Atlas of Diagnostic Hematology

Front Cover
IFC
Atlas of DIAGNOSTIC HEMATOLOGY
Atlas of DIAGNOSTIC HEMATOLOGY
Copyright
Dedication
PREFACE
CONTRIBUTORS
CONTENTS
1 -
Normal Hematopoiesis and Blood Cell Maturation
HEMATOPOIETIC DEVELOPMENT
ROAD MAPS OF HEMATOPOIESIS: CELLULAR PATHWAYS AS HSCS DIFFERENTIATE INTO TERMINALLY MATURE CELLS
Transcriptional Control of Hematopoiesis
Hematopoietic Niche
REFERENCES
2 -
Growth Factors
HEMATOPOIETIC CYTOKINES AND GROWTH FACTORS
SIGNALING AT DIFFERENT STAGES OF HEMATOPOIESIS
CYTOKINE RECEPTORS
SIGNALING PATHWAYS DOWNSTREAM OF CYTOKINE RECEPTORS
WNT Pathway
The Ras/MAPK Kinase Pathway
PI3 Kinase Pathway
JAK-STAT Pathway
Cytokine Signaling Pathways
MUTATIONS IN SIGNALING COMPONENTS LEAD TO CLONAL HEMATOPOIESIS AND HEMATOLOGIC DISORDERS
REFERENCES
3 -
Hypochromic and Hemolytic Anemias
INTRODUCTION
HYPOCHROMIC ANEMIAS
Iron Deficiency Anemia
Anemia of Chronic Disease
Iron-Refractory Iron Deficiency Anemia
Other Vitamin Deficiencies
Hereditary Sideroblastic Anemia
HEMOLYTIC ANEMIAS
Hypochromic and Hemolytic Anemias
α-Thalassemia
β-Thalassemias
Other Thalassemias
HEMOLYSIS WITHOUT HYPOCHROMIA
Congenital
Structural Hemoglobin Disorders
. Sickle cell disease (homozygous S hemoglobin) is a severe hemolytic anemia with a markedly shortened red blood cell life span....
. Hemoglobin C is a slightly less common structural hemoglobin variant, with the highest frequency in West Africa, potentially a...
. Unstable hemoglobins may lead to a congenital hemolytic anemia with Heinz bodies visible from hemoglobin precipitation on a pe...
. Membrane defects cause hemolysis by the inability of the erythrocyte to withstand normal shear stress and distortion required ...
Hereditary Spherocytosis
Hereditary Elliptocytosis
Osmotic Defects
Hereditary Xerocytosis
Hereditary Stomatosis
Acquired Osmotic Defects
Enzyme Deficiencies
Pyruvate Kinase Deficiency
Acquired Causes of Hemolytic Anemia
. Autoimmune hemolytic anemia may develop as a result of underlying autoimmune disease (particularly systemic lupus erythematosu...
. Paroxysmal cold hemoglo
. Multiple mechanisms of drug-induced hemolysis have been described. Although proven cases are quite rare, estimated at 1 in 1 m...
. Alloimmune hemolytic disease of the fetus and newborn results from transplacental transmission of maternal antibodies that bin...
. Increased intravascular hemolysis may be caused by mechanical disruption in the vasculature or partial vascular occlusions.69 ...
. Paroxysmal nocturnal hemoglobinuria (PNH) results from an acquired mutation in hematopoietic stem cells in the PIGA gene, loca...
