Table Of ContentHandbook of Tumor Syndromes
Handbook of Tumor Syndromes
Edited by
Dongyou Liu
CRC Press
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Contents
Preface .....................................................................................................................................................................................................xi
Editor ....................................................................................................................................................................................................xiii
Contributors ............................................................................................................................................................................................xv
1 Introductory Remarks ...................................................................................................................................................................1
Dongyou Liu
Section I Tumor Syndromes Affecting the Brain, Head, and Lungs
2 Aicardi Syndrome and Klinefelter Syndrome ............................................................................................................................23
Dongyou Liu
3 BAP1 Tumor Predisposition Syndrome ......................................................................................................................................33
Dongyou Liu
4 Congenital Central Hypoventilation Syndrome ........................................................................................................................41
Dongyou Liu
5 Familial Neuroblastoma ..............................................................................................................................................................47
Dongyou Liu
6 Pleuropulmonary Blastoma ........................................................................................................................................................53
Raúl Barrera-Rodríguez and Carlos Pérez-Malagón
7 Retinoblastoma .............................................................................................................................................................................65
Claire Hartnett, Mandeep S. Sagoo, and M. Ashwin Reddy
8 Rhabdoid Tumor Predisposition Syndrome ..............................................................................................................................77
Valerie A. Fitzhugh
9 Rubinstein−Taybi Syndrome ........................................................................................................................................................85
Dongyou Liu
10 Schinzel−Giedion Syndrome .......................................................................................................................................................93
Dongyou Liu
11 Schwannomatosis ..........................................................................................................................................................................99
Tayfun Hakan
12 Von Hippel−Lindau Syndrome ..................................................................................................................................................105
Dongyou Liu
Section II Tumor Syndromes Affecting the Digestive System
13 Alagille Syndrome ......................................................................................................................................................................115
Dongyou Liu
14 Constitutional Mismatch Repair Deficiency Syndrome .........................................................................................................123
Dongyou Liu
v
vi Contents
15 Cronkhite−Canada Syndrome ..................................................................................................................................................131
Dongyou Liu
16 Familial Adenomatous Polyposis ..............................................................................................................................................137
Mariann Unhjem Wiik and Bente A. Talseth-Palmer
17 Familial Gastrointestinal Stromal Tumor Syndrome .............................................................................................................151
Dongyou Liu
18 Hereditary Diffuse Gastric Cancer ..........................................................................................................................................159
Dongyou Liu
19 Juvenile Polyposis Syndrome .....................................................................................................................................................167
Rafael Parra-Medina, Elizabeth E. Montgomery, Paula Quintero-Ronderos, and Edgar Garavito
20 Lynch Syndrome .........................................................................................................................................................................177
Andreas V. Hadjinicolaou and Mashiko Setshedi
21 MUTYH-Associated Polyposis ..................................................................................................................................................189
Dongyou Liu
22 Peutz−Jeghers Syndrome ............................................................................................................................................................197
Fábio Guilherme Campos
23 Serrated Polyposis Syndrome ....................................................................................................................................................205
Dongyou Liu
24 Tylosis with Esophageal Cancer ................................................................................................................................................211
Dongyou Liu
Section III Tumor Syndromes Affecting the Urogenitory System
25 Bardet−Biedl Syndrome.............................................................................................................................................................219
Dongyou Liu
26 Birt–Hogg–Dubé Syndrome ......................................................................................................................................................229
Marianne Geilswijk, Mette Sommerlund, Mia Gebauer Madsen,
Anne-Bine Skytte, and Elisabeth Bendstrup
27 Bohring−Opitz Syndrome .........................................................................................................................................................239
Dongyou Liu
28 Familial Testicular Germ Cell Tumor ......................................................................................................................................245
Dongyou Liu
29 Familial Wilms Tumor and Related Syndromes ......................................................................................................................253
Dongyou Liu
30 Hereditary Breast and Ovarian Cancer ..................................................................................................................................259
Dongyou Liu
31 Hereditary Leiomyomatosis and Renal Cell Cancer ..............................................................................................................269
Dongyou Liu
32 Hereditary Papillary Renal Cell Cancer ..................................................................................................................................277
Dongyou Liu
Contents vii
33 Hereditary Prostate Cancer ......................................................................................................................................................283
Veda N. Giri, Jennifer Beebe-Dimmer, and Kathleen A. Cooney
34 Microphthalmia-Associated Transcription Family Translocation Renal Cell Cancer ........................................................293
Dongyou Liu
35 Mulibrey Nanism ........................................................................................................................................................................301
Dongyou Liu
Section IV Tumor Syndromes Affecting the Skin, Soft Tissue, and Bone
36 Brooke–Spiegler Syndrome .......................................................................................................................................................309
Dongyou Liu
37 Currarino Syndrome ..................................................................................................................................................................317
Dongyou Liu
38 Cutaneous Malignant Melanoma ..............................................................................................................................................323
Dongyou Liu
39 Familial Atypical Multiple Mole Melanoma Syndrome .........................................................................................................331
Samantha Guhan and Hensin Tsao
40 Familial Chordoma ....................................................................................................................................................................347
Alexandra Suttman, Sydney T. Grob, and Jean M. Mulcahy Levy
41 Hereditary Multiple Osteochondromas ...................................................................................................................................353
Dongyou Liu
