Contents
Please note that the contents of this volume have been split into two parts for publication in print: Part A and Part B.
List of abbreviations xiii
Foreword xiv
PART A
ICD-O topographical coding of paediatric tumours 1
ICD-O morphological coding: Introduction 5
Haematolymphoid disorders 6
CNS tumours 10
Peripheral neuroblastic tumours 13
Eye tumours 14
Soft tissue and bone tumours 15
Germ cell tumours 20
Renal and male genital tumours 22
Female genital tumours 23
Breast tumours 24
Digestive system tumours 25
Endocrine tumours 27
Head and neck tumours 28
Thoracic tumours 29
Skin tumours 30
TNM staging of paediatric tumours 31
1 Introduction to paediatric tumours 35
2 Haematolymphoid disorders 39
Introduction 40
Myeloid neoplasms
Myeloproliferative neoplasms
Chronic myeloid leukaemia (CML) 41
Myelodysplastic/myeloproliferative neoplasms
Juvenile myelomonocytic leukaemia 45
Myelodysplastic syndromes
Refractory cytopenia of childhood (childhood
myelodysplastic neoplasm with low blasts) 48
Myelodysplastic syndrome with excess blasts
(childhood myelodysplastic neoplasm with
increased blasts) 51
Acute myeloid leukaemia (AML)
AMLs defined by differentiation 53
AMLs with defining genetic abnormalities 56
Myeloid neoplasms and proliferations associated with
antecedent or predisposing conditions
Myeloid neoplasms associated with germline
predisposition 62
Myeloid proliferations associated with Down syndrome 66
Mast cell neoplasia
Mastocytosis 69
Lymphoid neoplasms
Precursor lymphoid neoplasms
B-lymphoblastic leukaemia/lymphoma 75
T- and NK-lymphoblastic leukaemia/lymphoma 80
Mature B-cell neoplasms
Primary mediastinal large B-cell lymphoma 83
Diffuse large B-cell lymphoma NOS 86
EBV-positive diffuse large B-cell lymphoma 89
Large B-cell lymphoma with IRF4 rearrangement 91
Paediatric-type follicular lymphoma 93
Paediatric nodal marginal zone lymphoma 96
ALK-positive large B-cell lymphoma 99
Lymphomatoid granulomatosis 101
Plasmablastic lymphoma 103
Mediastinal grey zone lymphoma 106
Burkitt lymphoma 109
High-grade B-cell lymphoma with 11q aberration 113
Mature T/NK-cell neoplasms
Peripheral T-cell lymphoma NOS 115
Aggressive NK-cell leukaemia 117
Primary cutaneous T-cell neoplasms
Mycosis fungoides 119
Primary cutaneous CD30-positive T-cell lym-
phoproliferative disorders 123
Subcutaneous panniculitis-like T-cell lymphoma 126
Anaplastic large cell lymphoma
ALK-positive anaplastic large cell lymphoma 129
Hepatosplenic T-cell lymphoma
Hepatosplenic T-cell lymphoma 133
EBV-positive lymphoproliferative diseases of childhood
Systemic EBV-positive T-cell lymphoma of childhood 135
Hydroa vacciniforme lymphoproliferative disorder 138
Hodgkin lymphoma
Classic Hodgkin lymphoma 141
Nodular lymphocyte-predominant Hodgkin
lymphoma 145
Histiocytic and dendritic cell neoplasms
Langerhans cell histiocytosis and related disorders 148
Immunodeficiency-associated lymphoproliferative disorders
Primary immunodeficiency–associated lympho-
proliferative disorders 154
Posttransplant lymphoproliferative disorders 158
HIV-associated lymphoproliferative disorders 163
3 CNS tumours 167
Introduction 169
Gliomas, glioneuronal tumours, and neuronal tumours
Introduction 172
