Pediatric Hematology and Oncology Flashcards
Acute leukemia is defined as a neoplastic proliferation of blasts > […]% on bone marrow biopsy.
Acute leukemia is defined as a neoplastic proliferation of blasts > 25% on bone marrow biopsy
e.g. ALL is diagnosed by presence of > 25% lymphoblasts in the bone marrow
Aplastic anemia may be caused by Fanconi anemia, which occurs due to a […] defect, resulting in bone marrow failure (pancytopenia).
Aplastic anemia may be caused by Fanconi anemia, which occurs due to a DNA repair defect, resulting in bone marrow failure (pancytopenia).
defect in nonhomologous end joining (double stranded break repair)
Aplastic anemia may be caused by […] anemia, which occurs due to a DNA repair defect, resulting in bone marrow failure (pancytopenia).
Aplastic anemia may be caused by Fanconi anemia, which occurs due to a DNA repair defect, resulting in bone marrow failure (pancytopenia).
defect in nonhomologous end joining (double stranded break repair)
Aplastic crisis is often seen in patients with sickle cell disease and is characterized by […] reticulocyte count.
Aplastic crisis is often seen in patients with sickle cell disease and is characterized by decreased reticulocyte count.
important distinguishing feature from splenic sequestration
Aplastic crisis is often seen in patients with sickle cell disease and is characterized by […] platelet count.
Aplastic crisis is often seen in patients with sickle cell disease and is characterized by normal platelet count.
important distinguishing feature from splenic sequestration and aplastic anemia
At baseline, patients with sickle cell disease have […] levels of HbF.
At baseline, patients with sickle cell disease have increased levels of HbF.
due to prolonged lifespan of HbF-containing RBCs
Avascular necrosis of the femoral head results in pain on hip […] and […]. (movements).
Avascular necrosis of the femoral head results in pain on hip abduction and internal rotation. (movements)
there is no erythema, swelling, or point tenderness, which helps differentiate avascular necrosis from other etiologies
Children with sickle cell disease should take daily oral […] prophylaxis until 5 years of age.
Children with sickle cell disease should take daily oral penicillin prophylaxis until 5 years of age.
Cytoplasmic aggregates of periodic acid Schiff (PAS) positive material are characteristic of […]-blasts.
Cytoplasmic aggregates of periodic acid Schiff (PAS) positive material are characteristic of lympho-blasts.
versus myeloblasts, which often have peroxidase positive granules and/or Auer rods
Cytoplasmic aggregates of peroxidase positive granules and/or Auer rods are characteristic of […]-blasts.
Cytoplasmic aggregates of peroxidase positive granules and/or Auer rods are characteristic of myelo-blasts.
versus lymphoblasts, which often have aggregates of periodic acid Schiff (PAS) positive material
Diamond-Blackfan anemia is associated with congenital anomalies, such as short stature, webbed neck, cleft lip, shield chest, and […] thumbs.
Diamond-Blackfan anemia is associated with congenital anomalies, such as short stature, webbed neck, cleft lip, shield chest, and triphalangeal thumbs.
suspect in children with the aforementioned anomalies and a macrocytic pure red cell aplasia
Heinz bodies form due to precipitation of denatured […] within RBCs.
Heinz bodies form due to precipitation of denatured hemoglobin within RBCs
Hb sulfhydryl groups donate an electron to hydrogen peroxide, forming hemoglobin crosslinks
How do the following laboratory values change in anemia of chronic disease?
Serum iron: […]
TIBC: […]
% Saturation: […]
Ferritin: […]
How do the following laboratory values change in anemia of chronic disease?
Serum iron: decreased
TIBC: decreased
% Saturation: decreased
Ferritin: increased
high ferritin and low TIBC help distinguish ACD from iron deficiency anemia
How do the following laboratory values change in iron deficiency anemia?
Serum iron: […]
TIBC: […]
% Saturation: […]
Ferritin: […]
Serum iron: decreased
TIBC: increased
% Saturation: decreased
Ferritin: decreased
low ferritin and high TIBC help distinguish iron deficiency from anemia of chronic disease
How do the following laboratory values change in sideroblastic anemia?
