The Structure of DNA and Chromosomes

Nucleotides

Polynucleotides (Single-Stranded Nucleotide Chains, Single-Stranded DNA or RNA)

Double-Stranded Nucleotide Chains (Double-Stranded DNA or DNA:RNA Double Strands)

Nucleic Acid Nomenclature

Chromosomes

DNA Replication and Cell Division

The Cell Cycle

DNA Replication

Gene Structure, Gene Expression, and Control of Gene Expression

Gene Structure

Transcription

Translation

Control of Gene Expression

Genetic Anomalies: Acquisition

Inherited Defects T1.3

Acquired Defects

Autosomal Dominant (AD)

Autosomal Recessive (AR)

X-Linked Recessive (XLR)

Structural and Numerical Chromosomal Disorders (Chapter 2)

Microdeletion (Contiguous Gene) Syndromes (Chapter 2)

Multifactorial Inheritance

Mitochondrial (Maternal) Inheritance (Chapter 10)

Genomic Imprinting

Trinucleotide Repeat Disorders

Genetic Anomalies: Types

Mutations

Structural or Numerical Chromosomal Anomalies

Molecular Diagnostic Methods

Cytogenetics

Fluorescence In Situ Hybridization

Derivatives of FISH

Polymerase Chain Reaction

Derivatives of PCR

Direct Sequence Analysis (DNA Sequencing)

Southern Blot Analysis (SBA)

Variable Number Tandem Repeats (VNTR)

Mutation Scanning

DNA Microarrays (Gene Expression Profiling)

Proteomics

Loss of Heterozygosity (LOH)

Methylation Assays

Applications

Clinical Diagnosis

Neonatal Screening

Prenatal Diagnosis

Carrier Testing

HLA Typing

Definitions and Nomenclature

Numerical Disorders T2.2

Spontaneous Abortus

Down Syndrome (Trisomy 21)

Edward Syndrome (Trisomy 18)

Patau Syndrome (Trisomy 13)

Turner Syndrome (Monosomy X; 45, X)

Klinefelter Syndrome (47, XXY)

Deletions and Microdeletions (Contiguous Gene Syndromes) T2.4

Wolf-Hirschhorn Syndrome (4p–)

Cri-du-Chat Syndrome (5p–)

Angelman Syndrome and Prader-Willi Syndrome (15q–)

Smith-Magenis Syndrome (17p–)

Y Chromosome Microdeletion (YCMD) Syndrome

Trinucleotide Repeat Disorders T2.6

Fragile X Syndrome (FRAXA)

Friedreich Ataxia

Short Stature, Idiopathic Short Stature, and Dwarfism: Summary and Approach

Achondroplasia

Hypochondroplasia

Thanatophoric Dysplasia

Hemophilia Caused by Inherited Platelet Defects

Bernard-Soulier Syndrome (BSS)

Platelet Dense Granule Disorders (Hermansky-Pudlak, Chédiak-Higashi, Wiskott-Aldrich Syndromes)

Platelet α Granule Disorders (Gray Platelet Syndrome, White Platelet Syndrome, and Quebec Platelet Syndrome)

Glanzmann Thrombasthenia

Inherited Thrombocytopenia

Familial Thrombotic Thrombocytopenia Purpura (TTP)

Hemophilia Caused by Coagulation Defects

von Willebrand Disease

Hemophilia A (Factor VIII Deficiency)

Hemophilia B (Factor IX Deficiency, Christmas Disease)

Factor VII Deficiency

Factor V Deficiency

Factor X Deficiency

Factor XI Deficiency

Prothrombin Deficiency

Factor XIII Deficiency

Inherited Combined Factor Deficiency T3.7

Fibrinogen Deficiency (Afibrinogenemia, Hypofibrinogenemia, and Dysfibrinogenemia)

Thrombophilia Caused by Platelet Disorders

Thrombocytosis

Wien-Penzing Defect

Sticky Platelet Syndrome (SPS)

Platelet Glycoprotein Polymorphisms

Thrombophilia Caused by Coagulation Disorders

Activated Protein C Resistance (Factor V Leiden)

Prothrombin Variant (Prothrombin G20210A Mutation)

Hyperhomocysteinemia

Antithrombin Deficiency (Antithrombin III Deficiency)