Paediatric-type diffuse low-grade gliomas
Diffuse astrocytoma, MYB- or MYBL1-altered 174
Angiocentric glioma 177
Polymorphous low-grade neuroepithelial tumour
of the young 180
Diffuse low-grade glioma, MAPK pathway–altered 183
Paediatric-type diffuse high-grade gliomas
Diffuse midline glioma, H3 K27–altered 187
Diffuse hemispheric glioma, H3 G34–mutant 193
Diffuse paediatric-type high-grade glioma,
H3-wildtype and IDH-wildtype 196
Infant-type hemispheric glioma 200
Circumscribed astrocytic gliomas
Pilocytic astrocytoma 202
High-grade astrocytoma with piloid features 209
Pleomorphic xanthoastrocytoma 213
Subependymal giant cell astrocytoma 218
Astroblastoma, MN1-altered 222
Glioneuronal and neuronal tumours
Ganglioglioma 225
Desmoplastic infantile ganglioglioma / desmo-
plastic infantile astrocytoma 230
Dysembryoplastic neuroepithelial tumour 234
Diffuse glioneuronal tumour with oligodendro-
glioma-like features and nuclear clusters 238
Diffuse leptomeningeal glioneuronal tumour 241
Multinodular and vacuolating neuronal tumour 245
Ependymal tumours
Introduction 248
Supratentorial ependymoma 249
Supratentorial ependymoma, ZFTA fusion–positive 252
Supratentorial ependymoma, YAP1 fusion–positive 255
Posterior fossa ependymoma 257
Posterior fossa group A (PFA) ependymoma 260
Posterior fossa group B (PFB) ependymoma 263
Spinal ependymoma 265
Spinal ependymoma, MYCN-amplified 268
Myxopapillary ependymoma 271
Choroid plexus tumours
Choroid plexus papilloma 274
Atypical choroid plexus papilloma 277
Choroid plexus carcinoma 279
CNS embryonal tumours
Medulloblastoma: Introduction 282
Medulloblastomas, molecularly defined
Medulloblastoma, WNT-activated 285
Medulloblastoma, SHH-activated and
TP53-wildtype 288
Medulloblastoma, SHH-activated and
TP53-mutant 291
Medulloblastoma, non-WNT/non-SHH 293
Medulloblastomas, histologically defined
Medulloblastoma, histologically defined 295
Other CNS embryonal tumours
Introduction 302
Atypical teratoid/rhabdoid tumour 303
Cribriform neuroepithelial tumour 308
Embryonal tumour with multilayered rosettes 310
CNS neuroblastoma, FOXR2-activated 314
CNS tumour with BCOR internal tandem duplication 317
CNS embryonal tumour NEC/NOS 320
Pineal tumours
Pineal tumours
Introduction 322
Pineoblastoma 323
Melanocytic CNS tumours
Introduction 327
Diffuse meningeal melanocytic neoplasms:
Melanocytosis and melanomatosis 328
Tumours of the sellar region
Introduction 331
Pituitary endocrine tumours
Pituitary adenoma / pituitary neuroendocrine tumour 332
Pituitary blastoma 341
Craniopharyngiomas
Adamantinomatous craniopharyngioma 343
4 Peripheral neuroblastic tumours 349
Introduction 350
Ganglioneuroma 351
Ganglioneuroblastoma, intermixed 353
Neuroblastoma 356
Ganglioneuroblastoma, nodular (and other
composite neuroblastic tumours) 363
5 Eye tumours 365
Introduction 366
Conjunctival neoplasms
Hamartomas
Epibulbar choristoma 367
Epibulbar osseous choristoma 369
Phakomatous choristoma 370
Melanocytic neoplasms
Conjunctival junctional, compound,and subepi-
thelial naevi 372
Inflamed juvenile conjunctival naevus 375
Uveal neoplasms
Diffuse choroidal neurofibroma and ganglioneuroma 378
Lisch nodule (iris hamartoma) 381
Retinal and neuroepithelial tumours
