xv
Contents
1 General Survey ....................................................................................................... 1
1.1 General Survey ............................................................................................... 1
1.2 Incidence ......................................................................................................... 2
1.3 Tumors Occurring in Patients with Congenital Malformations
and Syndromes ................................................................................................ 3
References ................................................................................................................ 3
2 Germ Cell Tumors ................................................................................................. 5
2.1 Introduction ..................................................................................................... 5
2.2 Cytogenetics ................................................................................................... 7
2.3 Teratoma ......................................................................................................... 7
2.3.1 Clinical Findings ................................................................................. 13
2.3.2 Pathology ............................................................................................. 13
2.4 Fetus-in-Fetu ................................................................................................... 19
2.4.1 Prognosis ............................................................................................. 21
2.5 Yolk Sac Tumor .............................................................................................. 22
2.6 Gonadoblastoma ............................................................................................. 24
2.7 Embryonal Carcinoma .................................................................................... 26
2.8 Polyembryoma ................................................................................................ 27
2.9 Dysgerminoma and Choriocarcinoma ............................................................ 27
References ................................................................................................................ 28
3 Non-Germ-Cell Gonadal Tumors ......................................................................... 31
3.1 Introduction ..................................................................................................... 31
3.2 Leukemic Infiltration of the Infant Testis ....................................................... 32
3.3 Follicular Cysts of the Ovary .......................................................................... 33
3.4 Juvenile Granulosa Cell Tumor ...................................................................... 33
3.5 Sertoli-Leydig Cell Tumors ............................................................................ 34
References ................................................................................................................ 35
4 Soft Tissue Tumors ................................................................................................. 37
4.1 Introduction ..................................................................................................... 37
4.2 Vascular Conditions ........................................................................................ 40
4.2.1 Hemangioma ....................................................................................... 40
4.2.2 Capillary Hemangioma ....................................................................... 40
4.2.3 Cavernous Hemangioma ..................................................................... 41
4.2.4 Infantile Kaposiform Hemangioendothelioma .................................... 42
4.2.5 Tufted Angioma .................................................................................. 43
4.2.6 Malignant Vascular Tumors ................................................................ 43
4.2.7 Lymphangioma .................................................................................... 44
4.2.8 Vascular Malformations ...................................................................... 45
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4.3 Fibrous Connective Tissue (Myofibroblastic) Tumors ................................... 46
4.3.1 Fibromatosis ........................................................................................ 47
4.3.2 Gardner Fibroma ................................................................................. 48
4.3.3 Digital Fibromatosis (Recurring Digital Fibroma) ............................. 49
4.3.4 Torticollis ............................................................................................ 49
4.3.5 Myofibromatosis ................................................................................. 49
4.3.6 Granular Cell Tumor ........................................................................... 50
4.3.7 Fibrous Hamartoma of Infancy ........................................................... 52
4.3.8 Giant-Cell Fibroblastoma .................................................................... 53
4.3.9 Infantile (Congenital) Fibrosarcoma ................................................... 53
4.3.10 Nodular (Proliferative) Fasciitis .......................................................... 60
4.3.11 Cranial Fasciitis ................................................................................... 62
4.3.12 Inflammatory Myofibroblastic Tumor ................................................. 62
4.4 Fibrohistiocytic Tumors .................................................................................. 63
4.4.1 Fibrous Histiocytoma .......................................................................... 65
4.4.2 Angiomatoid Fibrous Histiocytoma .................................................... 65
4.4.3 Juvenile Xanthogranuloma .................................................................. 65
4.5 Skeletal Muscle Tumors ................................................................................. 72
4.5.1 Rhabdomyoma .................................................................................... 72
4.5.2 Rhabdomyosarcoma ............................................................................ 72
4.6 Rhabdoid Tumor ............................................................................................. 73
4.7 Adipose Tissue Tumors .................................................................................. 74
4.7.1 Lipoblastoma ....................................................................................... 74
4.8 Peripheral Nervous System Tumors ............................................................... 76
4.8.1 Neurofibroma ...................................................................................... 76
4.9 Primitive Neuroectodermal Tumor (PNET) ................................................... 78
4.9.1 Melanotic Neuroectodermal Tumor of Infancy ................................... 80
4.10 Miscellaneous Soft Tissue Tumors ................................................................. 80
4.10.1 Triton Tumor ....................................................................................... 80
4.10.2 Polyphenotypic Small Cell Tumor ...................................................... 82
References ................................................................................................................ 83
5 Tumors and Tumor-Like Conditions of the Skin ................................................ 87
5.1 Introduction ..................................................................................................... 87
