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Constitutional Oncogenetics de Noureddine Boukhatem

Constitutional Oncogenetics

Autor Noureddine Boukhatem
en Limba Engleză Hardback – 6 apr 2021

Bazându-ne pe cele mai recente protocoale de screening și date din medicina genomică, Constitutional Oncogenetics reprezintă o resursă clinică esențială pentru înțelegerea predispoziției ereditare la neoplazii. Suntem de părere că lucrarea coordonată de N Boukhatem reușește să sintetizeze riguros managementul familiilor cu risc oncologic, transformând o disciplină relativ nouă într-un instrument de lucru predictiv. Prima parte a volumului oferă descrieri precise ale celor mai frecvente tablouri clinice întâlnite în practica oncologică globală, precum sindromul de predispoziție pentru cancerul de sân și ovar sau sindromul Lynch. În a doua parte, autorul explorează patologii infracentezimale mai rar documentate, precum sindroamele Bloom și Fanconi, oferind claritate în diagnosticarea acestor afecțiuni complexe. Analizând literatura de specialitate, considerăm acest titlu o alternativă tehnică la Encyclopedia of Hereditary Cancer pentru rezidenți și oncologi, având avantajul unei structuri binare care separă clar patologia frecventă de cea rară, facilitând o consultare rapidă în cabinet. Spre deosebire de Rare Hereditary Cancers, care se concentrează exclusiv pe diagnosticul diferențial al cazurilor neobișnuite, Constitutional Oncogenetics păstrează un echilibru necesar între practica de zi cu zi și cercetarea genetică avansată. Apreciem în mod deosebit rigoarea cu care sunt descrise mecanismele constituționale, oferind medicului specialist fundamentul teoretic necesar pentru a ghida testarea genetică și consilierea membrilor familiei aflați la risc.

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Specificații

ISBN-13: 9781789450163
ISBN-10: 1789450160
Pagini: 288
Dimensiuni: 161 x 240 x 20 mm
Greutate: 0.59 kg
Editura: Wiley
Locul publicării:Hoboken, United States

De ce să citești această carte

Recomandăm această carte specialiștilor care doresc să integreze medicina de precizie în practica oncologică. Cititorul dobândește o înțelegere profundă a sindroamelor ereditare, de la cele comune la cele rare (Fanconi, Bloom), esențială pentru stabilirea unor scheme de monitorizare personalizate. Este un instrument indispensabil pentru tranziția de la medicina reactivă la cea preventivă, oferind rigoare științifică într-un format accesibil.

