibrous-dysplasia/
Monostotic fibrous dysplasia
Fibrous dysplasia Clinical presentation
• First 2 decades (most patients <30)• M = F
Polyostotic fibrous dysplasia in McCune Albright Syndrome
http://tumorlibrary.com/
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Fibrous dysplasia Clinical presentation
• First 2 decades (most patients <30)• M = F
Craniofacial dysplasiahttp://maayafoundation.org/http://radiopaedia.org/images/
Fibrous dysplasia Clinical presentation
www.ijri.orghttp://radiopaedia.org/images/
Orbital wall involvement
http://eyewiki.aao.org/
Fibrous dysplasia Pathophysiology / Genetics
Fibrous dysplasia Pathophysiology / Genetics
GTPase mutations
Codon 201 Exon 8 ~60%
GTPase
CREB pathway
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GNAS and fibrous dysplasia Fibrous dysplasia Imaging
http://radiopaedia.org/images/ http://reference.medscape.com/
Fibrous dysplasia Pathology
Ossifying fibroma - like
Low-grade central osteosarcoma
Morita R et al. Low-grade central osteosarcoma of the orbit. J Craniofac Surg. 2012;23(3):e178-80.
Amplification of 12q13-15(MDM2 and CDK4 genes)
MDM2 and CDK4 protein overexpression
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Positive rate of GNAS mutation
Overall: 23% - 100%Long bones: 80%Flat bones: 43%
Craniofacial bones: ~50%
Fibrous dysplasia Diagnosis
• Clinical – radiographic – pathologic correlation
Fibrous dysplasia Prognosis
• Typically quiescent after puberty• Occasionally persistent growth • Malignant transformation
• Osteosarcoma > chondrosarcoma / fibrosarcoma
Management • Observation• Bone contouring• Curettage / resection• Optic nerve decompression / radical resection• Bisphosphonates• Radiation contraindicated
Ossifying fibroma Definition• Benign bone producing neoplasm,
composed of fibrocellular tissue and mineralized material of varying appearances
• Craniofacial skeleton – 2 variants:
1) Ossifying fibroma of odontogenic origin (cemento-ossifying fibroma, ossifying fibroma NOS)
2) Juvenile ossifying fibroma- Psammomatoid variant- Trabecular variant
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Ossifying fibroma Pathophysiology / Genetics
No GNAS1 mutations
Orbital ossifying fibroma:• Non-random chromosome break points at Xq26 and 2q33 - t(X;2)
Psammomatoid ossifying fibroma• MDM2 gene amplifications WITHOUT protein overexpression
Sawyer JR. Nonrandom Chromosome Breakpoints at Xq26 and 2q33 Characterize Cemento-Ossifying Fibromas of the Orbit. Cancer 1995;1853-9.
Clinical presentation• Average at presentation 16-33 years (range 3 mo-72 yrs)• F > M
Ossifying fibroma
Selva D et al. Primary bone tumors of the orbit. Surv Ophthalmol 2004;49:328-42.
http://www.entusa.com/
Ossifying fibroma Imaging
www.jaypeejournals.com http://www.jaypeejournals.com/
Ossifying fibroma Pathology
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Diagnosis• Clinical – radiographic – pathologic correlation
Ossifying fibroma
Ossifying fibroma
Management and Prognosis
• Progressive growth
• Multiple recurrences following incomplete excision
• Complete excision recommended
• Malignant transformation not reported
Definition• Benign lesion composed of mature bone
with predominantly lamellar structure• Almost exclusively identified in craniofacial skeleton
Osteoma
Pathophysiology / Genetics• Traumatic, infectious and developmental theories• No well-characterized genetic alterations
Association with Gardner syndrome
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OsteomaClinical presentation
• 4th – 5th decades (10 - 82 yrs)• M = F vs. M:F = 2:1• Most are asymptomatic and incidental
http://www.sarawakeyecare.com/
OsteomaImaging
OsteomaPathology
http://www.archivesofpathology.org/ Ivory osteoma
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Trabecular osteoma Osteoblastoma-like osteoma
Osteoma
Management and Prognosis
• Observation if asymptomatic
• Complete surgical resection (curative):• Symptomatic• Sphenoid sinus lesions
Osteoid osteoma and osteoblastoma
Definition• Benign osteoblastic tumors with overlapping
clinical, radiographic and histologic findings
Osteoid osteoma: • <1.5 cm in greatest dimension• Extremely rare in the head and neck region
Osteoblastoma: • >1.5 cm in greatest dimensions
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Pathophysiology / Genetics
• Not well understood
• Potential genetic overlap (clonal chromosomal abnormalities)