Heparin Cofactor II (HCII) Deficiency

Protein C Deficiency and Protein S Deficiency

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Elevated Plasminogen Activator Inhibitor Type 1 (PAI-1 Gene Polymorphisms)

Factor XII (Hagemann Factor) Deficiency

Red Blood Cell Cytoskeletal Disorders

Hereditary Spherocytosis (HS)

Hereditary Elliptocytosis (HE)/Hereditary Ovalocytosis

Hereditary Stomatocytosis

Red Blood Cell Enzyme Disorders

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

Pyruvate Kinase (PK) Deficiency

Pyrimidine 5′ Nucleotidase Deficiency

Hemoglobin Disorders

Hemoglobin S

Hemoglobin C (β6glu→lys)

Hemoglobin E (β26glu→lys)

Hemoglobin D & G

Hemoglobin Lepore

Hemoglobin Constant Spring (CS)

Altered Oxygen Affinity Hemoglobins

Unstable Hemoglobins

Methemoglobin (Hi, Hemiglobin)

β Thalassemia

α Thalassemia

α-Thalassemia/Mental Retardation Syndrome

Hereditary Persistence of Fetal Hemoglobin

Disorders of Hematopoietic Cell Proliferation and Maturation

Pure Red Cell Aplasia (PRCA)/Blackfan-Diamond Syndrome

Fanconi Anemia

Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome)

Congenital Dyserythropoietic Anemia (CDA)

Congenital Sideroblastic Anemia

Paroxysmal Nocturnal Hemoglobinuria

Congenital Amegakaryocytic Thrombocytopenia (CAMT)

Thrombocytopenia with Absent Radii (TAR) Syndrome

Pearson Syndrome

Isolated Neutropenia

Inherited Nephritic Syndromes (Collagen IV-Related Nephropathies)

Alport Syndrome

Benign Familial Hematuria (Thin Basement Membrane Disease)

Inherited Nephrotic Syndromes

Congenital Nephrotic Syndrome of the Finnish Type

Pierson Syndrome

Nail-Patella Syndrome

Denys-Drash Syndrome

Familial Autosomal Dominant Focal Segmental Glomerulosclerosis

Familial Autosomal Recessive Corticosteroid-Resistant Nephrotic Syndrome

Inherited Tubular Disorders

Renal Fanconi Syndrome

Autoimmune Renal Disease

Goodpasture Syndrome

Polycystic Kidney Diseases T5.3

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Glomerulocystic Kidney Disease (GCKD)

Cystic Renal Dysplasia (Multicystic Dysplastic Kidney)

Nephronophthisis (Juvenile Nephronophthisis, Medullary Sponge Kidney)

Meckel-Gruber Syndrome

Potter Sequence

Bilateral Renal Agenesis

Prune Belly Syndrome (Eagle-Barrett Syndrome)

Posterior Urethral Valves

Cardiac Conduction Disorders (Cardiac Channelopathies)

Brugada Syndrome

Arrhythmogenic Right Ventricular Dysplasia (ARVD, Uhl Anomaly)

The Long QT Syndromes (LQTS)

Catecholamine-Induced Polymorphic Ventricular Tachycardia (CPVT)

Myocardial Disorders T6.2

Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy (Idiopathic Hypertrophic Subaortic Stenosis)

Restrictive Cardiomyopathy

Familial Cardiac Amyloidosis (Transthyretin Amyloidosis, Familial Amyloid Polyneuropathy)

Skeletal Muscle Disorders

Coronary Artery Disorders

Endothelial Nitric Oxide Synthase (eNOS) Deficiency

Inherited Conditions that Promote Atherosclerosis

Inherited Conditions that Promote Thrombosis

Structural Disorders

Single-Gene Disorders Resulting in Structural Cardiac Defects

Chromosomal Disorders Associated with Structural Cardiac Anomalies

Multifactorial Structural Cardiac Disorders

Steroid Hormones

Congenital Adrenal Hyperplasia (CAH)

Adrenoleukodystrophy

Androgen Insensitivity Syndrome (Testicular Feminization)

Steroid Sulfatase Deficiency (X-Linked Ichthyosis)

