Hematology and Oncology Flashcards
Progressive decline in Hgb that starts during 1st week of life that persists 6-8 weeks and usually lasts 8-12 weeks
Physiologic Anemia of Infancy
The MC childhood malignancy
anorexia, irritability, lethargy
signs of marrow failure - anemia, bleeding, purpuric/petechial lesions, low grade fever
signs of infiltration - bone pain, lymphadenopathy - splenomegaly > hepatomegaly
Acute Lymphocytic Leukemia (ALL)
pancytopenia + hypercellular (blasts)
The single most important prognostic factor in ALL
TREATMENT
3 of the most important predictive factors in ALL
- Speed of response to treatment
- Age of the patient at the time of diagnosis
- Initial leukocyte count
Poor Prognostic Factors
< 2 yrs or >10 yrs male WBC > 100 000 u/L on presentation (+) CNS leukemia (+) mediastinal mass
Sites of relapse in ALL
bone marrow
CNS – increased ICP and isolated nerve palsies
testes - painless swelling of one or both testes in 1-2 % of males
Sites of metastases in ALL
liver
spleen
lymph nodes
The MC hematologic disease of infancy and childhood
MC in 9-24 mos of age
MCC – poor dietary intake
Iron Deficiency Anemia (IDA)
Most important sign of IDA
PALLOR - 7-8 mg/dL
Reduction of the hemoglobin concentration or RBC volume below the range of values occurring in healthy persons
Anemia
Macrocytic Anemia
MCV > 100
Folate Deficiency
Vitamin B12 Deficiency
Drug and alcohol induced anemia
Microcytic Anemia
MCV < 80
Thalassemia Anemia of Chronic Disease IDA Lead poisoning Sideroblastic anemia
Normocytic Anemia
MCV 80-100
Anemia of Chronic Disease
Uremia
Hypothyroidism
BM failure (aplastic anemia)
Non hematologic effects of IDA
Pica
Pagophagia - ICE
Neurocognitive effects
Diagnostic findings in IDA
low reticulocyte count microcytic, hypochromic RBCs high RDW high TIBC low serum iron and ferritin
microcytic, hypochromic
low reticulocyte count
HIGH RDW
Iron of Deficiency Anemia
microcytic, hypochromic
low reticulocyte count
NORMAL - DECREASED RDW
Thalassemia
IDA vs Chronic Disease of Anemia
IDA - TIBC - HIGH
Anemia of Chronic Disease - TIBC - LOW
Inherited microcytic hemolytic anemia d.t. abnormal hemoglobin synthesis
Result when 1 or more of globin gene mutates
Thalassemia
Due to decrease in alpha-globin chain synthesis
Alpha Thalassemia
Diagnosis of Alpha Thalassemia
DECREASED reticulocyte count (d.t. ineffective hematopoiesis) microcytic hypochromic RBCs normal RDW TARFET CELLS HEINS BODIES
Treatment of Alpha Thalassemia
frequent transfusions
chelation therapy - Deferoxamine
Splenectomy
Due to decrease in beta-globin chain synthesis or absence of beta chain of hemoglobin
Beta Thalassemia
Beta thalassemia major (Cooley anemia)
Beta thalassemia minor
Treatment of Beta Thalassemia
aggressive transfusions
chelation therapy as needed
hydroxyurea
splenectomy
Normochromic, normocytic RBCs
Increased MCHC
Spherocytosis
Results from decrease in RBC survival
pallor
jaundice d.t. increased indirect bilirubin
increased LDH
HEMOLYTIC ANEMIA
Characteristic findings in Hemolytic Anemia
normocytic, normochromic RBCs
increased reticulocyte count
Etiologies of Hemolytic Anemia
Intrinsic RBC defects – structural or metabolic abnormalities
Autoimmune destruction
Intravascular destruction
Hemolytic anemia d.t. intrinsic RBC defects
Spherocytosis
Sickle Cell Disease
Complications of Sickle Cell Disease
painful (vaso-occlusive) crisis
splenic sequestration crisis – auto-splenectomy – increased susceptibility to encapsulated organisms
aplastic crisis
priapism
stroke
leg ulcers
acute chest syndrome
Idiopathic
Usually with VIRAL trigger
MUCOSAL bleeding
normal Hgb and WBC
DECREASED platelet
Idiopathic Thrombocytopenic Purpura
Treatment of ITP
Supportive
Steroids
IVIG
X linked recessive deficiencies of factor VIII and factor IX
HEMOPHILIA
Hemophilia A (factor VIII) - MC
Hemophilia B or Christmas Disease (factor IX)
The MC hereditary BLEEDING disorder
von Willebrand disease
The MC and most serious congenital and coagulation factor deficiencies
Hemophilia A
The MC hereditary HYPERCOAGULABLE disorder
