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Heme/Onc Exam 1 Diseases
Diseases and conditions for Heme/Onc exam 1
65
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08/27/2011

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Term
Familial Adenomatous Polyposis
Definition
mutation of APC on 5q21, adenomatous polyps in teens/twenties, 100% malignant risk by age 60, thyroid lesions
Term
Classic FAP
Definition
relative with FAP, mutation in exons 1-4
Term
Attenuated FAP
Definition
<100 polyps by 50-55 years, mutations in exons 3-4/15
Term
Gardner Syndrome (FAP)
Definition
osteomas/fibromas/desmoid tumors
Term
Turcot Syndrome (FAP)
Definition
colon cancer/medulloblastomas
Term
HNPCC/Lynch Syndrome
Definition
40% no explained genetic basis (HNPCC), 60% DNA MMR abnormal (Lynch), risk for endometrial/upper GI/upper urinary/ovarian/pancreaticobiliary carcinoma, lymphocytes in tumor, chrons-like inflammation, mucinous pattern, signet ring cells, medullary growth pattern
Term
Breast Cancer
Definition
BRCA1 germline mutations, graded on histology/hormonal expression, therapy/prognosis/predictors of response based on ER/PR/HER2
Term
Cervical Cancer
Definition
95% SCCs due to high-risk HPV (16,18,31,33,45), 40-70% adenocarcinomas due to HPV 18, CIN-1 (10-30% HPV 6&11), CIN-2 (60-80% HPV 16,18,31,33, 1-5% HPV 6&11)
Term
Bcell neoplasms
Definition
test with southern blot for band pattern (probe with J-probe), test with PCR, rule out polyclonal response to H pylori
Term
Follicular Lymphoma
Definition
Bcl-2 (18) translocated to heavy chain, t(14;18)
Term
Burkitt's lymphoma
Definition
c-myc (8) translocated to IgH (4)/ IgLk (20)/ IgLl (22)
Term
Tcell Neoplasms
Definition
test for gamma-chain gene rearrangements, use PCR to test clonality
Term
Chronic Leukemias
Definition
translocation of c-abl (9q34) with BCR (22q11) is Philadelphia chromosome, test with FISH and RT-Q-PCR of BCR/abl mRNA
Term
Down Syndrome
Definition
mutations in GATA-1 more common, causes megakaryocytic malignancy
Term
Acute Intermittent Porphyria
Definition
defect of porphobilinogen deaminase, accumulation of porphobilinogen/d-ALA, treat with sugar and synthetic heme (hemin)
Term
Porphyria Cutanea Tarda
Definition
defect of uroporphyrinogen decarboxylase, accumulation of uroporphyrin, 90% related to HCV/alcohol/hereditary hemachromotosis/liver disease
Term
Porphyria
Definition
5 P's- painful abdomen, pink urine, polyneuropathy, psychological disturbance, precipitated by drugs
Term
Hereditary hemochromatosis
Definition
defect of hepcidin, bronze diabetes/diastolic heart failure/micronodular cirrhosis/arthropathy of iron in joints/erectile dysfunction, men affected earlier, treat with phlebotomy
Term
Methemoglobinemia
Definition
heme contains Fe3+, can't bind O2, blood turns blue color, treated with methylene blue
Term
Bruising
Definition
heme (red/purple), becomes bilverdin IXa (green), becomes bilirubin IXa (yellow)
Term
Hemolytic jaundice
Definition
too much bilirubin to conjugate, accumulates in tissues
Term
Neonatal jaundice
Definition
decreased bilirubin conjugation, accumulates in tissues
Term
Dihydropyramidine dehydrogenase (DPD) deficiency
Definition
10% of population, unable to metabolize pyrimidine metabolites, causes fatal reaction with 5-FU therapy
Term
Megaloblastic anemia
Definition
DNA synthesis in blone marrow is disrupted, due to B12/folate deficiency, hypersegmented neutorphils, angular chelitis
Term
Pernicious anemia
Definition
