Ocular Tumors 9811583838, 9789811583834
The book covers practically all tumors of eye and adnexa. Chapters are contributed by well- established ocular oncologis
521 110 14MB
English Pages 260 [272] Year 2020
Table of contents :
Foreword
Preface
Acknowledgments
Contents
About the Editors and Contributors
About the Editors
Contributors
Abbreviations
1: Overview of Ophthalmic Tumors
1.1 What Constitutes Ophthalmic Oncology?
1.2 Who Are the Personnel Involved in the Management?
1.3 What Are the Commonest Tumors One Comes Across?
1.3.1 Presentation
1.4 What Changes Were Seen in the Investigational Approach?
1.5 What Changes Have Taken Place in the Management Approaches?
1.6 Redefining the Role of Genetics and Molecular Markers
1.6.1 Region Specific Issues
1.6.2 Proactive Approaches
References
2: Retinoblastoma
2.1 Epidemiology of Retinoblastoma
2.2 Clinical Features
2.3 Differential Diagnosis
2.4 Imaging
2.5 Grouping and Staging
2.6 Management
2.6.1 Chemotherapy
2.6.1.1 Intravenous Chemotherapy
2.6.1.2 Intra-arterial Chemotherapy
2.6.1.3 Intravitreal Chemotherapy
2.6.2 Radiation Therapy
2.6.3 Focal Therapy
2.6.4 Enucleation
2.7 Orbital Retinoblastoma
2.8 Metastatic Retinoblastoma
2.9 Prenatal Genetics
2.10 Screening for Retinoblastoma
2.11 Sibling Survey
2.12 Conclusion
References
3: Genetics of Retinoblastoma
3.1 Introduction
3.2 Heritable Versus Nonheritable Retinoblastoma
3.3 Molecular Genetics
3.4 Role of pRB Protein
3.5 Genetic Variations
3.5.1 Low Penetrance RB-
3.5.2 13 q Deletion Syndrome
3.5.3 Mutations Other than RB1
3.5.4 Mosaicism
3.6 Genetic Testing
3.7 Preimplantation and Prenatal Diagnosis
3.8 Conclusion
References
4: Pathology of Retinoblastoma: An Update
4.1 Introduction
4.2 Genetics
4.3 Gross Pathology
4.4 Microscopy
4.5 Molecular Pathology
References
5: Malignant Melanoma of Choroid
5.1 Introduction
5.2 Genetics
5.3 Symptoms
5.4 Clinical Signs
5.5 Classification
5.5.1 Collaborative Ocular Melanoma Study (COMS)
5.6 Investigations
5.7 Differential Diagnosis
5.8 Treatment
5.9 Prognosis
References
6: Genetics of Uveal Melanoma
6.1 Genetic Alterations and Progression of Melanoma
6.1.1 Cell Cycle Dysregulation
6.1.1.1 Guanine Nucleotide-Binding Protein Subunit Alpha-Q and Guanine Nucleotide-Binding Protein Subunit Alpha-11 (GNAQ and GNA11)
6.1.1.2 INK4A-ARF
6.1.2 Inhibition of Apoptosis and Cell Survival
6.1.2.1 Human Double Minute 2 (HDM2)
6.1.2.2 Phosphoinositide-3-Kinase (PI3K)/AKT
6.1.2.3 Insulin-Like Growth Factor 1 Receptor (IGF1R)
6.1.3 Acquisition of Malignant Potential
6.1.3.1 Monosomy 3
6.1.3.2 Loss of 8p
6.1.3.3 Gain of 6p
6.1.3.4 BRCA1 Associated Protein-1 (BAP1)
6.1.3.5 Eukaryotic Translation Initiation Factor 1A, X Linked (EIF1AX)
6.2 Harvesting the Sample
6.3 Test Employed
6.3.1 Karyotyping
6.3.2 Fluorescent In Situ hybridization (FISH)
6.3.3 Whole Genome Single Nucleotide Polymorphism (SNP)
6.3.4 Multiplex Ligation Dependent Probe Amplification (MLPA) and Microsatellite Analysis (MSA)
6.3.5 Gene Expression Profiling