5.2 Vascular Conditions ........................................................................................ 90
5.2.1 Hemangioma ....................................................................................... 90
5.2.2 Macular Stains ..................................................................................... 92
5.2.3 Syndromes Associated with Vascular Conditions ............................... 92
5.2.4 Hemangioma Variants ......................................................................... 93
5.2.5 Lymphangioma .................................................................................... 94
5.3 Epidermal Birthmarks ..................................................................................... 94
5.3.1 Epidermal Nevus ................................................................................. 94
5.3.2 Becker’s Nevus (Becker’s Melanosis) ................................................. 95
5.3.3 Sebaceous Nevus ................................................................................. 95
5.4 Cutaneous Hamartomas .................................................................................. 96
5.4.1 Smooth Muscle Hamartoma ................................................................ 96
5.4.2 Nevus Lipomatosus ............................................................................. 96
5.5 Melanocytic Nevi ............................................................................................ 96
5.5.1 Pigmented Nevus................................................................................. 96
5.5.2 Giant Congenital Melanocytic Nevi .................................................... 97
5.5.3 Malignant Melanoma .......................................................................... 99
5.5.4 Neurocutaneous Melanosis ................................................................. 100
Contents xvii
5.6 Neurofibromatosis ........................................................................................... 101
5.7 Tuberous Sclerosis .......................................................................................... 101
5.7.1 Infantile Digital Fibromatosis ............................................................. 102
5.7.2 Fibrous Hamartoma of Infancy ........................................................... 102
5.7.3 Papilloma ............................................................................................. 102
5.8 Tumors and Tumor-Like Infiltrations of the Skin ........................................... 102
5.8.1 Leukemia ............................................................................................. 102
5.8.2 Neuroblastoma .................................................................................... 102
5.8.3 Langerhans Cell Histiocytosis ............................................................. 104
5.8.4 Juvenile Xanthogranuloma .................................................................. 104
5.8.5 Rhabdomyosarcoma ............................................................................ 106
5.8.6 Rhabdoid Tumor ................................................................................. 107
5.8.7 Urticaria Pigmentosa (Mast Cell Disease) .......................................... 108
References ................................................................................................................ 108
6 Neuroblastoma ....................................................................................................... 111
6.1 Introduction ..................................................................................................... 111
6.2 Incidence ......................................................................................................... 111
6.3 Clinical Findings ............................................................................................. 111
6.4 Diagnostic Tests .............................................................................................. 121
6.5 Genetic Factors ............................................................................................... 121
6.6 Pathology ........................................................................................................ 122
6.7 Spontaneous Regression ................................................................................. 127
6.8 Neuroblastoma In Situ .................................................................................... 127
6.9 Ganglioneuroma ............................................................................................. 128
6.10 Prognosis ......................................................................................................... 128
References ................................................................................................................ 129
7 Leukemia ................................................................................................................ 131
7.1 Introduction ..................................................................................................... 131
7.2 Incidence ......................................................................................................... 131
7.3 Hematopoiesis ................................................................................................. 131
7.4 Clinical Features ............................................................................................. 132
7.5 Leukemia Occurring in Infants with Chromosomal Anomalies,
Syndromes, and Malformations ...................................................................... 133
7.6 Differential Diagnosis ..................................................................................... 135
7.7 Diagnosis of Leukemia ................................................................................... 139
7.8 Pathology ........................................................................................................ 142
7.9 Prognosis ......................................................................................................... 146
References ................................................................................................................ 146
8 Histiocytoses ........................................................................................................... 149
8.1 Introduction ..................................................................................................... 149
8.2 Ontogeny of the Monophagocytic System ...................................................... 150
8.3 Classification of Histiocytoses ........................................................................ 151
8.4 Dendritic Cell Disorders ................................................................................. 151
8.4.1 Langerhans Cell Histiocytosis ............................................................. 151
8.4.2 Juvenile Xanthogranuloma .................................................................. 155
8.5 Macrophage-Related Disorders ...................................................................... 155
8.5.1 Hemophagocytic Syndromes .............................................................. 155
8.5.2 Sinus Histiocytosis with Massive Lymphadenopathy ......................... 158
8.6 Malignant-Related Disorders .......................................................................... 159
8.6.1 Malignant Histiocytoses ...................................................................... 159
8.6.2 Acute Monocytic Leukemia ................................................................ 159
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8.7 Prognosis ......................................................................................................... 160