autoantibodies to parietal cells, no intrinsic factor made to help absorb B12, more common in women/elderly, associated with autoimmune thyroiditis/vitiligo/adrenal
Term
B12 deficiency
Definition
due to gastric resection or bypass/vegan diet/bacterial small bowel blind loop/ileal damage/diphyllobothrium latum, neurologic sequelae
Term
Folate deficiency
Definition
due to increased utilization/hemolytic anemia/exfoliative dermatitis/pregnancy and infancy
Term
heme deficiency
Definition
due to Pb&Zn/hereditary d-ALA synthase deficiency (X-linked)/isoniazid/EtOH/Cu&pyridoxine deficiency
Term
Erythrocytosis
Definition
due to polycythemia vera/cigarettes/psychological stress/COPD/high altitudes/hemoglobinopathy
Term
Sickle Cell anemia
Definition
6 Glu-Val mutation in B hemoglobin chain, severity of disease due to decreased HbA, intra-erythrocytie deoxyHbS polymerization, sickling causes vaso-occlusion, decreased RBC survival (15-25 days), aplastic crisis with B19 parvovirus, a-thalassemia/HbF reduce symptoms, Hb heterozygosity/B-thalassemia increase clinical severity
Term
Acute chest syndrome
Definition
fever, pain, leukocytosis, pulmonary HTN/infiltrate
Term
Vaso-occlusion of sickle cell disease
Definition
occlusion causes hypoxemia/necrosis/pain, usually in bone/abdomen/extremities/back, infarction of cerebrovasculature (stroke), autosplenectomy by 6-8 years
Term
Clinical findings of sickle cell
Definition
leg ulcers/smelly infections, dactylitis from infarcts in bones, most severe 6-18mo when HbF declines, less severe after 6yr when peripheral hematopoiesis decreases
Term
a-thalassemia
Definition
more common in africans/asians, silent carrier 3a, minor 2a, HbH 1a, hydrops fetalis 0a
Term
Hemoglobin H disease
Definition
double heterozygotes for a-thal1 and a-thal2, significant unstable B4 proportion, Hb barts (g4) in infants/neonates, variable hemolytic anemia, golf-ball RBCs with supra-vital stain
Term
Hydrops fetalis
Definition
homozygous for a-thal1 (no a-chains), die in-utero/hours after birth, massive extramedullary hematopoiesis, sever anemia causes CHF/massive body edema, looks similar to Rh- hemolytic disease
Term
B-thalassemia minor
Definition
borderline anemia (hct-35%), severe microcytosis (MCV-60fL), incrased RBCs, increased HbA2, genetic counseling if partner has B+/Bo, normal Fe/TIBC/ferritin
Term
B-thalassemia major
Definition
100% HbF, dependent on RBC transfusions, become symptomatic at 6mo, increased Fe uptake, failure to thrive, splenomegaly, extramedullary erythropoiesis, Fe overloads from multiple transfusions, mortality from iron damage to pancreas/liver/myocardium/adrenals, increased risk of diabetes/cirrhosis/CHF/adrenal insufficiency/no puberty, need early iron chelation, splenectomy to decrease hemolysis, folic acid suplements, allogeneic BMT if possible
Term
B-thalassemia intermedia
Definition
homozygous B+, bone deformities from extramedullary hematopoiesis, iron overload after transfusions, leg ulcers
Term
Clinical findings of hemolytic anemia
Definition
jaundice/scleral icterus/pallor/fatigue/weakness/headache/fever/chills/orange or red urine/splenomegaly
Term
Hereditary Spherocytosis
Definition
spectrin deficiency, defect in RBC membrane is less deformable, lose fragments when subjected to shear forces during splenic sequestration, low MCV, splenomegaly/marrow erythroid hyperplasia/reticulocytosis/cholelithiasis, splenectomize to correct anemia
Term
G6PD deficiency
Definition
X-linked, RBCs injured by oxidants, heinz bodies of denatured globins, precipates cause intravascular hemolysis, bite-cells from splenic macrophages, due to drugs/infections/fava beans/acidosis