Serum iron: […]
TIBC: […]
% Saturation: […]
Ferritin: […]
Serum iron: increased
TIBC: decreased
% Saturation: increased
Ferritin: increased
“iron overload”
In patients with sickle cell disease, chronic damage and autoinfarction typically causes functional asplenia by age […].
In patients with sickle cell disease, chronic damage and autoinfarction typically causes functional asplenia by age 5.
Iron deficiency anemia can be differentiated from thalassemia by an elevated […].
Iron deficiency anemia can be differentiated from thalassemia by an elevated red cell distribution width (RDW).
typically > 20% in iron deficiency
Iron deficiency anemia in children is often caused by excess consumption of […].
Iron deficiency anemia in children is often caused by excess consumption of cow’s milk (> 24 ounces/day).
Osteosarcoma arises in the […] of long bones, often around the knee.
Osteosarcoma arises in the metaphysis of long bones, often around the knee
i.e. distal femur or proximal tibia
Polycythemia in term neonates is defined as a hematocrit > […]%.
Polycythemia in term neonates is defined as a hematocrit > 65%.
risk factors include delayed cord clamping, maternal hypertension, and maternal diabetes mellitus
Pure red cell aplasia is associated with […], lymphocytic leukemias, and parvovirus B19 infection.
Pure red cell aplasia is associated with thymoma, lymphocytic leukemias, and parvovirus B19 infection.
severe anemia with normal granulopoiesis and thrombopoiesis
Risk factors for neonatal polycythemia include delayed cord clamping, maternal […], and maternal […].
Risk factors for neonatal polycythemia include delayed cord clamping, maternal hypertension, and maternal diabetes mellitus.
Splenectomy is associated with a long-term risk for sepsis with […] bacteria.
Splenectomy is associated with a long-term risk for sepsis with encapsulated bacteria.
risk is present for up to 30 years, and perhaps longer
Splenic sequestration is characterized by normocytic anemia with […] reticulocyte count.
Splenic sequestration is characterized by normocytic anemia with increased reticulocyte count.
important distinguishing feature from aplastic crisis
Splenic sequestration is characterized by […] platelet count.
Splenic sequestration is characterized by decreased platelet count.
platelets are trapped in the spleen along with RBCs
Thalassemia minor is characterized by […] total RBC count and […] RDW.
Thalassemia minor is characterized by normal total RBC count and normal RDW.
important distinguishing feature from iron deficiency anemia
The combination of a vascular tumor (e.g. hemangioma) and consumptive thrombocytopenia is indicative of […] syndrome.
The combination of a vascular tumor (e.g. hemangioma) and consumptive thrombocytopenia is indicative of Kasabach-Merritt syndrome.
large or rapidly-growing tumors may trap platelets causing severe thrombocytopenia
Kasabach-Merritt syndrome is characterised by the combination of rapidly growing vascular tumour, thrombocytopenia, microangiopathic haemolytic anaemia and consumptive coagulopathy. The blood clotting disorder results from platelets and other clotting factors of the blood being used up within the tumor
The diagnosis of sickle cell disease can be confirmed with […].
The diagnosis of sickle cell disease can be confirmed with hemoglobin electrophoresis.
The symptoms of Wiskott-Aldrich syndrome may be remembered with the mnemonic “WATER”:
W: Wiskott
A: Aldrich
T: […]
E: Eczema
R: Recurrent (pyogenic) infections
The symptoms of Wiskott-Aldrich syndrome may be remembered with the mnemonic “WATER”:
W: Wiskott
A: Aldrich
T: Thrombocytopenia (fewer and smaller platelets)
E: Eczema
R: Recurrent (pyogenic) infections
The symptoms of Wiskott-Aldrich syndrome may be remembered with the mnemonic “WATER”:
W: Wiskott
A: Aldrich
T: Thrombocytopenia (fewer and smaller platelets)
E: […]
R: Recurrent (pyogenic) infections
W: Wiskott
A: Aldrich
T: Thrombocytopenia (fewer and smaller platelets)
E: Eczema
R: Recurrent (pyogenic) infections
The symptoms of Wiskott-Aldrich syndrome may be remembered with the mnemonic “WATER”:
W: Wiskott
A: Aldrich
T: Thrombocytopenia (fewer and smaller platelets)
E: Eczema
R: […]
W: Wiskott
A: Aldrich
T: Thrombocytopenia (fewer and smaller platelets)
E: Eczema
R: Recurrent (pyogenic) infections
What bone tumor is characterized by a “sunburst” pattern and Codman triangle on X-ray?