Infectious Causes of Hemolytic Anemia
Other Systemic Illnesses and Hemolytic Anemia
Hyperthyroidism
Renal Disease
Decrease in Erythropoietin
REFERENCES
4 -
Megaloblastic Anemia
GENERAL OVERVIEW AND INCIDENCE
ETIOLOGY AND HISTOPATHOLOGY
REFERENCES
5 -
Myeloproliferative Neoplasms
GENERAL OVERVIEW
Anchor 253
POLYCYTHEMIA VERA
Differential Diagnosis
ESSENTIAL THROMBOCYTHEMIA
Differential Diagnosis
PRIMARY MYELOFIBROSIS
Clinical Presentation
Differential Diagnosis
Epidemiology and Prognosis
Complications
CHRONIC MYELOID LEUKEMIA
Differential Diagnosis
REFERENCES
6 -
Mast Cell and Non-Myeloproliferative Myeloid Neoplasms
GENERAL OVERVIEW AND INCIDENCE
Incidence/Etiology
Clinical Presentation5–7
Diagnostic Features/Classification
LABORATORY MANIFESTATIONS/PATHOLOGIC FEATURES
Cytogenetic Features
Molecular Genetic Features
REFERENCES
7 -
Myelodysplastic Syndromes
GENERAL OVERVIEW
WHO CLASSIFICATION
MORPHOLOGIC FEATURES
Erythroid Cells
Myeloid Cells
Megakaryocytes
FLOW CYTOMETRY IN MDS
CYTOGENETICS AND MOLECULAR ABNORMALITIES
SPECIAL CONSIDERATIONS
MDS With Isolated 5q Deletion
Hypocellular MDS
MDS With Fibrosis
REFERENCES
8 -
Acute Myeloid Leukemia
A BRIEF OVERVIEW OF ACUTE MYELOID LEUKEMIA
BASIC PATHOPHYSIOLOGIC PRINCIPLES
EPIDEMIOLOGY
CLINICAL PRESENTATION
LABORATORY MANIFESTATIONS
PATHOLOGIC FEATURES
CYTOGENETIC FEATURES
MOLECULAR GENETIC FEATURES
CLASSIFICATION SYSTEMS
PROGNOSIS
THE UNIQUE CASE OF ACUTE PROMYELOCYTIC LEUKEMIA
REFERENCES
9 -
Precursor Lymphoid Neoplasms
GENERAL OVERVIEW AND INCIDENCE
ETIOLOGY
CLINICAL PRESENTATION
DIAGNOSTIC FEATURES
LABORATORY MANIFESTATIONS
HISTOPATHOLOGIC FEATURES
Differential Diagnoses
IMMUNOPHENOTYPIC FEATURES
CYTOGENETIC FEATURES
MOLECULAR GENETIC FEATURES
REFERENCES
10 -
B-Cell Chronic Lymphoid Leukemias
CHRONIC LYMPHOCYTIC LEUKEMIA/SMALL LYMPHOCYTIC LYMPHOMA
MONOCLONAL B-CELL LYMPHOCYTOSIS
B-CELL PROLYMPHOCYTIC LEUKEMIA
HAIRY CELL LEUKEMIA
HAIRY CELL LEUKEMIA VARIANT
SPLENIC MARGINAL ZONE LYMPHOMA AND OTHER RARE SPLENIC LYMPHOMAS
LYMPHOPLASMACYTIC LYMPHOMA
FOLLICULAR LYMPHOMA
MANTLE CELL LYMPHOMA
BURKITT LYMPHOMA AND LARGE B-CELL LYMPHOMAS
PLASMA CELL LEUKEMIA
REFERENCES
11 -
Hodgkin Lymphoma
GENERAL OVERVIEW AND INCIDENCE
Epidemiology
Etiology
Clinical Features
Diagnostic Studies
NODULAR SCLEROSIS CLASSIC HODGKIN LYMPHOMA
MIXED CELLULARITY CLASSIC HODGKIN LYMPHOMA
LYMPHOCYTE-RICH CLASSIC HODGKIN LYMPHOMA
LYMPHOCYTE-DEPLETED CLASSIC HODGKIN LYMPHOMA
GENETICS OF CLASSIC HODGKIN LYMPHOMA
NODULAR LYMPHOCYTE-PREDOMINANT HODGKIN LYMPHOMA
GENETICS OF NODULAR LYMPHOCYTE-PREDOMINANT HODGKIN LYMPHOMA1
REFERENCES
12 - Indolent and Aggressive B-Cell Lymphoma
INTRODUCTION
Follicular Lymphoma
In Situ Follicular Neoplasia
Pediatric-Type Follicular Lymphoma
12
Primary Cutaneous Follicle Center Lymphoma
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Mantle Cell Lymphoma
Marginal Zone Lymphoma
Small B-Cell Lymphomas With Splenic Involvement
Lymphoplasmacytic Lymphoma
AGGRESSIVE B-CELL NEOPLASMS
Burkitt Lymphoma
Burkitt-Like Lymphoma With 11q Aberration
High-Grade B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
Primary Mediastinal Large B-Cell Lymphoma
Gray Zone Lymphoma
T-Cell/Histiocyte-Rich Large B-Cell Lymphoma
