This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Covering the full range of nonneoplastic and neoplastic conditions of blood and bone marrow, it incorporates the most recent scientific and technical knowledge in the field to provide a comprehensive overview of all key issues relevant to todays practice. Richly illustrated and easy to use, the third edition of Diagnostic Pathology:: Blood and Bone Marrow is a visually stunning, one-stop resource for every practicing pathologist, hematopathologist, oncologist, hematologist, resident, student, or fellow as an ideal day-to-day reference or as a reliable training resource.
SECTION 1: INTRODUCTION 4 Hematopoiesis and Bone Marrow Histology Kathryn Foucar, MD 14 Bone Marrow Examination and Techniques Kathryn Foucar, MD and Kaaren K. Reichard, MD 26 Synoptic/Integrated Bone Marrow Reporting and Algorithmic Testing Amer Mahmoud, MD, FCAP and Cordelia Sever, MD, FCAP 30 Overview of Constitutional and Acquired Bone Marrow Disorders Kathryn Foucar, MD
SECTION 2: ANEMIA
38 Overview of Anemia Kathryn Foucar, MD
ACQUIRED ANEMIAS 44 Anemias of Inflammation, Chronic Kidney Disease, and Cancer Qian-Yun Zhang, MD, PhD 48 Iron Deficiency Anemia Qian-Yun Zhang, MD, PhD 52 Autoimmune Hemolytic Anemias Qian-Yun Zhang, MD, PhD 58 Alloimmune Hemolytic Anemia and Hemolytic Disease of Newborn Qian-Yun Zhang, MD, PhD 62 Microangiopathic Hemolytic Anemia Qian-Yun Zhang, MD, PhD, Jay S. Raval, MD, and Marian Rollins-Raval, MD, MPH 68 Megaloblastic Anemia Kristin Hunt Karner, MD and Daniel Babu, MD 76 Acquired Nonneoplastic Sideroblastic Anemia Brittany Coffman, MD and Kaaren K. Reichard, MD 80 Alcoholism-Associated Anemia Brittany Coffman, MD, Kathryn Foucar, MD, and Kaaren K. Reichard, MD 84 Anemia in Older Adults Kathryn Foucar, MD 88 Copper Deficiency-Associated Anemia Carla S. Wilson, MD, PhD 92 Acquired Red Cell Aplasia Kristin Hunt Karner, MD 96 Transient Erythroblastopenia of Childhood Kathryn Foucar, MD 98 Parvovirus-Induced Red Cell Aplasia Kristin Hunt Karner, MD 102 Paroxysmal Nocturnal Hemoglobinuria Kristin Hunt Karner, MD 108 Acquired Aplastic Anemia Kathryn Foucar, MD and David R. Czuchlewski, MD
CONSTITUTIONAL ANEMIAS
112 Thalassemia Kristin Hunt Karner, MD 118 Sickle Cell Anemia Kristin Hunt Karner, MD 122 Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Brittany Coffman, MD and Kathryn Foucar, MD 124 Pyruvate Kinase Deficiency Kristin Hunt Karner, MD 126 Hereditary Spherocytosis Carla S. Wilson, MD, PhD 132 Hereditary Elliptocytosis, Including Hereditary Pyropoikilocytosis Brittany Coffman, MD, Kathryn Foucar, MD, and Kaaren K. Reichard, MD 136 Diamond-Blackfan Anemia David R. Czuchlewski, MD 140 Fanconi Anemia David R. Czuchlewski, MD 144 Congenital Dyserythropoietic Anemia Kathryn Foucar, MD 150 Congenital Sideroblastic Anemia David R. Czuchlewski, MD 154 Congenital Megaloblastic Anemia David R. Czuchlewski, MD
SECTION 3: ERYTHROCYTOSIS
CONSTITUTIONAL
162 Congenital Erythrocytosis David R. Czuchlewski, MD
SECTION 4: BENIGN LEUKOCYTE DISORDERS IN BLOOD AND BONE MARROW
