WBC Diseases Flashcards
Storage Diseases - Chronic Granulomatous Disease (CGD)
* Mutation:
* Deficiency:
Mutation: gp91phox/p47 gene coding for NADH Oxidase
Deficiency: NADH Oxidase (Bacterial Killing)
Storage Diseases - Gaucher Disease
* Mutation:
* Deficiency:
* Appearance:
Mutation: Glucocerebrosidase (GBA) 1 gene in chromosome 1q21
Deficiency: B-glucocerebrosidase
Appearance: Crumpled tissue paper/Onion Skin like
Triage: Hepatomegaly, Gaucher Cells in BM, Hyperphosphatemia
Storage Disease - Neimann -Pick Disease
* Mutation:
* Deficiency:
* Appearance:
Mutation: Spingomyelin phosphodiesterase 1 gene (SMPD 1 gene)
Deficiency: Acid spingomyelin (ASM)
Characteristics: Foamy Cells
WBC Anomly in Granulocyte
Hypersegmentation
> 5 lobes
Common: Megaloblastic anemia
WBC Anomly in Granulocyte
Hyposegmentation - Pelger-Huet Anomaly (Heterozygous)
Bilobed “Pince-nez” appearance/Dumbell shaped
WBC Anomly in Granulocyte
Hyposegmentation - Pelger-Huet Anomaly (Homozygous)
Round/Oval nuclei - No segmentation
WBC Anomly in Granulocyte
Chediak Higashi Syndrome
Giant lysosomal Granules
WBC Anomly in Granulocyte
May Heglin Anomaly
Giant platelets with Dohle-like bodies
WBC Anomly in Granulocyte
Alder Reily Anomaly
Large metachromaric Granules, resembles toxic granulation
Associated in Mucopolysaccharidosis - Hunter, Hurler’s, San filipo
WBC Anomly in Granulocyte
Aur Rods
a.k.a Faggot cells
Fused primary granule
WBC Anomly in Granulocyte
Dohle-bodies
Aggregates of free ribosomes of RER
WBC Anomly in Monocyte
Gaucher Disease
*Deficiency in B-galactocerebrosidase *causing Galactocerebroside accumulation in macrophage.
Most common Lipid Storage Disease
Gaucher Disease
WBC Anomaly in Monocyte
Crumpled Tissue paper/Onion like skin
Gaucher Disease
WBC Anomaly in Monocyte
Neimann’s Pick Syndrome
Deficiency in sphingomyelinase
Foam Cell
Niemann’s Pick Syndrome
Infectious Mononucleosis
* Cause:
* Target Cell:
a.k.a Kissing’s Disease
Infectious Mononucleosis
* Cause: Epstein-Barr Virus
* Target Cell: B cells
Cytomegalovirus
Most common Congenital infection
WBC Anomaly in Lymphocytes/Plasma cells
Hairy Cell
Lymphocyte with hair-like projections
WBC Anomaly in Lymphocytes/Plasma cells
Flame Cell
Plasma cell with Red-Pink cytoplasm
Seen in Multiple Myeloma
WBC Anomaly in Lymphocytes/Plasma cells
Grape cell
a.k.a Mott cell/Morula cell
Plasma cell with vacuoles
“Honeycombed appearance”
WBC Anomaly in Lymphocytes/Plasma cells
Sezary Cell
seen in Mycoses Fungoides
Round lymphocyte with nucleus that is grooved or convoluted (Cerebri form)
“Cerebri form” - Brainlike convolutions
WBC Anomaly in Lymphocytes/Plasma cells
Reider Cell
Lymphocytes with clover-leaf appearance
Seen in CLL
WBC Anomaly in Lymphocytes/Plasma cells
LE cell
**Neutrophil **with ingested homogenous round body
Smooth and evely distributed
WBC Anomaly in Lymphocytes/Plasma cells
Tart cell
Monocyte with ingested lymphocyte
Rough and evenly distributed
WBC Anomaly in Lymphocytes/Plasma cells
Smudge/Basket cell
Degenerated nucleus of ruptured WBC
* Smudge cell - Lymph; Thumbprint appearance
* Basket cell - Gran; Net-like chromatin pattern
Increased in CLL
FAB Classification
* Based on:
* Diagnosis of AML:
FAB Classification
* Based on:
*Morphology
Cytochemical stain
* Diagnosis of AML: >30%
WHO Classification
* Based on:
* Diagnosis of AML:
WHO Classification
* Based on:
Morphology