Large B-Cell Lymphoma With IRF4 Rearrangement
Anaplastic Lymphoma Kinase–Positive Large B-Cell Lymphoma
EBV-Positive DLBCL, Not Otherwise Specified
Plasmablastic Lymphoma
Lymphomatoid Granulomatosis
Intravascular Large B-Cell Lymphoma
Fibrin-Associated Diffuse Large B-Cell Lymphoma
Primary Effusion Lymphoma
REFERENCES
13 -
Indolent and Aggressive Mature T-Cell and Natural Killer–Cell Lymphomas
Overview and Incidence
Etiology and Histopathology
Clinical Features
Diagnostic Studies
Current Clinical and Radiologic Staging
T-Cell Large Granular Lymphocytic Leukemia
Overview and Incidence
Etiology and Histopathology
Clinical Course
13
Diagnostic Studies
Current Clinical and Radiologic Staging
Aggressive Natural Killer–Cell Leukemia
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
Chronic Lymphoproliferative Disorder of Natural Killer Cells
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
Adult T-Cell Leukemia/Lymphoma (ATLL)
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
CUTANEOUS T-CELL LYMPHOMAS WITH SIGNIFICANT LEUKEMIC INVOLVEMENT
Mycosis Fungoides and Sézary Syndrome
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
Hepatosplenic T-Cell Lymphoma
Overview and Incidence
Etiology and Histopathology
Clinical Features
Diagnostic Studies
Current Clinical and Radiologic Staging
Systemic EBV+ T-Cell Lymphoma of Childhood
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
Chronic Active EBV Infection of T- and NK-Cell Type, Systemic Form
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
NODAL-BASED T-CELL LYMPHOMAS
Peripheral T-Cell Lymphoma, Not Otherwise Specified
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
Angioimmunoblastic T-Cell Lymphoma and Other Nodal Lymphomas of T-Follicular Helper Cell Origin
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
Anaplastic Large Cell Lymphoma, Anaplastic Lymphoma Kinase–Positive
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
Anaplastic Large Cell Lymphoma, Anaplastic Lymphoma Kinase–Negative
Overview and Incidence
Etiology and Histopathology
Clinical Course
Diagnostic Studies
Current Clinical and Radiologic Staging
PREDOMINANTLY EXTRANODAL (NONCUTANEOUS) T- AND NATURAL KILLER–CELL LYMPHOMAS WITHOUT SIGNIFICANT LEUKEMIC INVOLVEMENT
Extranodal Natural Kill–/T-Cell Lymphoma, Nasal Type
INTESTINAL T-CELL LYMPHOMA
Introduction
Enteropathy Associated T-Cell Lymphoma
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma (MEITL)
Indolent T-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Breast Implant–Associated Anaplastic Large Cell Lymphoma
Hydroa Vacciniforme–Like Lymphoproliferative Disorder
Severe Mosquito Bite Allergy
CUTANEOUS T-CELL LYMPHOMAS WITHOUT SIGNIFICANT LEUKEMIC INVOLVEMENT
Primary Cutaneous CD30+ T-Cell Lymphoma
Anaplastic Large Cell Lymphoma, Primary Cutaneous
Lymphomatoid Papulosis
Primary Cutaneous Peripheral T-Cell Lymphomas, Rare Subtypes
Primary Cutaneous γ/δ T-Cell Lymphoma
Primary Cutaneous CD8+ Aggressive Epidermotropic Cytotoxic T-Cell Lymphoma
Primary Cutaneous Acral CD8+ T-Cell Lymphoma
Primary CD4+ Small/Medium T-Cell Lymphoproliferative Disorder
REFERENCES
14 -
Myeloma and Related Conditions
