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.
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
µ-Heavy Chain Disease
y-Heavy Chain Disease
a-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
HNF1a-Inactivated Hepatocellular Adenoma
ß-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