6.4 Familial Choroidal Melanoma
6.4.1 BAP1 Tumor Predisposition Syndrome
6.4.2 Dysplastic Nevus Syndrome (DNS) or Atypical Mole Syndrome
6.5 Genetic Alterations and Prognostication
6.5.1 Correlation Between Genetic Alterations and Clinical and Histological Features
6.6 Role in Treatment
6.6.1 Screening for Metastases
6.6.2 Treatment of Small Choroidal Melanoma
6.7 Development of Novel Therapeutic Modalities
6.7.1 Drugs Targeting Downstream Molecules of GNAQ/GNA11
6.7.2 Drugs Targeting BAP1 Function
6.8 Summary
References
7: Pitfalls in Diagnosis of Choroidal Malignant Melanoma
7.1 Identification of People at Risk
7.1.1 Choroidal Nevus
7.1.2 Oculocutaneous Melanosis
7.1.3 Dysplastic Nevus Syndrome
7.1.4 BAP1 Tumor Predisposition Syndrome
7.2 Differentiation of Choroidal Melanoma and Other Intraocular Tumors
7.2.1 Choroidal Hemangioma
7.2.2 Melanocytoma
7.2.3 Choroidal Nevus
7.2.4 Choroidal Metastases
7.2.5 Retinal Pigment Epithelial Adenoma/Adenocarcinoma
7.2.6 Leiomyoma of the Choroid
7.3 Differentiation of Choroidal Melanoma from Nonneoplastic Lesions
7.3.1 Peripheral Exudative Hemorrhagic Chorioretinopathy (PEHCR)
7.3.2 Subretinal Hemorrhage or Sub-RPE Hemorrhage Associated with Polypoidal Choroidal Vasculopathy (PCV) and Age-Related Macular Degeneration (AMD)
7.3.3 Posterior Nodular Scleritis
7.3.4 Posterior Scleral Cyst
7.4 Diagnosis in Cases with Media Opacity
7.4.1 Painful Blind Eye
7.4.2 Vitreous Hemorrhage or Subretinal Hemorrhage
7.4.3 Mature Cataract
7.4.4 Exudative Retinal Detachment
7.5 Special Considerations
7.5.1 Diffuse Choroidal Melanoma
7.5.2 Previously Treated Tumors
7.6 Summary
References
8: Intraocular Lymphoma
8.1 Introduction
8.2 Classification
8.3 Epidemiology
8.4 Etiology
8.5 Clinical Features
8.6 Differential Diagnosis
8.7 Diagnostic Workup
8.7.1 Diagnostic Ocular Imaging
8.7.2 Neuroimaging
8.7.3 Whole Body CT or PET-CT Imaging for Systemic Evaluation
8.7.4 Diagnostic Tissue Sampling and Analysis
8.8 Treatment
8.9 Prognosis
References
9: Vasoproliferative Retinal Tumor
9.1 History
9.2 Pathology
9.3 Classification
9.3.1 Primary VPRT
9.3.2 Secondary VPRT
9.4 Clinical Features
9.5 Investigations
9.6 Treatment
References
10: Choroidal Metastasis
10.1 Introduction
10.2 Pathogenesis
10.3 Clinical Features
10.3.1 Symptoms
10.3.2 Signs
10.4 Differential Diagnosis
10.5 Investigations
10.6 Treatment Modalities and Decision-Making
10.7 Prognosis
References
11: Leukemia and Eye
11.1 Introduction
11.2 Systemic Leukemia and Classification
11.3 Ocular Manifestations of Leukemia
11.4 Eyelid
11.5 Conjunctiva
11.6 Cornea and Sclera
11.7 Anterior Segment
11.8 Retina
11.9 Optic Disc and Optic Nerve
11.10 Choroid
11.11 Orbit
11.12 Opportunistic Infections
11.13 Diagnosis and Imaging Findings
11.14 Computed Tomography (CT) Orbit
11.15 Magnetic Resonance Imaging (MRI) Orbit
11.16 Peripheral Blood Smear
11.17 Bone Marrow Biopsy
11.18 Orbital Incisional Biopsy
11.19 Treatment
11.20 Conclusion
References
