Diagnostic Pathology: Molecular Oncology, 3rd Edition

Main Author : By Mohammad A. Vasef, MD and Aaron Auerbach, MD, MPH

ISBN : 9780443112201

Trim : 216w x 276h

Illustrations : More than 2,300 print and online images, including high-resolution H&E stains, immunostains, FISH images, 

                 gross pathology and clinical photographs, detailed full-color medical illustrations, and informative diagrams, 

                 charts, and schematics

Imprint : Elsevier

Publication Date : Dec 2023

Page : 1048

Description

This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Providing a clear understanding of molecular pathology as it relates to the transformation and pathogenesis of cancer in an era of personalized medicine, it incorporates the most recent scientific and technical knowledge in the field to provide a comprehensive overview of all key issues relevant to today’s practice. Richly illustrated and easy to use, the third edition of Diagnostic Pathology: Molecular Oncology is a visually stunning, one-stop resource for every practicing pathologist, hematopathologist, molecular pathologist, oncologist, or pathologist in training as an ideal day-to-day reference or as a reliable learning resource. 

New to this edition

Molecular oncology is a rapidly evolving field with tremendous amounts of information that is new since the 2e published in March 2019. There is new molecular genetic data linked to either new targeted therapies or that serves as diagnostic or prognostic indicators. The 3e will include 8-10 new chapters and substantial updates and rewrites to existing contents to make sure ongoing edits and revisions to the upcoming WHO Classification of Hematopoietic Tumors are included in the 3e. The authors provide guidance on selecting the right test(s) at the right time for the right patient and comparisons of molecular testing methods (i.e., FSH testing vs. cytogenetics) are included. The market lacks a definitive source of all the recent changes, and DP3 Molecular Oncology will provide a comprehensive information source.

Key Features

• Provides up-to-date, comprehensive coverage of relevant molecular tests and their clinical applications, along with organ-based chapters on the molecular genetic data relevant to individual disease entities

• Contains new chapters and substantial revisions to existing content that include updates from the 2022 International Consensus Classification and the WHO Classification of Haematolymphoid Tumours, fifth edition

• Provides expert guidance on selecting the right test(s) at the right time, as well as comparisons of molecular testing methods (e.g., FISH vs. cytogenetics)

• Includes current information for new actionable mutations and targeted therapies

• Covers ultrasensitive molecular techniques for minimal residual disease detection and disease monitoring

• Discusses circulating cell-free DNA analysis for detection of resistance-associated mutations and disease monitoring, and provides usage details

• Features an image-rich layout with more than 2,400 print and online-only images, including high-resolution H&E stains, immunostains, FISH images, gross pathology and clinical photographs, detailed full-color medical illustrations, and informative diagrams, charts, and schematics

• Employs consistently templated chapters, bulleted content, key facts, a variety of tables, annotated images, pertinent references, and an extensive index for quick, expert reference at the point of care

• Includes an eBook version that enables you to access all text, figures, and references with the ability to search, customize your content, make notes and highlights, and have content read aloud