Term
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Definition
acquired membrane defect secondary to mutation of myeloid stem cells, associated with abnormal complement, occurs during primary bone marrow failure, acute intravascular hemolysis, thrombosis and infection due to platelet/granulocyte defects, deficiency of PIG, detect with flow cytometry for CD59, supportive therapy with allogeneic stem cell transplant
Term
Immunohemolytic anemia
Definition
antibodies or complement against normal/abnormal RBC membrane, inducible by drugs/exogenous agents/transfusions, must determine temperature dependence of activity of antibody
Term
Hemolytic disease of fetus and newborn
Definition
IgG crosses placenta and causes hemolysis
Term
Myelodysplastic syndrome
Definition
median age mid-60s, asymptomatic macrocytic anemia
Term
Infectious Reactions
Definition
almost any systemic infection, bacterial/viral/ricketts/parasites
Term
Reactive Polycythemia
Definition
increased Hgb (Men Hgb>20, women Hgb>18), must be explained, EPO usually elevated due to low O2 tension, often due to CO of smoking, testosterone and altitude-induced, obstructive sleep apnea induces EPO/Hgb during night hypoxia
Term
Physiological Neutrophilia
Definition
due to heat/acute anorexia/exercise/seizures/epinephrine/pain/nausea/vomiting/anxiety/labor
Term
Pathological neutrophilia
Definition
due to acute infection/inflammation/intoxication/metabolic disorders/malignant neoplasm/hemorrhage/leukemoid reaction (30,000/ul)
Term
Chronic Granulomatous Disease
Definition
decreased oxidative burst, deficiency of phagocyte oxidase, cytoplasmic (AR) and membrane (X-linked) forms
Term
Myeloperoxidase Deficiency
Definition
defect MPO-H2O2, decreased microbial killing
Term
Leukocyte Adhesion Deficiency type 1
Definition
mutation in B chain of CD11/CD18,
Term
Leukocyte Adhesion Deficiency type 2
Definition
mutation of fucosyl transferase (no sialyl-lewis X synthesis)
Term
Chediak Higashi Syndrome
Definition
decreased leukocyte function, mutation in lysosomal membrane traffic
Term
Hyperimmunoglobulin E Syndrome
Definition
decreased Tcell IFN-g, abnormal chemotaxis, increased susceptibility to staphylococcal infections
Term
Neutropenia
Definition
due to aplastic anemia/bone marrow toxins/SLE/marrow infiltrates/chemo/radiation/congenital disorders/hypersplenism/immune destruction
Term
Eosinophilia
Definition
due to parasites/allergies/dermatitis/CML/drug reactions/ hypereosinophilic syndrome/chronic myeloproliferation
Term
Eosinopenia
Definition
due to acute severe infection/glucocorticoids/epinephrine/prostaglandins
Term
Basophilia
Definition
due to CML/allergies/hypothyroidism/chronic renal failure/radiation/splenectomy
Term
Basopenia
Definition
due to glucocorticoids/acute stress/infection/hyperthyroidism
Term
Monocytosis
Definition
good sign after chemo, due to myelodysplasia, collagen vascular disease (SLE)/infections/sarcoidosis/Gaucher's disease/CCl4 poisoning
Term
Monocytopenia
Definition
due to aplastic anemia/glucocorticoids/hairy cell leukemia
Term
Lymphocytosis
Definition
due to acute bacteria (pertuss, brucellosis)/viral (measles, mums, rubella, roseola)/infectious mononucleosis (CMV, EBV)/chronic infections (TB, syphilis, fungus)/ALL/CLL/drug reactions/hepatitis
Term
Lymphopenia
Definition
due to congenital immunodeficiency/AIDS/glucocorticoids/chemo/radiation/infiltrative malignancies
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