Retinocytoma 383
Retinoblastoma 385
Medulloepithelioma 392
Optic nerve tumours
Pilocytic astrocytoma and other gliomas of the
optic nerve 395
6 Soft tissue and bone tumours 397
Introduction 399
Soft tissue tumours
Adipocytic tumours
Lipomatosis 402
Lipoblastoma/lipoblastomatosis 405
Liposarcoma 408
Fibroblastic and myofibroblastic tumours
Fasciitis/myositis 411
Fibrodysplasia ossificans progressiva 415
Fibroma of tendon sheath 417
Gardner fibroma 418
Fibrous hamartoma of infancy 420
Lipofibromatosis 422
Inclusion body infantile digital fibromatosis 424
Juvenile hyaline fibromatosis
(hyaline fibromatosis syndrome) 426
Fibromatosis colli 428
Calcifying aponeurotic fibroma 430
Sinonasal angiofibroma 432
Plantar/palmar fibromatoses 435
Dermatofibrosarcoma protuberans 437
Desmoid fibromatosis 441
EWSR1::SMAD3-rearranged fibroblastic tumour 443
Infantile fibrosarcoma 445
Paediatric NTRK-rearranged spindle cell neoplasm 448
Low-grade fibromyxoid sarcoma / sclerosing
epithelioid fibrosarcoma 451
Inflammatory myofibroblastic tumour 454
Low-grade myofibroblastic sarcoma 457
So-called fibrohistiocytic tumours
Fibrous histiocytoma 459
Plexiform fibrohistiocytic tumour 462
Tenosynovial giant cell tumour 464
Vascular tumours
Capillary malformations 466
Venous malformations 468
Arteriovenous malformations 471
Intramuscular vascular anomalies 474
Lymphatic anomalies 477
Congenital haemangioma 479
Infantile haemangioma 481
Haemangioma of placenta 483
Lobular capillary haemangioma (pyogenic
granuloma) 485
Epithelioid haemangioma 487
Tufted angioma and kaposiform haemangioen-
dothelioma 489
Papillary intralymphatic angioendothelioma and
retiform haemangioendothelioma 492
Pseudomyogenic haemangioendothelioma 494
Kaposi sarcoma 497
Epithelioid haemangioendothelioma 500
Angiosarcoma 502
Pericytic (perivascular) tumours
Myofibroma and myopericytoma 504
Glomus tumour and glomuvenous malformation 507
Smooth muscle tumours
EBV-associated smooth muscle tumour 509
Skeletal muscle tumours
Rhabdomyoma 511
Rhabdomyosarcomas 513
Ectomesenchymoma 517
Gastrointestinal stromal tumour
Paediatric gastrointestinal stromal tumour 519
Peripheral nerve sheath tumours
Schwannoma 522
Neurofibroma 525
Perineurioma 529
Hybrid nerve sheath tumour 531
Granular cell tumour 533
Solitary circumscribed neuroma 535
Ectopic meningioma and
meningothelial hamartoma 537
Benign triton tumour /
neuromuscular choristoma 539
Malignant peripheral nerve sheath tumour 541
Tumours of uncertain derivation
Intramuscular/juxta-articular myxoma 545
Superficial angiomyxoma 547
Deep angiomyxoma 548
Angiomatoid fibrous histiocytoma 550
Clear cell sarcoma of soft tissue 552
Alveolar soft part sarcoma 554
Extrarenal rhabdoid tumour 556
PEComa 559
Synovial sarcoma 562
Epithelioid sarcoma 565
Myoepithelial tumours of soft tissue 569
Phosphaturic mesenchymal tumour 572
Desmoplastic small round cell tumour 574
Undifferentiated sarcomas 577
Undifferentiated small round cell sarcomas of soft tissue
and bone
Ewing sarcoma 579
Round cell sarcoma with EWSR1::non-ETS fusions 582
CIC-rearranged sarcoma 585
Sarcoma with BCOR genetic alterations 587
Bone tumours
Osteogenic tumours
Subungual exostosis 590
Bizarre parosteal osteochondromatous proliferation 592