12: Orbital Tumors
12.1 Orbital Dermoid Cyst
12.2 Orbital Teratomatous Cyst
12.3 Orbital Mucocele
12.4 Orbital Capillary Hemangioma
12.5 Orbital Schwannoma
12.6 Orbital Neurofibroma
12.7 Optic Nerve Glioma
12.8 Orbital Meningioma
12.9 Orbital Rhabdomyosarcoma
12.10 Orbital Dermolipoma
12.11 Lacrimal Gland Pleomorphic Adenoma
12.12 Adenoid Cystic Carcinoma of the Lacrimal Gland
12.13 Orbital Lymphoma
12.14 Orbital Metastatic Tumors
12.15 Orbital Secondary Tumors
References
13: Tumors of the Conjunctiva and Ocular Surface
13.1 Introduction
13.2 Anatomical Consideration
13.3 Histology
13.4 Classification of Ocular Surface Tumors
13.5 Congenital Lesions of the Ocular Surface
13.5.1 Choristoma
13.5.1.1 Dermoid
13.5.1.2 Dermolipoma
13.5.1.3 Complex Choristoma
13.6 Benign Tumors of the Epithelium: Non-melanocytic
13.6.1 Squamous Papilloma
13.6.2 Reactive Epithelial Hyperplasia (Pseudoepitheliomatous Hyperplasia, Pseudocarcinomatous Hyperplasia)
13.6.3 Hereditary Benign Intraepithelial Dyskeratosis (HBID)
13.6.4 Conjunctival Epithelial Cysts
13.6.4.1 Keratotic Plaque
13.6.4.2 Actinic Keratosis
13.6.5 Ocular Surface Squamous Neoplasia
13.7 Benign Tumors of the Epithelium: Melanocytic
13.7.1 Conjunctival Melanocytic Nevus
13.7.1.1 Complexion-Associated Melanosis (CAM)
13.7.1.2 Primary Acquired Melanosis (PAM)
13.8 Conjunctival Malignant Melanoma
13.9 Congenital Melanosis Oculi (Congenital Ocular Melanocytosis, Nevus of Ota)
13.10 Stromal Tumors of the Ocular Surface
13.10.1 Lymphoproliferative Tumors
13.11 Vascular Stromal Tumors
13.11.1 Capillary Hemangioma
13.11.2 Cavernous Hemangioma
13.11.3 Varix
13.11.4 Racemose Hemangioma
13.11.5 Lymphangiectasia
13.11.6 Lymphangioma
13.11.7 Hemangiopericytoma
13.11.8 Pyogenic Granuloma
13.11.9 Kaposi’s Sarcoma
13.12 Fibrous Tumors of Conjunctiva
13.12.1 Fibroma
13.12.2 Nodular Fasciitis
13.13 Neural Tumors of Ocular Surface
13.13.1 Neurofibroma
13.13.2 Schwannoma (Neurilemmoma)
13.13.3 Granular Cell Tumor
13.14 Histiocytic Tumors of Ocular Surface
13.14.1 Xanthogranuloma
13.14.2 Xanthoma
13.14.3 Reticulohistiocytoma
13.15 Myxoid Tumors
13.15.1 Myxoma
13.16 Conjunctival Stromal Tumors (COST)
13.17 Myogenic Tumors
13.17.1 Rhabdomyosarcoma
13.18 Lipomatous Tumor
13.18.1 Lipoma and Liposarcoma
13.19 Metastatic and Secondary Tumors
13.19.1 Metastatic Tumors
13.19.2 Leukemic Infiltrates
13.19.3 Secondary Tumors
13.20 Caruncular Tumors and Cysts
References
14: Eyelid Tumors: The Entire Spectrum
14.1 Anatomical Consideration
14.1.1 Gross Anatomy
14.1.1.1 Epidermis
14.1.1.2 Dermis
14.1.1.3 Glands of the Eyelids
14.1.1.4 Vascular System
14.2 Terminologies
14.3 Eyelid Tumors
14.4 Benign Eyelid Tumors
14.4.1 Benign Epidermal Tumors and Cysts
14.4.1.1 Squamous Cell Papilloma
14.4.1.2 Basal Cell Papilloma
14.4.1.3 Inverted Follicular Keratosis
14.4.1.4 Actinic Keratosis
14.4.1.5 Pseudoepitheliomatous (Pseudocarcinomatous) Hyperplasia
14.4.1.6 Epidermoid Cyst
14.4.1.7 Dermoid Cyst
14.4.1.8 Epidermal Inclusion Cyst