GENERAL OVERVIEW AND INCIDENCE
ETIOLOGY AND HISTOPATHOLOGY
Immunophenotypic Characteristics of Plasma Cell Neoplasm
CLINICAL MANIFESTATIONS
Anemia
Bone Disease
Renal Failure
Hypercalcemia
Neurologic Symptoms
Hyperviscosity
Infections
Amyloidosis
Laboratory Manifestations
Investigations to Detect Clonality
Protein Electrophoresis
Serum-Free Light Chain
Investigations for End-Organ Damage
Radiographic Evaluation
Renal Function
Hemogram and Serum Calcium
CLINICAL AND PATHOLOGIC STAGING
Cytogenetic and Molecular Features in Multiple Myeloma
Future Directions
REFERENCES
15 -
Childhood Hematopoietic Disorders
GENERAL OVERVIEW AND INCIDENCE
ETIOLOGY
CLINICAL PRESENTATION
LABORATORY MANIFESTATIONS
PEDIATRIC PATHOLOGIC DISEASE ENTITY EXAMPLES
REFERENCE
16 -
POSTTRANSPLANT LYMPHOPROLIFERATIVE DISORDERS AND IMMUNODEFICIENCY
GENERAL OVERVIEW AND INCIDENCE
Etiology/Histopathology
CLINICAL PRESENTATION
LABORATORY MANIFESTATIONS
DIAGNOSTIC/PATHOLOGIC ENTITY AND CASE EXAMPLES
CYTOGENETIC FEATURES
MOLECULAR GENETIC FEATURES
REFERENCE
17 -
Infectious Processes in Blood and Bone Marrow
VIRAL INFECTIONS
BACTERIAL INFECTIONS
FUNGAL INFECTIONS
PARASITIC INFECTIONS
DIFFERENTIAL DIAGNOSIS
REFERENCES
18 -
Hemophilia
GENERAL OVERVIEW AND INCIDENCE
Overview of Hemophilia
Coagulation
Roles of Factors VIII and IX in Coagulation
INCIDENCE AND INHERITANCE
Incidence
Inheritance
ETIOLOGY AND HISTOPATHOLOGY
Factor Level Determines Bleeding Phenotype
Molecular Basis of Hemophilia A and B
Common Mutations
Inversion
Inhibitors in Hemophilia
Incidence and Etiology
Molecular Basis
. The majority of mutations associated with inhibitors in both hemophilia A and B are missense mutations resulting in truncated ...
Immunology
Acquired FVIII Deficiency
CLINICAL FEATURES
Bleeding Phenotypes
Bleeding Emergencies
Joint Disease Progression
Surgery in Hemophilia
Hepatitis and Human Immunodeficiency Virus
DIAGNOSTIC STUDIES
Physical Examination
Laboratory Analysis
Factor Assays
Inhibitor Assays
Imaging
Current Clinical and Pathologic Staging
OTHER FACTOR DEFICIENCIES
von Willebrand Disease
Bleeding Phenotypes
Laboratory Analysis
REFERENCES
19 -
Transfusion Medicine and Cellular Therapy
BLOOD COLLECTION
BLOOD COMPONENTS
APHERESIS
PEDIATRIC UNITS
LEUKOREDUCTION
IRRADIATION
BLOOD STORAGE
INFECTIOUS DISEASE MARKER TESTING
BLOOD GROUP ANTIGENS
BLOOD GROUP ANTIGENS AND THEIR CLINICAL SIGNIFICANCE
IMMUNOHEMATOLOGY
PRETRANSFUSION TESTING
Sample Collection
ABO Typing
Red Cell Antibody Identification
HEMOLYTIC DISEASE OF THE FETUS/NEWBORN
Prophylaxis Against D Alloimmunization
BLOOD COMPONENT THERAPY
PLATELET REFRACTORINESS
ADVERSE EFFECTS OF TRANSFUSION
Bacterial Contamination
Transfusion-Associated Graft-Versus-Host Disease
Hemoglobinuria and Hemoglobinemia
Transfusion-Related Acute Lung Injury
Transfusion Transmission of Parasites
THERAPEUTIC APHERESIS
Peripheral Blood Stem Cell Collection
Thrombotic Thrombocytopenic Purpura
CELLULAR THERAPY
Bone Marrow
Peripheral Blood Stem Cells
Cord Blood
CD34 Selection
Extracorporeal Photopheresis
REFERENCES
INDEX
A
B
C
D
E
F
G
H
I
J
K
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M
N
O
P
R
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T
U
V
W
X
IBC