References ................................................................................................................ 160
9 Brain Tumors .......................................................................................................... 163
9.1 Introduction ..................................................................................................... 163
9.1.1 Incidence ............................................................................................. 163
9.1.2 Association of Brain Tumors with Heritable Disorders
and Other Conditions .......................................................................... 164
9.1.3 Clinical Findings ................................................................................. 165
9.1.4 Pathology ............................................................................................. 165
9.1.5 Cytogenetics ........................................................................................ 166
9.2 Teratoma ......................................................................................................... 166
9.3 Astrocytoma .................................................................................................... 168
9.4 Primitive Neuroectodermal Tumors ................................................................ 172
9.5 Medulloblastoma ............................................................................................ 177
9.6 Cerebral PNET ................................................................................................ 177
9.7 Gangliocytoma ................................................................................................ 178
9.8 Ganglioglioma ................................................................................................ 178
9.9 Infantile Desmoplastic Ganglioglioma ........................................................... 178
9.10 Ependymoma .................................................................................................. 180
9.11 Choroid Plexus Papilloma .............................................................................. 182
9.12 Choroid Plexus Carcinoma ............................................................................. 185
9.13 Oligodendroglioma ......................................................................................... 186
9.14 Craniopharyngioma ........................................................................................ 187
9.15 Atypical Teratoid/Rhabdoid Tumor ................................................................ 188
9.16 Medulloepithelioma ........................................................................................ 188
9.17 Meningioma .................................................................................................... 189
9.18 Vascular Malformations of the Brain .............................................................. 189
9.19 Prognosis for Infants with Brain Tumors ........................................................ 192
9.20 Miscellaneous Craniofacial Anomalies .......................................................... 193
References ................................................................................................................ 193
10 Tumors of the Eye .................................................................................................. 197
10.1 Retinoblastoma ............................................................................................... 197
10.1.1 Cytogenetics ........................................................................................ 197
10.1.2 Clinical Findings ................................................................................. 197
10.1.3 Differential Diagnosis ......................................................................... 198
10.1.4 Spontaneous Regression ...................................................................... 198
10.1.5 Pathology ............................................................................................. 199
10.1.6 Prognosis ............................................................................................. 203
10.2 Trilateral Retinoblastoma ............................................................................... 203
10.3 Medulloepithelioma ........................................................................................ 204
10.4 Astrocytic Tumors of the Retina ..................................................................... 204
10.5 Neurofibromatosis ........................................................................................... 205
10.6 Optic Glioma .................................................................................................. 206
10.7 Orbital Tumors ................................................................................................ 206
References ................................................................................................................ 207
11 Renal Tumors ......................................................................................................... 209
11.1 Introduction ..................................................................................................... 209
11.2 Wilms’ Tumor ................................................................................................. 216
11.2.1 Pathology ............................................................................................. 216
11.3 Nephrogenic Rests and Nephroblastomatosis ................................................ 221
11.4 Congenital Mesoblastic Nephroma ................................................................. 222
11.4.1 Pathology ............................................................................................. 222
Contents xix
11.5 Rhabdoid Tumor of the Kidney ...................................................................... 228
11.5.1 Pathology ............................................................................................. 228
11.6 Clear Cell Sarcoma of the Kidney .................................................................. 229
11.6.1 Pathology ............................................................................................. 229
11.7 Cystic Conditions of the Kidney ..................................................................... 230
11.8 Ossifying Renal Tumor of Infancy ................................................................. 233
References ................................................................................................................ 234
12 Liver Tumors .......................................................................................................... 237
12.1 Introduction ..................................................................................................... 237
12.2 Hemangioma ................................................................................................... 238
12.3 Mesenchymal Hamartoma .............................................................................. 241
12.4 Hepatoblastoma .............................................................................................. 244
12.5 Primary Sarcomas of the Liver ....................................................................... 250
12.6 Germ Cell Tumors .......................................................................................... 252
12.7 Liver Cell Adenoma and Focal Nodular Hyperplasia ..................................... 252
12.8 Miscellaneous Tumors and Tumorlike Conditions ......................................... 253
References ................................................................................................................ 256