Osteoblastoma 594
Osteoid osteoma 596
Chondromesenchymal hamartoma of the chest wall 598
Osteosarcoma 600
Chondrogenic tumours
Chondroblastoma 608
Osteochondroma 611
Chondromyxoid fibroma 613
Enchondroma and enchondromatosis 616
Chondrosarcoma 618
Mesenchymal chondrosarcoma 623
Other bone tumours
Vascular tumours of bone 625
Aneurysmal bone cyst 628
Giant cell tumour of bone 630
Non-ossifying fibroma 632
Notochordal tumours 634
Simple bone cyst 638
Adamantinoma 640
Osteofibrous dysplasia 642
Fibrous dysplasia 644
PART B
7 Germ cell tumours 647
648Introduction
Germ cell tumours
Non-invasive germ cell neoplasia
Intratubular germ cell neoplasia (male gonadal) 649
652Gonadoblastoma
Germinoma-family tumours
Germinoma/dysgerminoma/seminoma 655
Non-germinomatous germ cell tumours
661
663
666
668
671
673
675
679
681
684
686
Introduction
Mature cystic teratoma
Extragonadal teratoma
Monodermal teratomas (female
gonadal) Immature teratoma (female
gonadal) Prepubertal-type testicular
teratoma Postpubertal-type teratoma
Embryonal carcinoma
Yolk sac tumour
Fetus in fetu
Choriocarcinoma (non-gestational)
Malignant mixed germ cell tumours 688
8 Renal and male genital tumours 691
692Introduction
Renal tumours
Nephroblastic and related tumours
Paediatric cystic nephroma 695
697Nephroblastoma
Molecularly defined renal tumours
702
706
708
Renal cell carcinoma with MiT translocations
ALK-rearranged renal cell carcinoma
Eosinophilic solid and cystic renal cell carcinoma
SMARCB1-deficient renal medullary carcinoma 710
Metanephric tumours
712
714
Metanephric adenoma
Metanephric adenofibroma
Metanephric stromal tumour 716
Mesenchymal renal tumours
718
720
722
725
727
Ossifying renal tumour of infancy
Mesoblastic nephroma
Clear cell sarcoma of the kidney
Malignant rhabdoid tumour of the kidney
Anaplastic sarcoma of the kidney Renal
Ewing sarcoma 729
Testicular tumours
731Non–germ cell testicular tumours: Introduction
Juvenile granulosa cell tumour of the testis 732
9 Female genital tumours 735
Non–germ cell tumours of the female genital tract: Introduc-
736tion
Ovarian tumours
Sex cord stromal tumours
737
739
741
743
745
746
Ovarian fibroma
Sclerosing stromal tumour
Juvenile granulosa cell tumour of the ovary
Sex cord tumour with annular tubules
Papillary cystadenoma
Sertoli–Leydig cell tumour
Gynandroblastoma 749
Other ovarian tumours
Small cell carcinoma of the ovary, hypercalcae-
751mic type
Lower female genital tract tumours
Epithelial tumours
753
755
Mesonephric remnants and hyperplasia
Müllerian papilloma
Condyloma acuminatum 757
Peritoneal tumours
Mesothelial tumours
Peritoneal inclusion cysts 759
10 Breast tumours 761
762Introduction
Breast tumours
764
767
Fibroepithelial tumours
Juvenile fibroadenoma
Juvenile papillomatosis 770
11 Digestive system tumours 773
774Introduction
Liver tumours
Epithelial tumours
775
781
Hepatoblastoma
Fibrolamellar variant of hepatocellular carcinoma
Paediatric hepatocellular carcinoma 784
Mesenchymal tumours unique to the liver
790
793
795
797
800
Mesenchymal hamartoma
Calcifying nested stromal-epithelial tumour
Embryonal sarcoma of the liver
Hepatic congenital haemangioma Hepatic
infantile haemangioma