172 Overview of Benign Leukocyte Disorders in Blood and Bone Marrow Kathryn Foucar, MD 176 Pancytopenia Kathryn Foucar, MD 184 Neutropenia Kathryn Foucar, MD 190 Neutrophilia Kathryn Foucar, MD 196 Monocytosis Carla S. Wilson, MD, PhD 202 Eosinophilia Carla S. Wilson, MD, PhD 210 Basophilia Kathryn Foucar, MD 212 Lymphocytosis Qian-Yun Zhang, MD, PhD 216 Lymphopenia, Constitutional and Acquired Qian-Yun Zhang, MD, PhD 220 Plasmacytosis of Bone Marrow Kathryn Foucar, MD 228 Hematogones in Bone Marrow Devon Chabot-Richards, MD and Kaaren K. Reichard, MD 238 Lymphoid Aggregates in Bone Marrow Kathryn Foucar, MD and Kaaren K. Reichard, MD 246 Granulomas in Bone Marrow Kathryn Foucar, MD
SECTION 5: CONSTITUTIONAL GRANULOCYTIC DISORDERS
CONSTITUTIONAL NEUTROPENIAS
254 Severe Congenital Neutropenia and Cyclic Neutropenia David R. Czuchlewski, MD 258 Shwachman-Diamond Syndrome David R. Czuchlewski, MD 262 Chediak-Higashi Syndrome David R. Czuchlewski, MD 266 Myelokathexis in WHIM Syndrome Kathryn Foucar, MD
CONSTITUTIONAL NEUTROPHIL ANOMALIES
270 Pelger-Huët Anomaly Kathryn Foucar, MD 274 MYH9-Related Disorders David R. Czuchlewski, MD 278 Selected Lysosomal Storage Diseases With Abnormal Leukocyte Granulation David R. Czuchlewski, MD
SECTION 6: MEGAKARYOCYTIC DISORDERS
286 Overview of Megakaryocytic Disorders Kathryn Foucar, MD, Marian Rollins-Raval, MD, MPH, and Kaaren K. Reichard, MD
ACQUIRED PLATELET DISORDERS WITH THROMBOCYTOPENIA
296 Immune-Mediated Thrombocytopenia Kristin Hunt Karner, MD 302 Hemolytic Uremic Syndrome Kristin Hunt Karner, MD 308 Heparin-Induced Thrombocytopenia (HIT) Marian Rollins-Raval, MD, MPH and Evelyn L. Lockhart, MD, MScBMC 312 Thrombotic Thrombocytopenic Purpura Kristin Hunt Karner, MD, Jay S. Raval, MD, and Marian Rollins-Raval, MD, MPH 316 Pregnancy-Associated Thrombocytopenia Kathryn Foucar, MD, Marian Rollins-Raval, MD, MPH, and Evelyn L. Lockhart, MD, MScBMC
CONSTITUTIONAL PLATELET DISORDERS WITH THROMBOCYTOPENIA
320 Thrombocytopenia Absent Radius Syndrome David R. Czuchlewski, MD 324 Congenital Amegakaryocytic Thrombocytopenia David R. Czuchlewski, MD 328 Gray Platelet Syndrome David R. Czuchlewski, MD 332 Wiskott-Aldrich Syndrome-Related Disorders David R. Czuchlewski, MD 336 Congenital Thrombotic Thrombocytopenic Purpura David R. Czuchlewski, MD
THROMBOCYTOSIS
340 Thrombocytosis Kristin Hunt Karner, MD
SECTION 7: INFECTIONS
346 Overview of Infections Carla S. Wilson, MD, PhD and Karissa Culbreath, PhD, D(ABMM) 350 Hantavirus Pulmonary Syndrome Carla S. Wilson, MD, PhD 354 Human Immunodeficiency Virus Karissa Culbreath, PhD, D(ABMM) and Carla S. Wilson, MD, PhD 364 Infectious Mononucleosis Syndromes (Epstein-Barr Virus, Cytomegalovirus) Karissa Culbreath, PhD, D(ABMM) and Carla S. Wilson, MD, PhD 374 Parvovirus B19 Infection Carla S. Wilson, MD, PhD 378 Bacterial Infections, Blood and Bone Marrow Features Karissa Culbreath, PhD, D(ABMM) and Carla S. Wilson, MD, PhD 388 Fungal Infections, Blood and Bone Marrow Features Mohammad A. Vasef, MD 394 Helminthic Infections Carla S. Wilson, MD, PhD and Karissa Culbreath, PhD, D(ABMM) 398 Malaria Carla S. Wilson, MD, PhD 406 Other Protozoan Infections Karissa Culbreath, PhD, D(ABMM), Kathryn Foucar, MD, and Carla S. Wilson, MD, PhD 412 COVID-19 Infection (SARS-CoV-2) Daniel Babu, MD, Kathryn Foucar, MD, and Karissa Culbreath, PhD, D(ABMM)