Table Of Contents

SECTION 1: INTRODUCTION

4 Structure of Chromosomes and Nucleic Acids

8 DNA Replication, Transcription, and Translation

12 Gene Mutations

SECTION 2: COMMON TECHNIQUES FOR ANALYSIS OF ALTERATIONS IN CHROMOSOMES AND DNA

18 Cytogenetics and FISH

22 Chromosomal Microarray

26 Amplification Methods

30 DNA High-Resolution Melting Curve Analysis

32 Sequencing Technologies

36 High-Throughput Methods in Molecular Pathology

38 DNA Methylation Analysis

SECTION 3: MOLECULAR GENETIC TESTS IN HEMATOPOIETIC TUMORS

42 BCR::ABL1 Fusion

46 PML::RARA Fusion

48 Reverse Transcription PCR for Myeloid Leukemia Transcripts

50 FLT3, NPM1, and CEBPA Mutations

54 JAK2 Mutations and Rearrangements

56 MPL Mutations

58 Calreticulin (CALR) Mutations

60 CSF3R Mutations

62 SETBP1 Mutations

64 KIT Mutations

68 IDH1 and IDH2 Mutations

70 Other Mutations and Gene Panel Testing in Myeloid Neoplasms

72 Immunoglobulin Heavy (IGH) Chain Gene Rearrangements

76 T-Cell Receptor Gamma (TRG) and Delta (TRD) Chain Rearrangements

80 T-Cell Receptor Beta (TRB) Chain Gene Rearrangements

84 Southern Blot Analysis of Antigen Receptor Genes

86 EBV-Associated Human Neoplasms

94 MYD88 Mutation

96 NOTCH1 Mutation

98 EZH2 Mutation

SECTION 4: MOLECULAR GENETIC TESTS IN SOLID TUMORS, BONE AND SOFT TISSUE TUMORS, AND CNS TUMORS

104 ALK Rearrangements and Mutations

106 ROS1 Rearrangements

108 RET Rearrangements

110 FISH for MET Amplifications

114 FISH for ERBB2 (HER2) Amplifications

116 KRAS Mutations

118 BRAF Mutations

120 EGFR Mutations

122 Targeted Hotspot Gene Panel Using Massively

Parallel Sequencing (Next-Generation Sequencing)

124 Targeted Hotspot Gene Panel Table

130 MGMT Promoter Gene Methylation Assay

SECTION 5: MOLECULAR PATHOLOGY OF MYELOID NEOPLASMS

134 Molecular Work-Up of Myeloid Neoplasms

MYELOPROLIFERATIVE NEOPLASMS

136 Chronic Myeloid Leukemia, BCR::ABL1-Positive

144 Chronic Neutrophilic Leukemia

148 Polycythemia Vera

152 Primary Myelofibrosis

156 Essential Thrombocythemia

160 Chronic Eosinophilic Leukemia, NOS

162 Myeloproliferative Neoplasm, Unclassifiable

MASTOCYTOSIS

166 Mastocytosis

MYELOID/LYMPHOID NEOPLASMS WITH EOSINOPHILIA AND GENE REARRANGEMENT

174 Myeloid/Lymphoid Neoplasms With Eosinophilia and Tyrosine Kinase Gene Fusions

PREMALIGNANT CLONAL HEMATOPOIESIS AND CYTOPENIAS

178 VEXAS Syndrome

182 Clonal Hematopoiesis and Premalignant Clonal Cytopenia

MYELODYSPLASTIC SYNDROME (MDS)