Factor V Leiden
Hallmark of Hemophilia
PROLONGED BLEEDING
Earliest joint hemorrhages in children
ANKLES
Diagnosis of von Willebrand disease
DECREASED vWF and factor VIII levels PROLONGED bleeding time ABNORMAL platelet adhesion INCREASED PTT Ristocetin cofactor assay - measures vWF antigen levels and activity
Treatment of von Willebrand disease
MILD - DESMOPRESSIN - causes release of vWF from endothelial stores
SEVERE - Factor VIII (contain high vWF Ag)
Platelet dysfunction
bruising
mucosal bleeding – epistaxis, menorrhagia
Coagulation disorder
joint bleeding
muscle bleeding
Normal PT, bleeding time and platelet count
PROLONGED PTT
Hemophilia A and B
normal PT
normal or decreased platelet count
PROLONGED PTT and BLEEDING TIME
von Willebrand disease
normal PT and PTT
PROLONGED BLEEDING TIME
DECREASED platelet count
ITP
normal bleeding time and platelet count
normal or prolonged PTT
PROLONGED PT
Vitamin K deficiency
PROLONGED PT, PTT and BLEEDING TIME
DECREASED PLATELET COUNT
DIC
Renal tumor of embryonal origin
2nd MC malignant abdominal tumor in childhood
WILMS TUMOR
Associated with:
Neurofibromatosis
Beckwith Wiedemann syndrome (hemihypertrophy, visceromegaly, macroglossia)
WAGR syndrome (Wilms tumor, Aniridia, Genitourinary abnormalities, Mental retardation)
PAINLESS abdominal enlargement with flank mass that does NOT cross the midline
Hematuria, Hypertension
WILMS TUMOR
kidneys - origin/location
Embryonal tumor of neural crest cell origin
3rd MC pediatric cancer
NEUROBLASTOMA
Associated with:
N-myc oncogene - tuberous sclerosis
Neurofibromatosis - pheochromocytoma
Hirschprung disease
Abdominal mass that CROSSES the midline
Horner syndrome
HPN
cord compression (from a paraspinal tumor)
NEUROBLASTOMA
anywhere along the neuroaxis (adrenals- MC) - origin/location
Site of metastasis in Wilms tumor
LUNGS
Site of metastasis in Neuroblastoma
BONES
Diagnosis of Wilms tumor
Imaging
Biopsy
Diagnosis of Neuroblastoma
Imaging
Biopsy (BMA)
Urine VMA and HVA
Differential Diagnosis of Small Round Blue Cell Tumors
WARMERPN
Wilms tumor Acute leukemia Rhabdomyosarcoma Mesothelioma/Medulloblastoma Ewing Sarcoma Retinoblastoma Primitive Neuroectodermal tumor (PNET) Neuroblastoma
Typical PBS findings in APLASTIC ANEMIA
pancytopenia
HYPOCELLULAR
Pancytopenia
Fanconi anemia
Aplastic Anemia
Treatment of Aplastic Anemia
RBC and platelet transfusion
Allogenic BM transplant (sibling)
Granulocyte colony-stimulating factor or Granulocyte macrophage colony-stimulating factor
MC solid tumor
Brain tumors
MC solid tumor OUTSIDE CNS
Neuroblastoma
MC soft tissue tumor
Rhabdomyosarcoma
Malignancy with HIGHEST mortality
Brain (PNET)
2nd decade
MALES
spindle cell producing OSTEOID
METAPHYSIS of long bones
local pain and swelling often with history of injury
SUNBURST PATTERN
OSTEOSARCOMA
2nd decade
MALES
undifferentiated small round cell of neural origin
DIAPHYSIS of long bones
local pain and swelling with fever
ONION SKINNING/MOTH EATEN APPEARANCE
EWING SARCOMA
Minimal Hgb levels in physiologic anemia of prematurity
7-9 g/dL
RESPONSE TO IRON THERAPY
12-24 hrs - subjective improvements
26-48 hrs - initial bone marrow response
28-72 hrs - reticulocytosis
4-30 days - increasing Hgb levels
1-3 mos - repletion of stores
1st lab value to decline in IDA
serum FERRITIN
Definitive diagnosis of thalassemia and SCD
Hb Electrophoresis
Hereditary Spherocytosis Confirmatory Test
Osmotic Fragility Test
Curative for hereditary spherocytosis
Splenectomy
Mutation in Sickle Cell Disease
MISSENSE mutation
At the end of induction therapy, peripheral blast count or minimal residual disease must be
<0.01 %
WAGR syndrome
Wilms tumor
Aniridia
GU malformation
Mental retardation
Beckwith-Wiedemann syndrome
Visceromegaly Macroglossia Omphalocele Hyperinsulinemic hypogycemia Wilms tumor, Hepatoblastoma
Denys-Drash syndrome
Nephropathy
Renal Failure
Male pseudohermaphrodism
Wilms tumor
Malignancy that may present with raccoon eyes, subcutaneous tumor nodules, “dancing eyes, dancing feet”
Neuroblastoma
Treatment for neuroblastoma
Stage 4S
Observation