SECTION 8: MISCELLANEOUS NONNEOPLASTIC DISORDERS AND CONDITIONS
418 Overview and Classification of Hemophagocytic Disorders in Bone Marrow Mohammad A. Vasef, MD 426 Hematologic Manifestations of Collagen Vascular Disorders Kristin Hunt Karner, MD 432 Hematologic Manifestations of Chronic Kidney Disease Kathryn Foucar, MD 434 Lysosomal Storage Diseases With Predominantly Histiocytic Storage David R. Czuchlewski, MD 440 Homeopathic Remedies and Medications Affecting Blood and Bone Marrow Morphology Brittany Coffman, MD and Kathryn Foucar, MD 444 Other Pregnancy-Associated Hematologic Disorders Kathryn Foucar, MD 448 VEXAS Syndrome Brittany Coffman, MD and Kathryn Foucar, MD 452 Gelatinous Transformation and Other Bone Marrow Stromal Disorders Carla S. Wilson, MD, PhD 456 Bone Marrow Necrosis Kathryn Foucar, MD 460 Crystals in Bone Marrow Carla S. Wilson, MD, PhD 466 Bone Abnormalities in Bone Marrow Specimens Kathryn Foucar, MD
SECTION 9: MYELOID NEOPLASMS
476 Overview and Classification of Myeloid Neoplasms Kathryn Foucar, MD 482 Specialized Testing in Myeloid Neoplasms David R. Czuchlewski, MD
MYELOPROLIFERATIVE NEOPLASMS
484 Overview of Myeloproliferative Neoplasms Kathryn Foucar, MD 488 Chronic Myeloid Leukemia Daniel Babu, MD, Kathryn Foucar, MD, and Kaaren K. Reichard, MD 498 Chronic Neutrophilic Leukemia Kathryn Foucar, MD, Devon Chabot-Richards, MD, and Kaaren K. Reichard, MD 506 Polycythemia Vera Mohammad A. Vasef, MD and M. Carmen Frias Kletecka, MD 512 Primary Myelofibrosis Kathryn Foucar, MD, Daniel Babu, MD, and Kaaren K. Reichard, MD 522 Essential Thrombocythemia Kathryn Foucar, MD, Daniel Babu, MD, and Kaaren K. Reichard, MD 530 Chronic Eosinophilic Leukemia, Not Otherwise Specified Kathryn Foucar, MD and Kaaren K. Reichard, MD 538 Myeloproliferative Neoplasm, Unclassifiable Kathryn Foucar, MD and Kaaren K. Reichard, MD
MASTOCYTOSIS
544 Systemic Mastocytosis Marian Rollins-Raval, MD, MPH and Kaaren K. Reichard, MD 554 Mast Cell Leukemia Marian Rollins-Raval, MD, MPH, Kathryn Foucar, MD, and Kaaren K. Reichard, MD
MYELOID/LYMPHOID NEOPLASMS WITH EOSINOPHILIA AND TYROSINE KINASE GENE FUSIONS
562 Myeloid/Lymphoid Neoplasms With Eosinophilia and PDGFRA David R. Czuchlewski, MD 564 Myeloid/Lymphoid Neoplasms With Eosinophilia and PDGFRB David R. Czuchlewski, MD 566 Myeloid/Lymphoid Neoplasms With Eosinophilia and FGFR1 David R. Czuchlewski, MD 568 Myeloid/Lymphoid Neoplasms With Eosinophilia and FLT3 and Other Uncommon Fusion Genes Kathryn Foucar, MD and Brittany Coffman, MD
MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASMS
570 Overview of Myelodysplastic/Myeloproliferative Neoplasms Kathryn Foucar, MD 574 Chronic Myelomonocytic Leukemia and Precursor Lesions David R. Czuchlewski, MD 578 Atypical Chronic Myeloid Leukemia Qian-Yun Zhang, MD, PhD 582 Myelodysplastic/Myeloproliferative Neoplasm With and Without SF3B1 Mutation and Thrombocytosis Devon Chabot-Richards, MD 586 Myelodysplastic/Myeloproliferative Neoplasms, Not Otherwise Specified, and Provisional Entity Kathryn Foucar, MD