184 Overview and Classification of Myelodysplastic Syndrome

188 Myelodysplastic Syndrome With Mutated SF3B1

192 Myelodysplastic Syndrome, NOS

200 Myelodysplastic Syndrome With del(5q)

204 Myelodysplastic Syndrome With TP53 Multihit Mutations

206 Myelodysplastic Syndrome/Acute Myeloid Leukemia

208 Pediatric Myelodysplastic Syndrome and Refractory Cytopenia of Childhood

MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASMS

214 Overview of Myelodysplastic/Myeloproliferative Neoplasms

216 Chronic Myelomonocytic Leukemia

220 Atypical Chronic Myeloid Leukemia

224 Juvenile Myelomonocytic Leukemia

228 Myelodysplastic/Myeloproliferative Neoplasm, NOS

ACUTE MYELOID LEUKEMIA

232 Overview of Acute Myeloid Leukemia

240 Acute Myeloid Leukemia With t(8;21)/RUNX1::RUNX1T1

244 Acute Myeloid Leukemia With inv(16) or t(16;16)/CBFB::MYH11

248 Acute Promyelocytic Leukemia With t(15;17)/PML::RARA

254 Acute Myeloid Leukemia With t(9;11)/MLLT3::KMT2A

258 Acute Myeloid Leukemia With t(6:9)/DEK::NUP214

260 Acute Myeloid Leukemia With inv(3) or t(3;3)/GATA2; MECOM

262 Acute Myeloid Leukemia (Megakaryoblastic) With t(1;22)/RBM15::MRTFA

264 Acute Myeloid Leukemia With Myelodysplasia-Related Gene Mutations or Cytogenetic Abnormalities

270 Acute Myeloid Leukemia, NOS

276 Myeloid Sarcoma

280 Myeloid Proliferations Associated With Down Syndrome

BLASTIC PLASMACYTOID DENDRITIC CELL NEOPLASM

284 Blastic Plasmacytoid Dendritic Cell Neoplasm

SECTION 6: MOLECULAR PATHOLOGY OF LYMPHOID NEOPLASMS

292 Overview of Lymphoid Neoplasms

296 Molecular Work-Up of Lymphoid Neoplasms

DETERMINATION OF CLONALITY IN B-, T-, AND NK-CELL NEOPLASMS

298 Lymphoma-Associated Chromosomal Translocations

PRECURSOR LYMPHOID NEOPLASMS

302 B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormalities

306 B-Lymphoblastic Leukemia/Lymphoma, BCR::ABL1-Like (Ph-Like ALL)

310 T-Lymphoblastic Leukemia/Lymphoma

MATURE B-CELL NEOPLASMS

316 Small Lymphocytic Lymphoma/Chronic Lymphocytic Leukemia

322 B-Cell Prolymphocytic Leukemia

326 Splenic Marginal Zone Lymphoma

332 Hairy Cell Leukemia

336 Splenic B-Cell Lymphoma/Leukemia, Unclassifiable

344 Lymphoplasmacytic Lymphoma

350 Monoclonal Gammopathy of Undetermined Significance

354 Multiple Myeloma (Plasma Cell Myeloma)

362 Follicular Lymphoma

370 Mantle Cell Lymphoma

376 Diffuse Large B-Cell Lymphoma

386 Burkitt Lymphoma

MATURE T- AND NK-CELL NEOPLASMS

394 T-Cell Prolymphocytic Leukemia

398 Chronic Lymphoproliferative Disorder of NK Cells

402 Aggressive NK-Cell Leukemia

406 Extranodal NK-/T-Cell Lymphoma

410 Adult T-Cell Leukemia/Lymphoma

416 Intestinal T-Cell Lymphoma

424 Hepatosplenic T-Cell Lymphoma

428 Subcutaneous Panniculitis-Like T-Cell Lymphoma

432 Mycosis Fungoides/Sézary Syndrome

438 Primary Cutaneous CD30-Positive T-Cell

Lymphoproliferative Disorders

442 Peripheral T-Cell Lymphoma, NOS

448 Nodal Follicular Helper T-Cell Lymphoma

456 Anaplastic Large Cell Lymphoma, ALK-Negative

462 Anaplastic Large Cell Lymphoma, ALK-Positive

SECTION 7: MOLECULAR PATHOLOGY OF DENDRITIC CELL AND HISTIOCYTIC NEOPLASMS

470 Histiocytic Sarcoma

478 Langerhans Cell Histiocytosis

484 Interdigitating Dendritic Cell Sarcoma

488 Follicular Dendritic Cell Sarcoma

SECTION 8: MOLECULAR PATHOLOGY OF SOLID TUMORS

HEAD AND NECK, INCLUDING SINONASAL TUMORS AND SALIVARY GLANDS

494 HPV-Associated Head and Neck Carcinomas

500 Head and Neck Mucosal Squamous Cell Carcinoma, Non-HPV Related

506 Important Alterations in Non-HPV-Related Head and Neck Squamous Cell Carcinoma

508 Translocation-Specific Salivary Gland Tumors

518 Translocation-Specific Salivary Gland Tumors (Continued)

526 Nasopharyngeal EBV-Related Squamous Cell Carcinoma

530 Other Head and Neck Tumors

THYROID

538 Papillary Thyroid Carcinoma

542 Follicular Thyroid Carcinoma

