Covering all aspects of molecular pathology as it relates to the transformation and pathogenesis of cancer, this award-winning volume in the Diagnostic Pathology series is an expert resource for pathologists at all levels of experience and training. Prev. ed.: 2015.
Covering all aspects of molecular pathology as it relates to the transformation and pathogenesis of cancer, this award-winning volume in the Diagnostic Pathology?series is an expert resource for pathologists at all levels of experience and training, both as a quick reference and as an efficient review to improve knowledge and skills. This easily accessible, point-of-care reference features templated, bulleted content that is generously illustrated with charts, graphs, tables, and color photomicrographs of histology with special stains. It offers a practical, clinical approach to examining how molecular mutations affect common medical diseases and identifies the relevant and appropriate molecular tests to perform for a complete work-up in the era of molecular-targeted therapies. Provides updated information on molecular mutations in different tumors, including solid tumors and hematopoietic neoplasms, and new targeted therapies geared toward these molecular alterations Discusses now widely used immunotherapy treatments, including how immunotherapy has revolutionized the treatment of many neoplasms such as breast and lung carcinomas and lymphoma Features more than 2,000 annotated images throughout, including H&E stains, immunostains, and FISH images Covers timely topics such as: Recent advances in cancer immunotherapy, specifically in the molecular basis of immunotherapy Newly discovered targeted therapies, including multiple lung carcinoma therapies now considered for patients based on existing mutations to specific genes (KRAS, ALK, BRAF, and ROS) The need for integration of myeloid and lymphoid gene panels due to increased knowledge from next generation sequencing studies of new mutations and the resulting newly developed molecular targets Increased usage of next generation sequencing techniques Changes to hematopoietic tumor details based on revised WHO guidelines Recipient of a 2016 BMA Award: Highly Commended, Pathology (previous edition) Enhanced eBook version included with purchase, which allows you to access all of the text, figures, and references from the book on a variety of devices
Table of Contents
DP2 Molecular Oncology: Auerbach and Vasef Introduction Structure of Chromosomes and Nucleic Acids DNA Replication, Transcription, and Translation Gene Mutations Common Techniques for Analysis of Alterations in Chromosomes and DNA Cytogenetics and FISH Chromosomal Microarray Amplification Methods DNA High-Resolution Melting Curve Analysis Sequencing Technologies High-Throughput Methods in Molecular Pathology DNA Methylation Analysis Molecular Genetic Tests in Hematopoietic Tumors *BCR-ABL1* Fusion Gene *PDGFRA*, *PDGFRB*, and *FGFR1* Rearrangements Detection PML-RARA Fusion Gene Reverse Transcription PCR for Other Myeloid Leukemia Transcripts FLT3, NPM1, and CEBPA Mutations JAK2 Mutations and Rearrangements MPL Mutations Calreticulin (CALR) Mutations CSF3R Mutations SETBP1 Mutations KIT Mutations IDH1 and IDH2 Mutations Other Mutations and Gene Panel Testing in Myeloid Neoplasms Immunoglobulin Heavy (IGH) Chain Gene Rearrangements T-Cell Receptor Gamma (TRG) and Delta (TRD) Chain Rearrangements T-Cell Receptor Beta (TRB) Chain Gene Rearrangements Southern Blot Analysis of Antigen Receptor Genes EBV-Associated Human Neoplasms MYD88 Mutation NOTCH1 Mutation EZH2 Mutation Molecular Genetic Tests in Solid Tumors, Bone and Soft Tissue Tumors, and CNS Tumors ALK Gene Rearrangements and Mutations FISH for ROS1 Rearrangements RET Rearrangements FISH for MET Amplifications FISH for ERBB2 (HER2) Gene Amplifications KRAS Mutations BRAF Mutations EGFR Mutations Targeted Hotspot Gene Panel Using Massively Parallel Sequencing (Next Generation Sequencing) Targeted Hotspot Gene Panel Table MGMT Promoter Gene Methylation Assay MET Exon 14 Skip Mutations NGS Panels for