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Cytogenetics - Disorders of Chromosome Structure
Follicular Lymphoma
Derives from Germinal Center
Occurs in adults
T14;18
BCL 2 overexpression
BCL 2 inhibits apoptosis
Indolent
Generalized lymphadenopathy
Bone marrow involvement
2 mins
Acute Myelogenous Leukemia (AML)
Myeloblasts Increase on Peripheral Smear
Median Onset 60 Years
T 15;17 M3 Subtype
Auer Rods
Disseminated Intravascular Coagulation (DIC) is a Common Presentation
M5 Gum Infiltration
Responds to Vitamin A
3 mins
Ewing's Sarcoma
Epidemiology
Most Common in Boys < 15 years old
Pathophysiology
11;22 Translocation
Characteristics
Long bones, Pelvis, Ribs
Diaphysis
Small Blue Cells
Malignant
Aggressive
Onion-skin Appearance
TREATMENT
Responsive to Chemotherapy
2 mins
Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Mental Retardation
Simian Crease
Flat Facies
Duodenal Atresia
Hirschsprung's Disease
Septum Primum Type ASD
Endocardial Cushion Defects
Prominent Epicanthal Folds
Increased Risk of Acute Lymphoblastic Leukemia
Alzheimer's Disease
2 mins
Acute Lymphoblastic Leukemia (ALL)
Ages < 15
May Present with Bone Marrow Involvement in Children
Mediastinal Mass in Adolescents
TdT Positive
CALLA Positive
t(12;21) Better Prognosis
Spread to CNS and Testes
Most Responsive to Chemotherapy
2 mins
Burkitt's Lymphoma
Adolescents or young adults
C-myc gene moves next to heavy chain Ig gene
T 8;14
Starry sky appearance
Sheets of lymphocytes with interspersed macrophages
Jaw lesion in endemic (African) form
Pelvis or abdomen in non endemic form (American form)
Associated with EBV
2 mins
Mantle Cell Lymphoma
Older Males
Activation of Cyclin D Gene
T 11;14
CD5
Poor Prognosis
55 secs
Chronic Myelogenous Leukemia (CML)
Pathophysiology
BCR-ABL
9;22 Translocation
Philadelphia Chromosome
Signs & Symptoms
Tyrosine Kinase
Low Alkaline Phosphatase
Splenomegaly
Considerations
Blast Crisis
Age 30 to 90 Years
Responds to Imatinib
3 mins
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