Osteosarcoma
typically presents with pain and soft-tissue swelling without systemic symptoms
What demographic (age group) is most commonly associated with acute lymphoblastic leukemia (ALL)?
Children
versus AML, which typically arises in older adults
What demographic (age group) is most commonly associated with acute myeloid leukemia (AML)?
Older adults (median onset is 65 years old)
versus ALL, which typically arises in children
What finding on blood smear is strongly suggestive of physical or functional hyposplenism (e.g. splenectomy)?
Howell-Jolly bodies
fragments of nuclear materials in RBCs that may be seen with Wright stain; normally removed by splenic macrophages
What hematologic pathology is characterized by normocytic anemia with a low reticulocyte count in preterm infants?
Anemia of prematurity
due to diminished EPO levels, short RBC life span, and frequent phlebotomy in the NICU; diagnosis of exclusion
What hematologic pathology is characterized by profound hypocellularity with fatty infiltration on bone marrow biopsy?
Aplastic anemia
What hematologic pathology is characterized by thrombocytopenia, MAHA, and acute renal failure following a diarrheal illness?
Hemolytic uremic syndrome
typically due to endothelial damage by drugs or infection; similar clinical presentation to TTP
What inclusion body is often found inside the RBCs of patients with G6PD deficiency?
Heinz bodies
visible on peripheral smear after using a crystal violet dye
What inherited hematologic pathology is associated with an increased MCHC?
Hereditary spherocytosis
i.e. mean corpuscular hemoglobin concentration; elevated due to loss of RBC surface area
What inherited hematologic pathology is associated with avascular necrosis (osteonecrosis)?
Sickle cell disease
patients typically present with chronic pain without signs of inflammation (e.g. warmth, erythema, leukocytosis, elevated ESR)
What is the dose-limiting side effect of hydroxyurea?
Myelosuppression
e.g. neutropenia, anemia, thrombocytopenia
What is the likely diagnosis in a 5-day-old baby that did not receive perinatal care and presents with easy bruisability with an elevated prothrombin time?
Vitamin K-deficient bleeding
previously known as hemorrhagic disease of the newborn; deficiency occurs due to combination of poor placental transfer, absent gut flora, immature liver function, and inadequate levels of vitamin K in breast milk
What is the likely diagnosis in a child that presents with bitemporal hemianopsia and diabetes insipidus with calcified pituitary mass on imaging?
Craniopharyngioma
What is the likely diagnosis in a child that presents with scattered petechiae with isolated thrombocytopenia and enlarged platelets following a viral infection?
Immune thrombocytopenia (ITP)
most common occurs in children age 2 - 5 following a viral infection
What is the likely diagnosis in a child that presents with short stature, hypoplastic thumbs, and aplastic, macrocytic anemia?
Fanconi anemia
What is the likely diagnosis in a child with a family history of anemia that presents with Coombs-negative hemolytic anemia, jaundice, and splenomegaly?
Hereditary spherocytosis
What is the likely diagnosis in a child with a history of sickle cell disease that presents with acute, severe anemia in the setting of a low reticulocyte count and no hepatosplenomegaly?
Aplastic crisis
characterized by a sudden halt in RBC production (not hemolysis); lack of pancytopenia differentiates aplastic crisis from aplastic anemia
What is the likely diagnosis in a child with a history of sickle cell disease that presents with hypovolemic shock in the setting of LUQ tenderness and splenomegaly?