Cytochemical stain
*Cytogenetics*
*Molecular abnormality
* Diagnosis of AML: >20%
> 30 blasts
FAB Classifification
> 20% blasts
WHO Classification
Standard for Diagnosis of Lekemia
WHO Classification
FAB Classification of ALL
Childhood ALL
FAB L1
Small, Homogenous Cell size
FAB Classification of ALL
Adult ALL
FAB L2
**Large, Heterogenous ** Cell size
FAB Classification of ALL
Burkitt’s type
FAB L3
Large, Homogenous Cell size
FAB Classification of ALL
Most T-cell ALL
FAB L1
FAB Classification of ALL
Most B-cell ALL
FAB** L3**
FAB Classification - AML
M0
Acute UNDIFFERENTIATED Leukemia
ALL
Most common Leukemia in Children
AML
Most common Leukemia in Adult
FAB Classification of AML
M1
Acute MYELOBLASTIC Leukemia without maturation
>90% of myeloblasts
FAB Classification of AML
M2
Acute MYELOBLASTIC Leukemia with maturation
<90% of Myeloblasts, >10% of Myeloid cells
FAB Classification of AML
M3
Acute PROMYELOCYTIC Leukemia
Seen in DIC and with mass of Auer Rods
Acute Promyelocytic Anemia (APL)
* Abnormality:
* Associated disease:
* Anomaly:
Acute Promyelocytic Anemia (APL)
* Abnormality: t (15:17)
* Associated disease: DIC
* Anomaly: Auer Rods
FAB Classification of AML
M4
Acute MYELOMONOCYTIC Leukemia
Naegeli Syndrome
M4
FAB Classification of AML
M5a
Acute MONOCYTIC Leukemia without maturation
>80% Monoblasts
FAB Classification of AML
M5b
Acute MONOCYTIC Leukemia with maturation
>80% Monocytes
FAB Classification of AML
Schilling’s Leukemia
M5a
FAB Classification of ALL
M6
Acute ERYTHROBLASTIC Leukemia
a.k.a Erythremic Myelosis
FAB Classification of AML
Di Guglielmo Syndrome
M6
PAS (+)
FAB Classification of AML
M7
Acute MEGAKARYOCYTIC Leukemia
FAB Classification of AML
M8
Acute BASOPHILIC Leukemia
Myeloproliferative Disorders
“PEP-C”
Myeloproliferative Disorders
* P - PCV
* E - Essential thrombocythemia
* P - Primary Myelofibrosis/Myelofibrosis w/ Myeloid metaplasia
* C - Chronic Myelogenous Leukemia
Myeloproliferative Disorder
Chromic Myelogenous Leekemia (CML)
Presence of Philadelphia Chromosome due t(9:22) or BCR/ABL gene mutation
Chronic Myeloproliferative Diroder that is only NEGATIVE FOR JAK2 V617F gene
Chronic Myelogenous Leukemia
Leukemia that is also associated to Philadelphia chromosome
ALL
> 1,000 x 10^9/L
Essential Thrombcythemia (ET)
Lymphoproliferative Disorder
Polycythemia Vera
Characterized by panmyelosis (hypercellular BM) and low EPO
Lymphoproliferative Disorder
Lab Findings - PCV
* BM:
* EPO:
* Positive:
Lab Findings - PCV
* BM: Panmyelosis
* EPO: Low EPO
* Positive: JAK2 V617F gene
Myeloproliferative Disorder
Primary Myelofibrosis
a.k.a Myelofibrosis with Myeloid Metaplasia
Fibrosis & Granulocytic hyperplasia of BM
Lymphoproliferative Disorder
Non-Hodgkin’s Lymphoma
a.k.a Nodular Lymphocyte Predominant Hodgkin’s Lymphoma
Small B-cell Neoplasm
Popcorn Cell
Pathognomonic cell in Non-Hogkin’s Lymphoma
Reed-Sternberg Cell
Pathognomonic cell in Hodgkin’s Lymphoma
Lymphoproliferative Disorder
Hairy Cell Leukemia
B-cell malignancy with hairy like projections
Lymphoproliferative Disorder
Associated Disorder - Sezary Cells
Mycoses Fungoides
Malignancy of T-cells
Flower Cell
Adult T-cell Leukemia
Caused by HTLV-1
Gammopathy
Multiple Myeloma
Monoclonal gammopathy due to increased IgG
Presence of Bence Jonce Proteins
Gammopathy
Waldemstrom’s Macroglobulinemia
Monoclonal gammopathy due to increased IgM