Hermaphroditism and Pseudohermaphroditism

Pituitary

Multiple Pituitary Hormone Deficiency/Pituitary Hypoplasia and Aplasia

Kallmann Syndrome

Isolated Growth Hormone (GH) Deficiency

Ataxia-Telangiectasia (A–T)

Parathyroid

Inherited Hypoparathyroidism

Albright Hereditary Osteodystrophy (Pseudohypoparathyroidism Type IA)

McCune-Albright Syndrome

Familial Hypocalciuric Hypercalcemia

Thyroid Hormones

Congenital Hypothyroidism

Autoimmune Thyroid Disease and Polyglandular Syndrome

Diabetes Mellitus

Type-1 Diabetes Mellitus (DM; Insulin-Dependent DM)

Type-2 Diabetes Mellitus

Monogenetic Causes of DM

Gastrointestinal Tract

Hirschsprung Disease

Esophageal Atresia

Pyloric Stenosis

Intestinal Atresia

Abdominal Wall Defects: Omphalocele (Exomphalos) and Gastroschisis

Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia)

Blue Rubber Bleb Nevus Syndrome

Microvillus Inclusion Disease (MID)

Tufting Enteropathy (Intestinal Epithelial Dysplasia)

Autoimmune Enteric Diseases: Celiac Sprue, Crohn Disease (CD), Ulcerative Colitis (UC), and Autoimmune Enteropathy

Biliary

Caroli Disease, Congenital Hepatic Fibrosis (CHF), and Related Biliary Fibrocystic Diseases

Syndromic Paucity of Bile Ducts (Alagille Syndrome, Arteriohepatic Dysplasia)

Gallstone Disease

Extrahepatic Biliary Atresia (EHBA)

Hepatic

Medium-Chain Acyl-Coenzyme A Dehydrogenase (MCAD) Deficiency

Hereditary Hemochromatosis (HH)

Wilson Disease (Hepatolenticular Degeneration)

Alpha-1 Antitrypsin (AAT) Deficiency

Disorders of Bilirubin Conjugation: Gilbert Syndrome and Crigler-Najjar Syndromes

Disorders of Bilirubin Canalicular Secretion: Dubin-Johnson Syndrome and Rotor Syndrome

Autoimmune Liver Disease: Autoimmune Hepatitis, Autoimmune Cholangitis, and Primary Biliary Cirrhosis

Pancreas

Hereditary Pancreatitis

Pancreatic Lipomatosis Syndromes: Shwachman-Diamond Syndrome and Johanson-Blizzard Syndrome

B-Cell and Immunoglobulin Defects

Bruton (X-Linked) Agammaglobulinemia

Common Variable Immunodeficiency (CVI)

Selective IgA Deficiency

Job (Hyper-IgE) Syndrome

Hyperimmunoglobulin M (Hyper-IgM) Syndrome

T-Cell and Combined Defects

DiGeorge Syndrome/Velocardiofacial Syndrome

Severe Combined Immunodeficiency (SCID)

Nezelof Syndrome (Isolated Thymic Aplasia)

Wiskott-Aldrich Syndrome (WAS)

Syndromes Culminating in Fulminant Hemophagocytic Syndrome: Chediak-Higashi Syndrome, Griscelli Syndrome, Duncan Disease, and Familial Hemophagocytic Lymphohistiocytosis (FHL)

Chronic Mucocutaneous Candidiasis

Cartilage-Hair Hypoplasia (CHH) Syndrome

Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance (IPEX) Syndrome

Granulocyte Defects

Inherited Neutropenias: Congenital Neutropenia (Kostmann Syndrome) and Cyclic Neutropenia T9.2

Chediak-Higashi Syndrome

Shwachman-Diamond Syndrome

Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome)

Myelokathexis (and WHIM Syndrome)

Barth Syndrome

Autoimmune Neutropenia

Leukocyte Adhesion Deficiency (LAD)

Lazy Leukocyte Syndrome

Chronic Granulomatous Disease (CGD)

Myeloperoxidase (MPO) Deficiency

May-Hegglin Anomaly

Alder-Reilly Anomaly

Pelger-Huet Anomaly

Complement Component Deficiencies

Deficiency of Classic Pathway Components (C1q, C2, C4)

Deficiency of C3

Deficiency of Terminal Complement Components/Membrane Attack Complex Components (C5-C9)