546 Poorly Differentiated Thyroid Carcinoma

550 Anaplastic Thyroid Carcinoma

554 Medullary Thyroid Carcinoma

LUNG

560 Adenocarcinoma, Lung

568 Squamous Cell Carcinoma, Lung

572 Small Cell Neuroendocrine Carcinoma

576 Mesothelioma

LUMINAL GASTROINTESTINAL TRACT

580 Gastric Adenocarcinoma

584 Colorectal Adenocarcinoma and Precancerous Lesions

590 Gastrointestinal Stromal Tumor

LIVER

598 HNF1A-Inactivated Hepatocellular Adenoma

602 ß-Catenin-Activated Hepatocellular Adenoma

606 Inflammatory Hepatocellular Adenoma

610 Hepatocellular Carcinoma

PANCREATICOBILIARY

614 Pancreatic Ductal Adenocarcinoma

618 Pancreatic Mucinous Cystic Neoplasm

620 Pancreatic Intraductal Papillary Mucinous Neoplasm

622 Cholangiocarcinoma

TESTIS

624 Testicular Germ Cell Tumors

KIDNEY

630 Clear Cell Renal Cell Carcinoma

634 Chromophobe Renal Cell Carcinoma

636 Papillary Renal Cell Carcinoma

638 TFE3-Rearranged and TFEB-Altered Renal Cell Carcinomas

642 Wilms Tumor

648 Clear Cell Sarcoma of Kidney

650 Oncocytoma

652 Rhabdoid Tumor of Kidney

BLADDER

654 Urothelial Carcinoma

ADRENAL

660 Pheochromocytoma/Paraganglioma

666 Adrenal Cortical Carcinoma

672 Neuroblastoma

680 Adrenal Cortical Adenoma

PROSTATE

684 Prostatic Adenocarcinoma, Acinar Type and High-Grade Prostatic Intraepithelial Neoplasia

BREAST

688 ADH and DCIS (Dysplastic, Premalignant)

694 Ductal Carcinomas

700 Lobular Carcinoma

706 Invasive Ductal Carcinoma of No Special Type With Medullary Features

710 Metaplastic Breast Carcinoma

716 Phyllodes Tumors

720 Basal-Like and Triple-Negative Breast Carcinomas

CERVIX/VULVA/VAGINA

730 Preneoplastic Conditions, Cervix/Vulva/Vagina

734 Squamous Cell Carcinoma, Cervix/Vulva/Vagina

738 Adenocarcinoma, Cervix/Vulva/Vagina

UTERUS

742 Endometrial Intraepithelial Neoplasia

744 Uterine Endometrioid Carcinoma

748 Uterine Serous Carcinoma

750 Clear Cell Carcinoma, Uterus

754 Uterine Sarcomas

OVARIES/FALLOPIAN TUBE

762 Serous Tumors of Ovary and Fallopian Tube

768 Other Surface Epithelial Tumors of Ovary

774 Sex Cord-Stromal Tumors of Ovary

780 Germ Cell Tumor, Ovary

SKIN

784 Premalignant Conditions, Skin

788 Melanoma

792 Squamous Cell Carcinoma, Skin

796 Basal Cell Carcinoma, Skin

800 Sebaceous Tumors

802 Dermatofibroma and Dermatofibrosarcoma Protuberans

BONE

804 Overview of Molecular Pathology of Bone and Soft Tissue Tumors

810 Osteosarcomas

818 Ewing Sarcoma

824 Other Small Round Blue Cell Sarcomas

832 Giant Cell Tumor of Bone

838 Intermediate and Malignant Cartilaginous Tumors of Bone

SOFT TISSUE

848 Intermediate and Malignant Myofibroblastic/Fibroblastic Tumors

858 Liposarcomas

868 Muscle Sarcomas

878 Intermediate and Malignant Vascular Tumors

886 Malignant Peripheral Nerve Sheath Tumor

892 Representative Genetic Findings in Bone and Soft Tissue Tumors

SARCOMAS OF UNCERTAIN DIFFERENTIATION

898 Rare Sarcomas of Uncertain Differentiation With Specific Molecular Alterations

908 Rare Sarcomas of Uncertain Differentiation With Specific Molecular Alterations (Continued)

CNS

916 Glioblastoma, IDH Wildtype

920 Astrocytoma, IDH-Mutant

924 Pilocytic Astrocytoma

928 Oligodendroglioma, IDH Mutant, and 1p/19q Codeleted

932 Ependymal Tumors

938 Medulloblastoma

944 Choroid Plexus Tumors

948 Meningioma

952 Retinoblastoma

SECTION 9: QUALITY ASSURANCE AND REGULATORY ISSUES

958 Federal Agencies and Regulation of Laboratories

960 FDA Regulations

966 Proficiency Testing and Accreditation

Author Information

By Mohammad A. Vasef, MD, Professor, Department of Pathology, Director of MGP Fellowship Program, Medical Director of Molecular Diagnostics, University of New Mexico/Tricore Ref Lab, Albuquerque, New Mexico and Aaron Auerbach, MD, MPH, Senior Hematopathologist, Joint Pathology Center, Silver Spring, Maryland