MYELODYSPLASTIC SYNDROMES
588 Overview and Classification of Myelodysplastic Syndromes Kathryn Foucar, MD 598 Myelodysplastic Syndrome Precursor Lesions Devon Chabot-Richards, MD 600 Myelodysplastic Syndromes With Mutated SF3B1 Carla S. Wilson, MD, PhD 604 Myelodysplastic Syndrome With del(5q) Marian Rollins-Raval, MD, MPH and Kaaren K. Reichard, MD 612 Myelodysplastic Syndrome With Multihit TP53 Mutation Devon Chabot-Richards, MD 614 Myelodysplastic Syndromes, Not Otherwise Specified Carla S. Wilson, MD, PhD 620 Myelodysplastic Syndromes With Excess Blasts Carla S. Wilson, MD, PhD 624 Myelodysplastic Syndrome/Acute Myeloid Leukemia Kathryn Foucar, MD 628 Mimics of Myelodysplasia Qian-Yun Zhang, MD, PhD and Brittany Coffman, MD
HEMATOLOGIC NEOPLASMS WITH GERMLINE PREDISPOSITION, PEDIATRIC MYELODYSPLASTIC SYNDROME, AND JUVENILE MYELOMONOCYTIC LEUKEMIA
632 Juvenile Myelomonocytic Leukemia and Similar Neoplasms Devon Chabot-Richards, MD and Qian-Yun Zhang, MD, PhD 636 Pediatric Myelodysplastic Syndrome (Refractory Cytopenia of Childhood) Carla S. Wilson, MD, PhD 642 Hematologic Neoplasms With Germline Predisposition David R. Czuchlewski, MD 644 Myeloid Proliferations Related to Down Syndrome David R. Czuchlewski, MD
ACUTE MYELOID LEUKEMIA
648 Overview of Acute Myeloid Leukemia Kathryn Foucar, MD and Kaaren K. Reichard, MD 656 Acute Promyelocytic Leukemia With t(15;17)(q24.1;q21.2)/PML::RARA Mohammad A. Vasef, MD and Kathryn Foucar, MD 662 Acute Promyelocytic Leukemia With Other RARA Rearrangements Devon Chabot-Richards, MD and Kathryn Foucar, MD 664 Acute Myeloid Leukemia With t(8;21)(q22;q22.1)/RUNX1::RUNX1T1 Daniel Babu, MD, Devon Chabot-Richards, MD, and Kaaren K. Reichard, MD 674 Acute Myeloid Leukemia With inv(16)(p13.1q22) or t(16;16)(p13.1;q22)/CBFB::MYH11 Daniel Babu, MD, Devon Chabot-Richards, MD, and Kaaren K. Reichard, MD 682 Acute Myeloid Leukemia With t(9;11)(p21.3;q23.3)/MLLT3::KMT2A and Other KMT2A Rearrangements Devon Chabot-Richards, MD, Daniel Babu, MD, and Kaaren K. Reichard, MD 690 Acute Myeloid Leukemia With Mutated TP53 Kristin Hunt Karner, MD and Kathryn Foucar, MD 694 Acute Myeloid Leukemia With Uncommon Cytogenetic Abnormalities David R. Czuchlewski, MD 698 Acute Myeloid Leukemia With Myelodysplasia-Related Gene Mutations or Cytogenetic Abnormalities Kathryn Foucar, MD 704 Acute Myeloid Leukemia, Not Otherwise Specified Qian-Yun Zhang, MD, PhD and Kathryn Foucar, MD 708 Acute Leukemia of Ambiguous Lineage Marian Rollins-Raval, MD, MPH, Kathryn Foucar, MD, and Kaaren K. Reichard, MD 714 Measurable Residual Disease Testing Strategies in Acute Myeloid Leukemia Brittany Coffman, MD and Kathryn Foucar, MD
BLASTIC PLASMACYTOID DENDRITIC CELL NEOPLASM
718 Blastic Plasmacytoid Dendritic Cell Neoplasm Devon Chabot-Richards, MD and Kaaren K. Reichard, MD
SECTION 10: LYMPHOID NEOPLASMS