Cuprins

Foreword xvii Introduction xix Part 1. Major Syndromes 1 Chapter 1. Hereditary Breast and Ovarian Cancer Syndrome Including Isolated Ovarian Cancers 3 1.1. Introduction 3 1.2. Prevalence 4 1.2.1. Genetic risk assessment criteria 5 1.3. Indications for genetic testing 8 1.4. Tumors 8 1.4.1. Breast 8 1.4.2. Ovaries 10 1.5. Genes 12 1.5.1. BRCA1 12 1.5.2. BRCA2 12 1.5.3. CHEK2 12 1.5.4. PALB2 13 1.5.5. NBN 13 1.5.6. BARD1 13 1.5.7. BRIP1 13 1.5.8. RAD51C 14 1.5.9. RAD51D 14 1.6. Genotype-phenotype correlations 14 1.7. Penetrance 15 1.8. Mode of transmission 17 1.9. Risks to family members: special consideration 17 1.10. Monitoring 18 1.10.1. Women 18 1.10.2. Men 20 1.10.3. Men and women 20 1.10.4. Risks to relatives 20 1.10.5. Reproductive options 21 Chapter 2. Lynch Syndrome 25 2.1. Introduction 25 2.2. Prevalence 27 2.3. Genes 28 2.4. Genotype-phenotype correlations 28 2.5. Penetrance and survival 29 2.6. Long-term prevalence of cancer in LS patients 30 2.7. Mode of transmission 33 2.8. When to suspect LS 33 2.8.1. Amsterdam II criteria 33 2.8.2. Criteria to help identify families with LS 33 2.8.3. Revised Bethesda criteria 34 2.8.4. Spectra and syndromes 34 2.9. Tumors 35 2.9.1. Colorectal cancer 35 2.9.2. Endometrial cancer 36 2.9.3. Bladder and urothelial tract 36 2.9.4. Dermatological tumors 37 2.9.5. Pancreatic tumors 38 2.9.6. Tumors of the ovary 38 2.9.7. Brain tumors 38 2.10. Monitoring 39 2.10.1. Colorectal cancer risks 39 2.10.2. GC risks 40 2.10.3. Risks of endometrial and ovarian cancer 40 2.10.4. Risks to the bladder and urothelial tract 41 2.10.5. Risks of dermatological tumors 42 2.10.6. Risks for other types of cancer 42 Chapter 3. Neurofibromatosis 43 3.1. Introduction 43 3.2. Neurofibromatosis type 1 43 3.2.1. Introduction 43 3.2.2. Prevalence 43 3.2.3. When to suspect NF1 44 3.2.4. Tumors 44 3.2.5. Gene 45 3.2.6. Genotype-phenotype correlations 46 3.2.7. Penetrance 46 3.2.8. Mode of transmission 47 3.2.9. Monitoring 48 3.3. Neurofibromatosis type 2 49 3.3.1. Introduction 49 3.3.2. Prevalence 51 3.3.3. When to suspect NF2 51 3.3.4. Tumors 51 3.3.5. Gene 52 3.3.6. Genotype-phenotype correlations 52 3.3.7. Penetrance 53 3.3.8. Mode of transmission 53 3.3.9. Risks to family members 53 3.3.10. Monitoring 54 3.4. Schwannomatosis 55 3.4.1. Introduction 55 3.4.2. Prevalence 55 3.4.3. When to suspect schwannomatosis 55 3.4.4. Tumors 55 3.4.5. Genes 56 3.4.6. Genotype-phenotype correlations 57 3.4.7. Penetrance 57 3.4.8. Mode of transmission 57 3.4.9. Monitoring 58 Chapter 4. Familial Adenomatous Polyposis 59 4.1. Introduction 59 4.1.1. FAP 59 4.1.2. AFAP 60 4.1.3. MAP 60 4.1.4. NAP 60 4.1.5. PPAP 60 4.2. Prevalence 61 4.2.1. FAP 61 4.2.2. MAP 61 4.2.3. NAP 62 4.2.4. PPAP 62 4.3. When to suspect FAP 63 4.4. Tumors 63 4.4.1. FAP 63 4.4.2. MAP 64 4.4.3. NAP 65 4.4.4. PPAP 65 4.5. Genes 65 4.5.1. APC 65 4.5.2. MUTYH 66 4.5.3. NTHL1 66 4.5.4. POLE and POLD1 66 4.6. Genotype-phenotype correlations 67 4.6.1. FAP 67 4.6.2. MAP 67 4.6.3. PPAP 68 4.7. Penetrance 68 4.7.1. FAP 68 4.7.2. MAP 68 4.7.3. PPAP 