C1 Esterase Inhibitor (C1 Inh) Deficiency

Chromosomal Breakage Syndromes

Ataxia-Telangiectasia (Louis-Bar Syndrome)

Bloom Syndrome

Fanconi Anemia (FA)

Xeroderma Pigmentosum (XP)/DeSanctis-Cacchione Syndrome

Nijmegen Breakage Syndrome (Berlin Syndrome, Seemanova Syndrome)

Primary Immunodeficiency: Summary and Approach

Classification

Suspecting a Primary Immunodeficiency

Suspecting a Particular Group of Primary Immunodeficiencies

Laboratory Screening for Immunologic Defects

Autoimmunity

Autoimmune Diseases and Inheritance

Monogenetic Autoimmune Conditions

Systemic Lupus Erythematosus

Sjögren Syndrome

Seronegative Spondyloarthropathies: Ankylosing Spondylitis, Reiter Syndrome, Psoriatic Arthritis, and Enteropathic Arthritis

Rheumatoid Arthritis (RA)

Amino Acid and Organic Acid Disorders

Phenylketonuria (PKU)

Hyperhomocysteinemia

Alkaptonuria (Ochronosis)

Urea Cycle Disorders

Organic Acid Disorders (Organic Acidemias)

Nucleic Acid (Purine and Pyrimidine) Metabolism Disorders

Nucleic Acid Metabolism

Lesch-Nyhan Syndrome (HGPRT Deficiency)

Carbohydrate Disorders T10.2

Galactosemia

Glycogen Storage Diseases (Glycogenoses)

Lysosomal Disorders

Lysosomes

I-Cell Disease

Peroxisomal Disorders and Disorders of Fatty Acid Oxidation

Peroxisomal Disorders (Zellweger Syndrome and X-Linked Adrenoleukodystrophy)

Fatty Acid Oxidation Disorders

Mitochondrial Disorders

Mitochondria

Disorders Caused by Structural Mitochondrial DNA Defects: Kearns-Sayre Syndrome, Pearson Syndrome, and Progressive External Ophthalmoplegia

Mitochondrial Encephalopathy with Lactic Acidosis and Strokelike Episodes (MELAS)

Myoclonic Epilepsy with Ragged Red Fibers (MERRF)

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Leigh Syndrome

Classification and Approach to Metabolic Disorders

Classification

Suspecting a Metabolic Disorder

Lipid Disorders

Lipids and Classification of Lipid Disorders T10.6

Familial Hypercholesterolemia (FH)

Familial Hyperchylomicronemia

Familial Hypertriglyceridemia

Elevated Plasma Lp(a)

Familial Dysbetalipoproteinemia

Familial Combined Hyperlipidemia

Lecithin Cholesterol Acyl Transferase (LCAT) Deficiency

Tangier Disease

Central Neurodegenerative Diseases

Alzheimer Disease

Familial Pick Disease (Frontotemporal Dementia with Parkinsonism, Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex (DDPAC), Wilhelmsen-Lynch Disease)

Parkinson Disease and Lewy Body Disease

Huntington Disease (Huntington Chorea)

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Pantothenate Kinase-Associated Neurodegeneration (formerly known as Hallervorden-Spatz Syndrome)

McLeod Syndrome (Neuroacanthocytosis)

Copper Disorders (Menkes Disease, Occipital Horn Syndrome)

Familial Prion Disease (Familial Spongiform Encephalitis, Familial Creutzfeldt-Jakob Disease [CJD], Gerstmann-Sträussler-Scheinker Disease, Fatal Familial Insomnia)

Peripheral Neuropathy

Charcot-Marie-Tooth (CMT) Disease

Familial Amyloidosis (Transthyretin Amyloidosis, Familial Cardiac Amyloidosis, Familial Amyloid Polyneuropathy)

Giant Axonal Neuropathy (GAN)

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP, Tomaculous Neuropathy)

Familial Dysautonomia (Riley-Day Syndrome, HSAN Type III)

Dopamine β-Hydroxylase (DBH) Deficiency

Spinomuscular Atrophy (SMA)

Amyotropic Lateral Sclerosis (ALS)

Diseases of Skeletal Muscle T11.4

Dystrophin Muscular Dystrophies (Duchenne Muscular Dystrophy, Becker Muscular Dystrophy)