728 Overview of Lymphoid Neoplasms Kathryn Foucar, MD 734 Specialized Testing in Lymphoid Neoplasms Brittany Coffman, MD and Devon Chabot-Richards, MD
B-PRECURSOR NEOPLASMS
738 B-Acute Lymphoblastic Leukemias: Cytogenetic Subtypes and Not Otherwise Specified (ICC) Qian-Yun Zhang, MD, PhD 746 B-Acute Lymphoblastic Leukemia, BCR::ABL1-Like Joanna L. Conant, MD, Devon Chabot-Richards, MD, and Mohammad A. Vasef, MD 750 Novel Genetic Subtypes of B-Acute Lymphoblastic Leukemia Devon Chabot-Richards, MD 754 Measurable Residual Disease Testing Strategies in Acute Lymphoblastic Leukemia David R. Czuchlewski, MD
T-PRECURSOR NEOPLASMS
756 T- and NK-Cell Acute Lymphoblastic Leukemia (ICC) Mohammad A. Vasef, MD 762 Early T-Cell Precursor Acute Lymphoblastic Leukemia David R. Czuchlewski, MD
MATURE B-CELL NEOPLASMS
764 Overview and Classification of Mature B-Cell Leukemias, Immunosecretory Neoplasms Kathryn Foucar, MD and Kaaren K. Reichard, MD 772 Monoclonal B-Cell Lymphocytosis Devon Chabot-Richards, MD 776 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Kathryn Foucar, MD 786 B-Cell Prolymphocytic Leukemia Kathryn Foucar, MD 788 Splenic Marginal Zone Lymphoma Qian-Yun Zhang, MD, PhD 794 Hairy Cell Leukemia Kathryn Foucar, MD 804 Splenic B-Cell Leukemia, Hairy Cell Leukemia Variant Kathryn Foucar, MD 806 Lymphoplasmacytic Lymphoma Qian-Yun Zhang, MD, PhD 812 ?-Heavy Chain Disease Kathryn Foucar, MD 816 Monoclonal Gammopathy Carla S. Wilson, MD, PhD 822 Multiple Myeloma Carla S. Wilson, MD, PhD 834 Burkitt Lymphoma Qian-Yun Zhang, MD, PhD 842 Mantle Cell Lymphoma in Blood and Bone Marrow Devon Chabot-Richards, MD 846 Follicular Lymphoma in Blood and Bone Marrow Qian-Yun Zhang, MD, PhD 850 Marginal Zone Lymphoma in Blood and Bone Marrow Devon Chabot-Richards, MD 854 Intravascular Large B-Cell Lymphoma Mohammad A. Vasef, MD 858 Other Large B-Cell Lymphomas in Blood and Bone Marrow Mohammad A. Vasef, MD
MATURE T-/NK-CELL NEOPLASMS
860 Overview and Classification of Mature T-/NK-Cell Neoplasms in Blood and Bone Marrow Kathryn Foucar, MD 864 T-Cell Prolymphocytic Leukemia Kathryn Foucar, MD 870 T-Cell Large Granular Lymphocytic Leukemia Kathryn Foucar, MD 876 Chronic Lymphoproliferative Disorder of NK Cells Kathryn Foucar, MD 878 Aggressive NK-Cell Leukemia Kathryn Foucar, MD 882 Adult T-Cell Leukemia Kathryn Foucar, MD 884 Sézary Syndrome Kathryn Foucar, MD 890 Anaplastic Large Cell Lymphoma in Blood and Bone Marrow Mohammad A. Vasef, MD 896 Angioimmunoblastic T-Cell Lymphoma in Blood and Bone Marrow Mohammad A. Vasef, MD 898 Other Mature T-Cell Lymphomas Involving Blood and Bone Marrow Mohammad A. Vasef, MD
HODGKIN LYMPHOMA IN BONE MARROW
902 Classic Hodgkin and Nodular Lymphocyte-Predominant B-Cell Lymphomas in Bone Marrow Mohammad A. Vasef, MD
SECTION 11: OTHER NEOPLASMS INVOLVING BONE MARROW
910 Langerhans Cell Histiocytosis in Bone Marrow Mohammad A. Vasef, MD 914 Posttransplant Lymphoproliferative Disorders in Bone Marrow Mohammad A. Vasef, MD 920 Metastatic Carcinoma and Sarcoma Mohammad A. Vasef, MD
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