14.4.1.9 Sebaceous Cyst
14.4.2 Benign Sebaceous Gland Tumors
14.4.2.1 Sebaceous Gland Adenoma
14.4.2.2 Sebaceous Gland Hyperplasia
14.4.3 Benign Sweat Gland Tumors
14.4.3.1 Benign Eccrine Gland Tumors
Syringoma
Eccrine Hidrocystoma
Eccrine Acrospiroma
Pleomorphic Adenoma
14.4.3.2 Benign Apocrine Gland Tumor
Apocrine Adenoma
Apocrine Hidrocystoma
Syringocystadenoma Papilleferum
Oncocytoma
14.4.4 Benign Hair Follicle Tumors
14.4.4.1 Trichoepithelioma
14.4.4.2 Trichofolliculoma
14.4.4.3 Trichilemmoma
14.4.4.4 Pilomatrixoma
14.5 Benign Melanocytic Tumors
14.5.1 Epithelial Pigmentation
14.5.1.1 Freckel/Ephelis
14.5.1.2 Lentigo Simplex
14.5.1.3 Solar Lentigo
14.5.1.4 Melanocytic Nevus
Congenital Melanocytic Nevus
Acquired Melanocytic Nevus
14.5.1.5 Blue Nevus
14.5.1.6 Nevus of Ota
14.5.2 Benign Vascular Tumors and Malformations
14.5.2.1 Capillary Hemangioma
14.5.2.2 Cavernous Hemangioma
14.5.2.3 Port-Wine Stain
14.5.2.4 Lymphangiomas
14.5.2.5 Pyogenic Granuloma
14.5.3 Benign Histiocytic Tumors
14.5.3.1 Xanthelasma
14.5.3.2 Xanthogranuloma
14.5.4 Benign Neurogenic Tumors
14.5.4.1 Neurofibroma, Plexiform Neurofibroma
14.5.4.2 Schwannoma/Neurilemmomas
14.5.5 Miscellaneous Benign Growths
14.5.5.1 Milia
14.5.5.2 Chalazion
14.5.5.3 Molluscum Contagiosum
14.6 Malignant Eyelid Tumors
14.6.1 Sebaceous Gland Carcinoma
14.6.1.1 Epidemiology
14.6.1.2 Etiology
14.6.1.3 Clinical Features
14.6.1.4 Histopathology
14.6.1.5 Differential Diagnosis
14.6.1.6 Treatment
14.6.1.7 Prognosis
14.6.2 Basal Cell Carcinoma
14.6.2.1 Etiology
14.6.2.2 Clinical Features
14.6.2.3 Histology
14.6.2.4 Differential Diagnosis
14.6.2.5 Treatment
14.6.2.6 Prognosis
14.6.3 Squamous Cell Carcinoma
14.6.3.1 Etiology
14.6.3.2 Clinical Features
14.6.3.3 Histology
14.6.3.4 Differential Diagnoses
14.6.3.5 Treatment
14.6.3.6 Prognosis
14.6.4 Keratoacanthoma
14.6.5 Melanoma of the Eyelid
14.6.5.1 Epidemiology
14.6.5.2 Premalignant Precursor
14.6.5.3 Clinical Features
14.6.5.4 Histology
14.6.5.5 Treatment
14.6.5.6 Prognosis
14.6.6 Merkel Cell Tumor
14.6.7 Kaposi’s Sarcoma
14.6.8 Malignant Sweat Gland Tumors
14.6.8.1 Syringomatous Carcinoma
14.6.8.2 Mucinous Adenocarcinoma
14.6.8.3 Endocrine Mucin Producing Sweat-Gland Carcinoma
14.6.9 Malignant Hair Follicle Tumors
14.6.9.1 Trichilemmal Carcinoma
14.6.10 Fibrosarcoma
14.6.11 Liposarcoma
14.6.12 Rhabdomyosarcoma
14.6.13 Lymphoid and Leukemic Tumors
14.6.14 Metastatic
14.7 Basic Principles in Management of Eyelid Tumors
14.7.1 Surgical Approach
14.7.1.1 Diagnostic Biopsy
Principles of Surgical Excision
Eyelid Reconstruction
14.7.2 Sentinel Lymph Node Biopsy (SLNB)
14.7.3 Radiation Therapy
14.7.4 Chemotherapy
14.7.5 Targeted Therapy for Advanced Malignant Tumors
References
15: Phakomatoses
15.1 Introduction
15.2 Neurofibromstosis Type 1
15.3 Neurofibromatosis Type 2
15.4 Tuberous Sclerosis
15.5 Wyburn-Mason Syndrome
15.6 Von Hippel–Lindau Disease
15.7 Sturge-Weber Syndrome
References
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