Hepatic angiosarcoma 803
Pancreatic tumours
Epithelial tumours
805
809
Pancreatoblastoma
Pancreatic acinar cell carcinoma
Solid pseudopapillary neoplasm 812
Gastrointestinal tumours
Epithelial tumours
816Gastroblastoma
Appendiceal neuroendocrine tumours 818
12 Endocrine tumours 821
Introduction 822
Thyroid tumours
Thyroid epithelial tumours
Follicular adenoma of the thyroid 823
Papillary thyroid carcinoma 827
Cribriform morular thyroid carcinoma 834
Medullary thyroid carcinoma 837
Spindle epithelial tumour with thymus-like elements 841
Parathyroid tumours
Parathyroid endocrine tumours
Parathyroid adenoma 843
Adrenal tumours
Adrenocortical tumours
846Adrenal cortical tumours
Tumours of the adrenal medulla and extra-adrenal paraganglia
Sympathetic paraganglioma 851
Parasympathetic paraganglioma (head and
neck paraganglioma) 854
Phaeochromocytoma 858
865Composite phaeochromocytoma/paraganglioma
Neuroendocrine neoplasms
Neuroendocrine tumours
Other neuroendocrine tumours 867
13 Head and neck tumours 873
874Introduction
Benign tumours
875
877
879
881
883
888
890
891
893
894
Squamous papilloma and papillomatosis
White sponge naevus
Congenital granular cell epulis
Central giant cell granuloma
Odontogenic tumours
Ossifying fibroma
Sinonasal tract myxoma
Nasal dermoid cyst
Nasopharyngeal dermoid
Nasal chondromesenchymal hamartoma
Pleomorphic adenoma 896
Malignant tumours
899
901
903
905
908
Mucoepidermoid carcinoma
Acinic cell carcinoma
Sialoblastoma
Nasopharyngeal carcinoma
NUT carcinoma
Melanotic neuroectodermal tumour of infancy 910
14 Thoracic tumours 913
Lung tumours
914
916
Fetal lung interstitial tumour
Congenital peribronchial myofibroblastic tumour
Pleuropulmonary blastoma 918
Heart tumours
Cardiac rhabdomyoma 922
15 Skin tumours 925
926Introduction
Hamartomas
927Hamartomas
Epithelial neoplasms
Squamous neoplasms
932
934
Angiokeratoma
Epidermal naevi
Pilomatricoma 938
Melanocytic neoplasms
Naevi
940
943
945
947
Congenital naevi
Junctional, compound, and dermal naevi Blue
naevus
Spitz naevus
Pigmented spindle cell naevus (Reed naevus) 950
Melanoma
Melanoma 952
16 Genetic tumour syndromes 957
958Selected tumour predisposition syndromes: Introduction
Syndromes predisposing primarily to neural tumours
962
966
971
Neurofibromatosis type 1
Neurofibromatosis type 2
Tuberous sclerosis
Naevoid basal cell carcinoma syndrome (Gorlin
syndrome) 975
979Retinoblastoma syndrome
Syndromes predisposing primarily to endocrine tumours
Von Hippel–Lindau syndrome 981
Hereditary phaeochromocytoma–paragangli-
984oma syndromes
Syndromes predisposing primarily to Wilms tumours
987WAGR syndrome
Beckwith–Wiedemann and related overgrowth
syndromes 989
Syndromes predisposing primarily to gastrointestinal tumours
Familial adenomatous polyposis 991
Lynch syndrome 994
Other syndromes
Xeroderma pigmentosum 999
Rothmund–Thomson syndrome 1002
Li–Fraumeni syndrome 1005
DICER1 syndrome 1008
BAP1 tumour predisposition syndrome 1012
Constitutional mismatch repair deficiency syndrome 1014
Rhabdoid tumour predisposition syndrome 1017
Contributors 1021
1034
1036
1037
1055
1177
Declaration of interests
IARC/WHO Committee for ICD-O
Sources
References
Subject index
Previous volumes in the series 1191