NCI MATCH FISH for 1p/19q Deletions IDH1 and IDH2 Mutations Molecular Basis of Immunotherapy in Cancer Molecular Pathology of Myeloid Neoplasms Molecular Pathology of Myeloid Neoplasms Molecular Work-Up of Myeloid Neoplasms Myeloproliferative Neoplasms Chronic Myeloid Leukemia, BCR-ABL1 Positive Chronic Neutrophilic Leukemia Polycythemia Vera Primary Myelofibrosis Essential Thrombocythemia Chronic Eosinophilic Leukemia, NOS Mastocytosis Myeloproliferative Neoplasms, Unclassifiable Mastocytosis Myeloid/Lymphoid Neoplasms With PDGFRA Rearrangement Myeloid/Lymphoid Neoplasms With PDGFRB Rearrangement Myeloid/Lymphoid Neoplasms With FGFR1 Rearrangement Myeloid/Lymphoid Neoplasms With PCM1-JAK2 Myelodysplastic Syndrome (MDS) Overview and Classification of MDS Myelodysplastic Syndromes With Single Lineage Dysplasia Myelodysplastic Syndrome With Ring Sideroblasts Myelodysplastic Syndrome With Multilineage Dysplasia Myelodysplastic Syndrome With Excess Blasts Myelodysplastic Syndrome With Excess Blasts and Erythroid Predominance Myelodysplastic Syndrome With Excess Blasts and Fibrosis Myelodysplastic Syndrome With Isolated del(5q) Myelodysplastic Syndrome, Unclassifiable Childhood Myelodysplastic Syndrome and Refractory Cytopenia of Childhood Myelodysplastic/Myeloproliferative Neoplasms Overview of Myelodysplastic/Myeloproliferative Neoplasms Chronic Myelomonocytic Leukemia Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative Juvenile Myelomonocytic Leukemia Myelodysplastic/Meloproliferative Neoplasm With Ring Sideroblasts and Thrombocytosis Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable Myeloid Neoplasms With Germline Predisposition Acute Myeloid Leukemia Overview of Acute Myeloid Leukemia Acute Myeloid Leukemia With t(8;21); RUNX1-RUNX1T1 Acute Myeloid Leukemia With inv(16) or t(16;16); CBFB-MYH11 Acute Promyelocytic Leukemia With t(15;17); PML-RARA Acute Myeloid Leukemia With t(9;11); MLLT3-KMT2A Acute Myeloid Leukemia With t(6:9); DEK-NUP214 Acute Myeloid Leukemia With inv(3) or t(3;3); RPN1-MECOM Acute Myeloid Leukemia (Megakaryoblastic) With t(1;22); RBM15-MKL1 Acute Myeloid Leukemia With BCR-ABL1 Acute Myeloid Leukemia With Gene Mutations Acute Myeloid Leukemia With Mutated NPM1 Acute Myeloid Leukemia With Biallelic Mutation of CEBPA Acute Myeloid Leukemia With Mutated RUNX1 Acute Myeloid Leukemia With Myelodysplasia-Related Changes Acute Myeloid Leukemia, NOS Therapy-Related Myeloid Neoplasms Myeloid Sarcoma Myeloid Proliferations Associated With Down Syndrome Blastic Plasmacytoid Dendritic Cell Neoplasm Blastic Plasmacytoid Dendritic Cell Neoplasm Acute Leukemias of Ambiguous Lineage Overview of Ambiguous Lineage Leukemias Acute Undifferentiated and Mixed Phenotype Acute Leukemias Molecular Pathology of Lymphoid Neoplasms Overview of Lymphoid Neoplasms Molecular Work-Up of Lymphoid Neoplasms Precursor Lymphoid Neoplasms B-Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormalities B-Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like T-Lymphoblastic Leukemia/Lymphoma Mature B-Cell Neoplasms Small Lymphocytic Lymphoma/Chronic Lymphocytic Leukemia Monoclonal B-Cell Lymphocytosis B-Cell Prolymphocytic Leukemia Splenic Marginal Zone Lymphoma Hairy Cell Leukemia Splenic B-Cell Lymphoma/Leukemia, Unclassifiable Lymphoplasmacytic Lymphoma IgM Monoclonal Gammopathy of Undetermined Significance Heavy Chain Disease ?-Heavy Chain Disease ?-Heavy Chain Disease ?-Heavy Chain Disease Plasma Cell Myeloma Marginal Zone Lymphoma Follicular Lymphoma Large B-Cell Lymphoma With IRF4 Rearrangement Mantle Cell Lymphoma Diffuse Large B-Cell Lymphoma T-Cell/Histiocyte-Rich Large B-Cell Lymphoma Diffuse Large B-Cell Lymphoma Associated With Chronic Inflammation Burkitt Lymphoma High-Grade B-Cell Lymphoma Mature T- and NK-Cell Neoplasms T-Cell Prolymphocytic Leukemia Chronic Lymphoproliferative Disorder of NK Cells Aggressive NK-Cell Leukemia Extranodal NK-/T-Cell Lymphoma, Nasal Type Adult T-Cell Leukemia/Lymphoma Intestinal T-Cell Lymphoma Hepatosplenic T-Cell Lymphoma Subcutaneous Panniculitis-Like T-Cell Lymphoma