Myotonic Muscular Dystrophy (MMD; Steinert Disease)

Limb-Girdle Muscular Dystrophies (LGMD)

Facioscapulohumeral Muscular Dystrophy (FSHD)

Inclusion Body Myositis (IBM)

Nemaline Rod Myopathy

Emery-Dreifuss Muscular Dystrophy (EDMD)

Malignant Hyperthermia (MH)

Hyperkalemic Periodic Paralysis (HPP)

Mitochondrial Myopathy

Hereditary Hearing Loss: Summary and Approach

Nonsyndromic Hearing Loss

Syndromic Hearing Loss

Mental Retardation and Developmental Delay: Summary and Approach

Down Syndrome (Chapter 2)

Fragile X Syndrome (Chapter 2)

Rett Syndrome

Subtelomeric Rearrangements and Uniparental Disomy

Craniosynostosis

Viral Hepatitis

Hepatitis B (HBV)

Hepatitis C Virus (HCV)

Human Immunodeficiency Virus (HIV)

HIV-1

Diagnosis

Monitoring

Detection of Drug Resistance

Bacterial Infection

Primary Diagnosis

Detection of Antimicrobial Resistance

Mycobacteria

Diagnosis

Molecular Species Identification

Molecular Typing (Strain Identification)

Detection of Antimicrobial Resistance

Gastrointestinal Tumor Syndromes

General Features

APC-Associated Syndromes: Familial Adenomatous Polyposis (FAP), Gardner Syndrome, and Turcot Syndrome

MMR-Associated Syndromes: Hereditary Nonpolyposis Colorectal Carcinoma (Lynch Syndrome) and Muir-Torre Syndrome

Juvenile Polyposis

Peutz-Jeghers Syndrome (PJS)

Hereditary Diffuse Gastric Cancer

Cronkhite-Canada Syndrome

Inherited Pancreatic Cancer

Breast Tumor Syndromes

BRCA Gene Mutations

Other Breast Cancer-Associated Mutations

Renal Cell Carcinoma Syndromes

Von Hippel-Lindau (VHL) Disease

Birt-Hogg-Dubé Syndrome

Familial Clear Cell Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Other Tumor Syndromes

Tuberous Sclerosis (Bourneville Disease)

Multiple Endocrine Neoplasia Type 1 (MEN1, Wermer Syndrome)

RET-Associated Diseases: MEN2A (Sipple Syndrome), MEN2B, and Familial Medullary Thyroid Carcinoma (FMTC)

Carney Complex (LAMB Syndrome, NAME Syndrome)

Cowden Syndrome and Other PTEN-Related Disorders

Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)

Neurofibromatosis Type 1 (NF1, Von Recklinghausen Disease)

Neurofibromatosis Type 2 (NF2, Bilateral Acoustic Neuromas)

Osteochondromatosis (Hereditary Multiple Exostoses)

Li Fraumeni Syndrome

Aniridia/WAGR Syndrome

Beckwith-Wiedemann Syndrome

Chromosomal Breakage Syndromes: Ataxia-Telangiectasia, Bloom Syndrome, Fanconi Anemia, Xeroderma Pigmentosum, and Nijmegen Syndrome

Immunodeficiency Syndromes

Genitourinary Tumors

Renal Cell Carcinoma (RCC)

Prostate Cancer

Urothelial (Transitional Cell) Carcinoma

Wilms Tumor

Central Nervous System Tumors

Gliomas

Retinoblastoma

Meningioma

Soft Tissue Tumors T14.3

Ewing/PNET (Ewing Family of Tumors)

Neuroblastoma

Rhabdomyosarcoma (RMS)

Synovial Sarcoma (SS)

Gastrointestinal Stromal Tumor (GIST)

Kaposi Sarcoma (KS) and Human Herpes Virus Type 8 (HHV8)

Low-Grade Fibromyxoid Sarcoma (LGFMS) and Hyalinizing Spindle Tumor with Giant Rosettes (HSTGR)

Liposarcoma

Extraskeletal Myxoid Chondrosarcoma

Breast Cancer

Her2 (Neu, ERB-B2)

EGFR (Her1, ERB-B1)

TP53 Tumor Suppressor Gene

Steroid Receptor Status

Cervical Cancer

Human Papillomavirus (HPV)