68 4.8. Mode of transmission 68 4.9. Monitoring 68 4.9.1. FAP 68 4.9.2. Monitoring of extracolonic cancer 69 4.9.3. MAP 70 4.9.4. NAP 70 4.9.5. PPAP 70 Chapter 5. Endocrine Neoplasia 73 5.1. Introduction 73 5.1.1. MEN1 73 5.1.2. MEN2 73 5.1.3. MEN4 74 5.1.4. HPT-JT 74 5.2. Prevalence 75 5.3. When to suspect endocrine neoplasia 75 5.4. Tumors 76 5.4.1. MEN1 76 5.4.2. MEN2 77 5.4.3. MEN4 77 5.4.4. HPT-JT 78 5.5. Genes 78 5.5.1. MEN1 78 5.5.2. RET 78 5.5.3. CDKN1B 79 5.5.4. CDC73 79 5.6. Genotype-phenotype correlations 79 5.6.1. MEN1 79 5.6.2. MEN2 79 5.6.3. MEN4 80 5.6.4. HPT-JT 80 5.7. Penetrance 80 5.7.1. MEN1 80 5.7.2. MEN2 81 5.7.3. MEN4 81 5.7.4. HPT-JT 81 5.8. Mode of transmission 81 5.9. Monitoring 82 5.9.1. MEN1 82 5.9.2. MEN2 83 5.9.3. MEN4 85 5.9.4. HPT-JT 85 Chapter 6. Hereditary Paraganglioma-pheochromocytoma 87 6.1. Introduction 87 6.2. Prevalence 88 6.3. When to suspect a PCC/PGL 88 6.3.1. Pheochromocytomas 88 6.3.2. Paragangliomas 89 6.3.3. Paragangliomas of the head and neck 89 6.3.4. Sympathetic paragangliomas 90 6.4. Tumors 90 6.5. Genes 92 6.5.1. SDHx, SDHAF2 and EPAS1 92 6.5.2. TMEM127 and MAX 93 6.6. Genotype-phenotype correlations 93 6.7. Penetrance 93 6.8. Mode of transmission 95 6.9. Monitoring 95 Chapter 7. Birt-Hogg-Dubé Syndrome 99 7.1. Introduction 99 7.2. Prevalence 99 7.3. When to suspect BHD syndrome 99 7.4. Tumors 100 7.5. Gene 101 7.6. Genotype-phenotype correlations 102 7.7. Penetrance 102 7.8. Mode of transmission 102 7.9. Monitoring 102 Chapter 8. RASopathies 105 8.1. Introduction 105 8.2. Prevalence 105 8.3. When to suspect RASopathies 105 8.4. Tumors 107 8.5. Genes 107 8.6. Genotype-phenotype correlations 108 8.7. Penetrance 108 8.8. Mode of transmission 108 8.9. Monitoring 109 Chapter 9. Familial Malignant Melanoma 111 9.1. Introduction 111 9.2. Prevalence 113 9.3. When to suspect familial malignant melanoma 113 9.4. Tumors 115 9.4.1. CDKN2A 115 9.4.2. BAP1 116 9.4.3. MITF 116 9.4.4. POT1 116 9.5. Genes 116 9.5.1. CDKN2A 116 9.5.2. MITF 117 9.5.3. POT1 117 9.6. Genotype-phenotype correlations 117 9.7. Penetrance 117 9.8. Mode of transmission 118 9.9. Monitoring 118 Chapter 10. Gorlin Syndrome 121 10.1. Introduction 121 10.2. Prevalence 121 10.3. When to suspect GS 121 10.4. Tumors 122 10.5. Genes 123 10.6. Genotype-phenotype correlations 123 10.7. Penetrance 124 10.8. Mode of transmission 124 10.9. Monitoring 124 Part 2. Infracentesimal Syndromes 125 Chapter 11. Li-Fraumeni Syndrome 127 11.1. Introduction 127 11.2. Gene 128 11.3. Tumors 128 11.4. Genetics 129 11.5. Monitoring 130 Chapter 12. Ataxia-telangiectasia 131 12.1. Introduction 131 12.2. Gene 131 12.3. Tumors 132 12.4 Genetics 132 12.5. Monitoring 132 Chapter 13. Hyperparathyroidism 135 13.1. Introduction 135 13.2. Gene 136 13.3. Tumors 136 13.3.1. FIHPT 136 13.3.2. FHH 136 13.3.3. NSHPT 137 13.4. Genetics 137 13.4.1. FIHPT 137 13.4.2. FHH 137 13.4.3. NSHPT 137 13.5. Monitoring 137 Chapter 14. Hamartomatous Polyposis Syndromes 139 14.1. PTEN-hamartoma tumor syndromes 139 14.1.1. Introduction 139 14.1.2. Gene 140 