42 Keratitis–Ichthyosis–Deafness Syndrome ...............................................................................................................................359
Dongyou Liu
43 Li−Fraumeni Syndrome .............................................................................................................................................................365
Dongyou Liu
44 McCune−Albright Syndrome ....................................................................................................................................................371
N. Anitha
45 Milroy Disease .............................................................................................................................................................................379
Dongyou Liu
46 Mosaic Variegated Aneuploidy Syndrome ...............................................................................................................................385
Dongyou Liu
47 Roberts Syndrome ......................................................................................................................................................................389
Dongyou Liu
48 Rothmund−Thomson Syndrome................................................................................................................................................395
Vikram K. Mahajan and Dhaarna Wadhwa
49 Werner Syndrome .......................................................................................................................................................................405
Dongyou Liu
50 Xeroderma Pigmentosum ..........................................................................................................................................................411
Dongyou Liu
viii Contents
Section V Tumor Syndromes Affecting the Endocrine System
51 Carney Complex .........................................................................................................................................................................421
Dongyou Liu
52 Congenital Adrenal Hyperplasia ..............................................................................................................................................427
Dongyou Liu
53 Familial Hyperparathyroidism .................................................................................................................................................435
Luigia Cinque, Alfredo Scillitani, and Vito Guarnieri
54 Familial Isolated Pituitary Adenoma .......................................................................................................................................449
Dongyou Liu
55 Familial Non-Medullary Thyroid Carcinoma .........................................................................................................................455
Adonye Banigo and Iain Nixon
56 Familial Pancreatic Cancer .......................................................................................................................................................461
Dongyou Liu
57 Hereditary Pancreatitis .............................................................................................................................................................469
Dongyou Liu
58 Hereditary Pheochromocytoma and Paraganglioma Syndrome ...........................................................................................475
Dongyou Liu
59 Mahvash Disease .........................................................................................................................................................................483
Anneliese Velez Perez and Jae Ro
60 Multiple Endocrine Neoplasia ...................................................................................................................................................489
Dongyou Liu
61 Pendred Syndrome .....................................................................................................................................................................495
Dongyou Liu
Section VI Tumor Syndromes Affecting the Hematopoietic and Lymphoreticular Systems
62 Ataxia Telangiectasia .................................................................................................................................................................503
Dongyou Liu
63 Autoimmune Lymphoproliferative Syndrome .........................................................................................................................509
Dongyou Liu
64 Bloom Syndrome .........................................................................................................................................................................517
Dongyou Liu
65 Chediak−Higashi Syndrome ......................................................................................................................................................523
Dongyou Liu
66 Congenital Amegakaryocytic Thrombocytopenia ...................................................................................................................529
Dongyou Liu
67 Diamond–Blackfan Anemia ......................................................................................................................................................535
Dongyou Liu
68 Down Syndrome ..........................................................................................................................................................................543
Dongyou Liu
Contents ix
69 Dyskeratosis Congenita ..............................................................................................................................................................549
Somanath Padhi and Susama Patra
70 Familial Acute Myeloid Leukemia ............................................................................................................................................561
Rina Kansal
71 Familial Monosomy 7 Syndrome ...............................................................................................................................................577
Dongyou Liu
72 Familial Multiple Myeloma .......................................................................................................................................................583
Dongyou Liu
73 Fanconi Anemia ..........................................................................................................................................................................589
Dongyou Liu
74 GATA2 Deficiency .......................................................................................................................................................................597
Dongyou Liu
75 LPD Associated with Epstein–Barr Virus Infection ...............................................................................................................603
Dongyou Liu
76 Nijmegen Breakage Syndrome ..................................................................................................................................................611
Dongyou Liu
77 Severe Congenital Neutropenia .................................................................................................................................................617
Dongyou Liu
78 Shwachman−Diamond Syndrome .............................................................................................................................................625
Dongyou Liu
79 Sjögren Syndrome.......................................................................................................................................................................631
Dongyou Liu
80 SRP72-Associated Bone Marrow Failure Syndrome ...............................................................................................................639
Dongyou Liu
81 Thrombocytopenia-Absent Radius ...........................................................................................................................................643
Dongyou Liu
82 Waldenström Macroglobulinemia ............................................................................................................................................649
Jonas Paludo and Morie A. Gertz
83 Wiskott–Aldrich Syndrome ......................................................................................................................................................659
Dongyou Liu
Section VII Overgrowth Syndromes, PTENopathies, and RASopathies
84 Bannayan–Riley–Ruvalcaba Syndrome ..................................................................................................................................667
Gabriela Maria Abreu Gontijo and Clóvis Antônio Lopes Pinto
85 Basal Cell Nevus Syndrome .......................................................................................................................................................675
Priyanka Chhadva and Pete Setabutr
86 Beckwith–Wiedemann Syndrome .............................................................................................................................................683
Jirat Chenbhanich, Sirisak Chanprasert, and Wisit Cheungpasitporn
87 CBL Syndrome ............................................................................................................................................................................699
Dongyou Liu