Colorectal Cancer

Pathogenesis

Molecular Features of the APC Pathway

Molecular Features of the MMR Pathway

Clinicopathologic Features of APC Pathway Tumors

Clinicopathologic Features of MMR Pathway Tumors

Molecular Testing for APC Defects

Molecular Testing for MMR Defects

Fecal DNA for Colon Cancer Screening

Tyrosine Kinases

Physiologic Features of Tyrosine Kinases

Tyrosine Kinases in Cancer

B-Cell Neoplasms

Gene Rearrangement

Small Lymphocytic Lymphoma/Chronic Lymphocytic Leukemia (SLL/CLL)

Mantle Cell Lymphoma (MCL)

Follicular Lymphoma (FL)

Marginal Zone Lymphoma (MZL)

Hairy Cell Leukemia (HCL)

Lymphoplasmacytic Lymphoma (LPL)/Waldenström Macroglobulinemia

Diffuse Large B-cell Lymphoma (DLBCL)

Burkitt Lymphoma (BL)/Leukemia

Primary Effusion Lymphoma (PEL)

Posttransplant Lymphoproliferative Disorder (PTLD)

Nodular Lymphocyte Predominant Hodgkin Lymphoma (NLPHL)

Acute Lymphoblastic Leukemia (ALL) and Lymphoma

Classification

Molecular Findings

Coexistent Chronic Eosinophilic Leukemia and T-Lymphoblastic Lymphoma (8p11-12 Stem Cell Syndrome)

Plasma Cell Neoplasms

Molecular Findings and Prognosis in Multiple Myeloma

Minimal Residual Disease

T-Cell Neoplasms

The T-Cell Receptor (TCR)

Peripheral T-Cell Lymphoma (PTCL)

Adult T-Cell Leukemia/Lymphoma (ATCL)

Angioimmunoblastic T-Cell Lymphoma (AITCL)

Anaplastic Large Cell Lymphoma (ALCL)

Large Granular Lymphocytic (LGL) Leukemia

Hepatosplenic T-Cell Lymphoma

Blastic NK-Cell Lymphoma

Extranodal (Nasal-Type) NK/T-Cell Lymphoma

Classical Hodgkin Lymphoma (CHL)

Myelodysplastic Syndrome (MDS)

Myelodysplastic/Myeloproliferative Disorders (MD/MPD)

Chronic Myelomonocytic Leukemia (CMML)

Atypical Chronic Myelogenous Leukemia (aCML)

Juvenile Chronic Myelomonocytic Leukemia (JMML)

Myeloproliferative Disorders (MPD)

Chronic Myelogenous Leukemia (CML)

Polycythemia Vera (PV)

Essential Thrombocythemia (ET)

Myelofibrosis with Myeloid Metaplasia (MMM)/Agnogenic Myeloid Metaplasia (AMM)/Chronic Idiopathic Myelofibrosis (CIMF)

Chronic Eosinophilic Leukemia (CEL)/Hypereosinophilic Syndrome (HES)

Chronic Neutrophilic Leukemia (CNL)

Mast Cell Neoplasms

Acute Myeloid Leukemia (AML)

General Features

AML with t(8;21)(q22;q22)

AML with inv(16)(p13q22) or t(16;16)(p13;q22)

AML with t(15;17)(q22;q21)

AML with Anomalies of 11q23 (MLL)

AML with Multilineage Dysplasia

AML and MDS, Therapy-Related

AML, Not Otherwise Categorized

Leukemia in Down Syndrome (Trisomy 21)

Transient Myeloproliferative Disorder (Transient Leukemia)

Introduction

Cytochrome P-450 Enzymes

CYP2D6 (Cytochrome P-450 2D6, Debrisoquine Hydroxylase)

CYP2C9 (Cytochrome P-450 2C9)

CYP2C19 (Cytochrome P-450 2C19)

Other Drug-Metabolizing Enzymes

N-Acetyltransferase (NAT)

Thiopurine Methyltransferase (TPMT)

5,10-methylenetetrahydrofolate Reductase (MTHFR)

Uridine Diphosphoglucuronisyl Transferase 1A1 (UGT1A1)

Excision Repair Cross Complementation, Group 1 (ERCC1)