13 Adrenocortical Tumors .......................................................................................... 259
13.1 Introduction ..................................................................................................... 259
13.2 Incidence ......................................................................................................... 259
13.3 Clinical Findings ............................................................................................. 260
13.4 Adrenal Cortical Adenoma ............................................................................. 261
13.5 Adrenocortical Carcinoma .............................................................................. 265
13.6 Adrenal Cortical Hyperplasia ......................................................................... 266
13.6.1 Congenital Adrenal Cortical Hyperplasia Associated
with Adrenogenital Syndrome ............................................................ 267
13.6.2 Clinical Findings ................................................................................. 267
13.6.3 Pathology ............................................................................................. 268
13.6.4 Adrenocortical Hyperplasia Associated
with Cushing’s Syndrome ................................................................... 269
13.6.5 Clinical Findings ................................................................................. 269
13.6.6 Pathological Findings .......................................................................... 269
13.7 Adrenal Cortical Cytomegaly ......................................................................... 269
13.8 Adrenal Cyst ................................................................................................... 270
References ................................................................................................................ 270
14 Pancreatic Tumors ................................................................................................. 273
14.1 Introduction ..................................................................................................... 273
14.2 Endocrine Tumors and Tumorlike Conditions of the Pancreas ...................... 273
14.2.1 Hypertrophy and Hyperplasia of the Islets of Langerhans .................. 273
14.2.2 Nesidioblastosis, Nesidioblastoma ...................................................... 273
14.2.3 Persistent Hyperinsulinemic Hypoglycemia of Infancy...................... 275
14.2.4 Islet Cell Adenoma .............................................................................. 276
14.3 Exocrine Tumors and Tumorlike Conditions of the Pancreas ........................ 277
14.3.1 Adenoma and Cystadenoma ................................................................ 277
14.3.2 Adenocarcinoma ................................................................................. 278
14.3.3 Pancreatoblastoma ............................................................................... 278
14.4 Miscellaneous Tumors and Tumorlike Conditions ......................................... 280
References ................................................................................................................ 280
15 Cardiac Tumors ...................................................................................................... 283
15.1 Introduction ..................................................................................................... 283
15.2 Cardiac Rhabdomyoma .................................................................................. 285
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15.3 Pericardial and Cardiac Teratoma ................................................................. 287
15.4 Cardiac Fibroma ........................................................................................... 289
15.5 Cardiac Myxoma .......................................................................................... 289
15.6 Vascular Tumors ........................................................................................... 289
15.7 Oncocytic (“Histiocytoid”) Cardiomyopathy ............................................... 290
15.8 Miscellaneous Conditions ............................................................................. 290
References ................................................................................................................ 291
16 Salivary Gland Tumors.......................................................................................... 293
16.1 Introduction ................................................................................................... 293
16.2 Sialoblastoma ................................................................................................ 295
16.3 Congenital Pleomorphic Adenoma (Salivary Gland Anlage Tumor) ........... 296
16.4 Miscellaneous Salivary Gland Tumors and Tumorlike Conditions .............. 296
References ................................................................................................................ 300
17 Lung Tumors and Tumor-like Conditions ........................................................... 301
17.1 Introduction ................................................................................................... 301
17.2 Inflammatory Pseudotumor .......................................................................... 306
17.3 Fibromatoses (Myofibromatoses) ................................................................. 307
17.4 Vascular Conditions ...................................................................................... 307
17.5 Congenital Pulmonary Cystic Diseases ........................................................ 307
17.5.1 Congenital Cystic Adenomatoid Malformation ................................ 307
17.6 Laryngotracheal Papilloma ........................................................................... 308
17.7 Congenital Pulmonary Myofibroblastic Tumor ............................................ 309
17.8 Pleuropulmonary Blastoma .......................................................................... 310
17.9 Skeletal Muscle Tumors ............................................................................... 310
17.10 Peripheral Neuroectodermal Tumor of Thoracopulmonary Origin .............. 311
References ................................................................................................................ 312
18 Tumors and Tumor-Like Conditions of Bones .................................................... 315
18.1 Introduction ................................................................................................... 315
18.2 Chest Wall Hamartoma ................................................................................. 317
18.3 Nasal Chondromesenchymal Hamartoma .................................................... 319
18.4 Fibrous Dysplasia of Bone ............................................................................ 321
18.5 Enchondromatosis (Ollier’s Disease) ........................................................... 321
18.6 Congenital Generalized Fibromatosis (Infantile Myofibromatosis) ............. 323
18.7 Congenital Fibrosarcoma .............................................................................. 323
18.8 Ewing’s Sarcoma .......................................................................................... 323
18.9 Miscellaneous Conditions ............................................................................. 324
References ................................................................................................................ 326
Index ..................................................................................................................................... 327