14.1.3. Tumors 140 14.1.4. Genetics 140 14.1.5. Monitoring 141 14.2. Juvenile polyposis syndrome 141 14.2.1. Introduction 141 14.2.2. Gene 142 14.2.3. Tumors 142 14.2.4. Genetics 142 14.2.5. Monitoring 143 14.3. Peutz-Jeghers syndrome 143 14.3.1. Introduction 143 14.3.2. Gene 143 14.3.3. Tumors 144 14.3.4. Genetics 144 14.3.5. Monitoring 145 Chapter 15. Fanconi Syndrome 147 15.1. Introduction 147 15.2. Gene 148 15.3. Tumors 148 15.4. Genetics 148 15.5. Monitoring 149 Chapter 16. Hereditary Diffuse Gastric Cancer 151 16.1. Introduction 151 16.2. Gene 151 16.3. Tumors 152 16.4. Genetics 152 16.5. Monitoring 152 Chapter 17. Von Hippel-Lindau Disease 155 17.1. Introduction 155 17.2. Gene 156 17.3. Tumors 156 17.4. Genetics 158 17.5. Monitoring 158 Chapter 18. Xeroderma Pigmentosum 161 18.1. Introduction 161 18.2. Gene 161 18.3. Tumors 162 18.4. Genetics 162 18.5. Monitoring 162 Chapter 19. Hereditary Papillary Renal Carcinoma 165 19.1. Introduction 165 19.2. Gene 165 19.2.1. MET 165 19.2.2. FH 166 19.3. Tumors 166 19.3.1. HPRC 166 19.3.2. HLRCC 166 19.4. Genetics 167 19.4.1. HPRC type 1 167 19.4.2. HLRCC 168 19.5. Monitoring 168 19.5.1. HPRC 168 19.5.2. HLRCC 168 Chapter 20. Retinoblastoma 171 20.1. Introduction 171 20.2. Gene 171 20.3. Tumors 171 20.4. Genetics 172 20.5. Monitoring 173 20.5.1. Monitoring for intraocular RB 173 20.5.2. Monitoring for trilateral RB 173 20.5.3. Monitoring of second primary tumors 173 Chapter 21. Carney Complex 175 21.1. Introduction 175 21.2. Gene 175 21.3. Tumors 176 21.4. Genetics 176 21.5. Monitoring 177 21.5.1. Screening of prepubescent children 177 21.5.2. Annual screening of children and postpubescent adults 178 Chapter 22. Hematological Malignancies 179 22.1. Introduction 179 22.2. Gene 180 22.3. Tumors 181 22.4. Genetics 182 22.5. Monitoring 182 Chapter 23. Familial Pituitary Adenomas 185 23.1. Introduction 185 23.2. Gene 186 23.3. Tumors 186 23.4. Genetics 187 23.5. Monitoring 187 Chapter 24. Bloom Syndrome 191 24.1. Introduction 191 24.2. Gene 191 24.3. Tumors 192 24.4. Genetics 192 24.5. Monitoring 193 Chapter 25. Werner Syndrome 195 25.1. Introduction 195 25.2. Gene 195 25.3. Tumors 196 25.4. Genetics 196 25.5. Monitoring 197 Appendix: Summary of the Book 199 References 221 Index 245

Descriere scurtă

In the age of genomics, oncogenetics is a growing discipline. It is defined as the identification and management of families where there is a suspected hereditary risk of cancer. This relatively new discipline is part of a modern medicine that aims to be both preventive and predictive. Constitutional Oncogenetics gives precise descriptions of the main syndromes that cause a predisposition for cancer. The first part examines the most common syndromes in the majority of the world, including the heightened hereditary risk of breast and ovarian cancer and Lynch syndrome. The second part introduces less common infracentesimal syndromes, such as Bloom syndrome and Fanconi syndrome. This book is intended for oncogenetic practitioners and other specialists, as well as medical students.