• Osteoid osteoma• Distinct structural chromosomal alterations (22q13)
• Osteoblastoma• Three-way translocations involving Chr 1, 2, 14• Rearrangement of 1q42
Osteoid osteoma and osteoblastoma
Clinical presentation• Distinct predilection for males, 10 – 20 years• Nocturnal pain in extraorbital lesions
Osteoid osteoma and osteoblastoma
Osteoid osteoma and osteoblastomaImaging
Nidus
Sclerotic rim
Pathology
Osteoid osteoma and osteoblastoma
Rim of sclerotic reactive lamellar bone
Central nidus
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Epithelioid (aggressive) osteoblastoma Osteoblastoma-like osteosarcoma
MDM2, CDK4, TOP2A, MACC1 amplification
Complex chromosomal alterationsLOH for Chr 3q, 13q, 17p, 18q
TP53 and RB1 mutations
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Management and Prognosis
Osteoid osteoma• Conservative surgical resection curative
Osteoblastoma • Can be locally aggressive (epithelioid osteoblastoma)• Recurrences following incomplete resection
or piecemeal removal• Complete excision recommended
• Risk of malignant transformation into osteosarcoma?? • Debated
Osteoid osteoma and osteoblastoma Selected cases
Osseous Tumor of the Orbital Bone
Osseous Tumor of the Orbital Bone
Nasreen A. Syed, M.D.F.C. Blodi Eye Pathology Laboratory
University of Iowa
Fibro-osseous orbital lesion
Michele M. Bloomer, MD Department of Ophthalmology UCSF
MIDFACIAL MASSSander R. Dubovy, MD
Florida Lions Ocular Pathology LaboratoryBascom Palmer Eye Institute
Sander R. Dubovy, MDFlorida Lions Ocular Pathology Laboratory
Bascom Palmer Eye InstituteUniversity of Miami Miller School of Medicine
Midfacial MassEastern Ophthalmic Pathology Society
Boston, MA September 2005
15 y.o.Haitian girl with 3 year history of growing right mid-facial mass
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Ossifying fibroma
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Treatment Goals• En-block resection of tumor
• Reconstruction:• Floor of orbit• Right maxilla• Function• Cosmesis
Osseous Tumor of the Orbital Bone
Nasreen A. Syed, M.D.F.C. Blodi Eye Pathology Laboratory
University of Iowa
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8 year old boy, previously healthy
Progressive right proptosis x 6 weeks
2.7 x 1.8 x 1.6 cm mass
2.7 x 1.8 x 1.6 cm mass
Anterior orbitotomy with piece-meal removal of the lesion
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Osseous Tumor of the Orbital BonePathology
Diagnosis?
Diagnosis rendered in consultation with bone pathologist:
“Benign osseous neoplasm most consistent with osteoid osteoma”
Recurrent proptosis 1 month post-operatively
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Osseous Tumor of the Orbital BonePathology
Osseous Tumor of the Orbital BonePathology
Diagnosis
Diagnosis rendered in consultation with outside bone pathologist:
“Osteoblastic variant of osteosarcoma”
Initial clinical presentation, radiology and pathology re-review
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Fibro-osseous orbital lesion
Michele M. Bloomer, MDDepartment of OphthalmologyUniversity of California, San Francisco
Verhoeff Zimmerman Society MeetingApril 29 – May 2, 2010Hyatt Regency, Sarasota
65 year old, otherwise healthy Asian man with right eye swelling and diplopia x 6 weeks
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Lamellar bone
Woven bone
Disease Course
Immediate post-operative image revealed near gross total resection
No alteration in the residual mass >1 year after resection
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Paget’s Disease
Most patients >55 years
Skull frequently affected
Presents with diplopia and globe displacement
Polyostotic and monostotic forms
Radiographically similar to fibrous dysplasia
Can be self-limited
Rare in Asians
Paget’s Disease
Disordered bony remodeling – Early: osteoblastic and osteoclastic rimming
– Late: burnt out phase
Classic histologic feature “jigsaw puzzle”
Occasional transformation into osteosarcoma
Primary osseous and fibro-osseous orbital lesions
• Benign tumors• Fibrous dysplasia• Ossifying fibroma• Osteoma• Osteoblastoma
• Challenges in pathologic diagnosis• Fragmented nature of the specimens• Significant clinical, histologic, and radiographic
overlap
• Need for careful clinical-radiographic-pathologic correlation
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