Mycosis Fungoides/Sezary Syndrome Primary Cutaneous CD30-Positive T-Cell Lymphoproliferative Disorders Primary Cutaneous Peripheral T-Cell Lymphoma, Rare Subtypes Peripheral T-Cell Lymphoma, Not Otherwise Specified Angioimmunoblastic T-Cell Lymphoma Anaplastic Large Cell Lymphoma, ALK-Negative Anaplastic Large Cell Lymphoma, ALK-Positive Breast Implant-Associated Anaplastic Large Cell Lymphoma Determination of Clonality in B-, T-, and NK-Cell Neoplasms Lymphoma-Associated Chromosomal Translocations Molecular Pathology of Dendritic Cell and Histiocytic Neoplasms Histiocytic Sarcoma Tumors Derived From Langerhans Cells Interdigitating Dendritic Cell Tumor Interdigitating Dendritic Cell Sarcoma Follicular Dendritic Cell Neoplasm Fibroblastic Reticular Cell Tumor Disseminated Juvenile Xanthogranuloma Erdheim-Chester Disease Molecular Pathology of Solid Tumors Head and Neck, Including Sinonasal Tumors and Salivary Glands HPV-Related Squamous Cell Carcinoma Head and Neck Mucosal Squamous Cell Carcinoma, Non-HPV-Related Important Alterations in Non-HPV-Related Head & Neck SCC Translocation-Specific Salivary Gland Tumors Nasopharyngeal EBV-Related Squamous Carcinoma Other Head and Neck Tumors Thyroid Papillary Thyroid Carcinoma Follicular Thyroid Carcinoma Poorly Differentiated Thyroid Carcinoma Undifferentiated Thyroid Carcinoma Medullary Thyroid Carcinoma Lung Adenocarcinoma, Lung Squamous Cell Carcinoma, Lung Small Cell Neuroendocrine Carcinoma Mesothelioma Luminal GI Tract Gastric Adenocarcinoma Colorectal Adenocarcinoma and Precancerous Lesions Gastrointestinal Stromal Tumor Liver HNF1?-Inactivated Hepatocellular Adenoma ?-Catenin-Activated Hepatocellular Adenoma Inflammatory Hepatocellular Adenoma Hepatocellular Carcinoma Pancreaticobiliary Pancreatic Ductal Adenocarcinoma Pancreatic Mucinous Cystic Neoplasm Pancreatic Intraductal Papillary Mucinous Neoplasm Cholangiocarcinoma Testis Testicular Germ Cell Tumors Kidney Clear Cell Renal Cell Carcinoma Chromophobe Renal Cell Carcinoma Papillary Renal Cell Carcinoma MiT Family Translocation Renal Cell Carcinoma Wilms Tumor Clear Cell Sarcoma of Kidney Oncocytoma Rhabdoid Tumor of Kidney Bladder Urothelial Carcinoma Adrenal Pheochromocytoma/Paraganglioma Adrenal Cortical Carcinoma Neuroblastoma Adrenal Cortical Adenoma Prostate Prostatic Adenocarcinoma, Acinar Type and High-Grade Prostatic Intraepithelial Neoplasia Breast ADH and DCIS (Dysplastic, Premalignant) Ductal Carcinomas Lobular Carcinoma Carcinoma With Medullary Features, Breast Metaplastic Breast Carcinoma Phyllodes Tumors Basal-Like and Triple-Negative Carcinomas Cervix/Vulva/Vagina Preneoplastic Conditions, Cervix/Vulva/Vagina Squamous Cell Carcinoma, Cervix/Vulva/Vagina Adenocarcinoma, Cervix/Vulva/Vagina Uterus Endometrial Intraepithelial Neoplasia Uterine Endometrioid Carcinoma Uterine Serous Carcinoma Clear Cell Carcinoma, Uterus Uterine Sarcomas Ovaries/Fallopian Tube Serous Tumors of Ovary and Fallopian Tube Other Surface Epithelial Tumors of the Ovary Sex Cord-Stromal Tumors of the Ovary Germ Cell Tumor, Ovary Skin Preneoplastic Conditions, Skin Melanoma Squamous Cell Carcinoma, Skin Basal Cell Carcinoma, Skin Other Skin Conditions Bone Osteosarcomas Overview of Molecular Pathology of Bone and Soft Tissue Tumors Ewing Sarcoma Other Small Round Blue Cell Sarcomas Giant Cell Tumor of Bone Intermediate and Malignant Cartilaginous Tumors of Bone Soft Tissue Overview Intermediate and Malignant Myofibroblastic/Fibroblastic Tumors Liposarcomas Muscle Sarcomas Intermediate and Malignant Vascular Tumors Malignant Peripheral Nerve Sheath Tumor Representative Genetic Findings in Bone and Soft Tissue Tumors Sarcomas of Uncertain Differentiation Rare Sarcomas of Uncertain Differentiation With Specific Molecular Alterations CNS High-Grade Astrocytoma Low-Grade Astrocytoma Pilocytic Astrocytoma Oligodendroglioma Ependymoma Medulloblastoma Choroid Plexus Tumors Meningioma Retinoblastoma Quality Assurance and Regulatory Issues Federal Agencies and Regulation of Laboratories FDA Regulations Proficiency Testing and Accreditation