Splenic sequestration
hypovolemic shock occurs due to pooling of RBCs within the spleen
What is the likely diagnosis in a well-appearing child that presents with a microcytic, hypochromic anemia with normal RBC count and RDW?
Thalassemia minor
normal RBC count and RDW help distinguish thalassemia from iron deficiency anemia (low RBC count with high RDW)
What is the likely diagnosis in an adolescent with a history of hemophilia A that presents with gradually worsening pain and limited motion of his knee?
Hemophilic arthropathy
due to hemosiderin deposition leading to synovitis and fibrosis within the joint; risk is significantly reduced with prophylactic factor concentrates
What is the likely diagnosis in an African American infant that presents with symmetric swelling/tenderness of the bilateral hands and feet?
Dactylitis (secondary to sickle cell disease)
also known as hand-foot syndrome; usually presents between 6 months to 4 years of age
What is the most common cause of pediatric stroke?
Sickle cell disease
What is the most common complication of sickle cell trait?
Painless hematuria (microscopic or gross)
due to sickling in the renal medulla; isosthenuria (inability to concentrate urine) is common as well, and manifests as nocturia and polyuria
What is the most common trigger of aplastic crisis in patients with sickle cell disease?
Parvovirus B19 infection
What is the next step in management for a child with suspected immune thrombocytopenia that presents with mucosal bleeding?
IVIg or corticosteroids
What is the next step in management for a child with suspected immune thrombocytopenia that presents with scattered petechiae throughout the body?
Observation
in children with ITP, skin manifestations require observation regardless of platelet count, as ITP is generally self-limiting
What is the recommended treatment for symptomatic neonates with polycythemia (e.g. respiratory distress, hypoglycemia)?
Partial exchange transfusion
blood is removed in exchange for normal saline to normalize the hematocrit; asymptomatic infants may be managed with rehydration (e.g. feeding, parenteral fluids)
What is the treatment for severe or refractory hereditary spherocytosis?
Splenectomy
most cases can be managed with supportive care (e.g. folic acid supplementation, blood transfusions as needed)
What non-megaloblastic macrocytic anemia presents with rapid-onset anemia within the 1st year of life?
Diamond-Blackfan anemia (also known as congenital pure red cell aplasia or congenital hypoplastic anemia)
due to intrinsic defect in erythroid progenitor cells with normal WBC and platelet counts; patients may have other abnormalities including triphalangeal thumbs
Which coagulation disorder presents with hemarthroses, easy bruising, and bleeding after surgery?
Hemophilia
clinical severity depends on degree of deficiency
Wiskott-Aldrich syndrome is characterized by inability for leukocytes and platelets to reorganize their […] cytoskeleton.
Wiskott-Aldrich syndrome is characterized by inability for leukocytes and platelets to reorganize their actin cytoskeleton.
results in defective antigen presentation
Hemolytic uremic syndrome is classically seen in children with […] dysentery, which results from exposure to undercooked beef.
Hemolytic uremic syndrome is classically seen in children with E. coli O157:H7 dysentery, which results from exposure to undercooked beef.
Shiga toxin induces endothelial damage in renal glomeruli, causing platelet activation with microthrombi formation and microangiopathic hemolytic anemia (MAHA)
Hereditary spherocytosis is diagnosed by the […] test in combination with eosin-5-maleimide binding test (flow cytometry).
Hereditary spherocytosis is diagnosed by the acidified glycerol lysis fragility test in combination with eosin-5-maleimide binding test (flow cytometry).
reveals increased spherocyte fragility in hypotonic solution
[…] is diagnosed by the acidified glycerol lysis fragility test in combination with eosin-5-maleimide binding test (flow cytometry).
Hereditary spherocytosis is diagnosed by the acidified glycerol lysis fragility test in combination with eosin-5-maleimide binding test (flow cytometry).
reveals increased spherocyte fragility in hypotonic solution
Hydroxyurea is useful in the treatment of sickle cell anemia because it increases levels of […] (typically greater than 15%).
Hydroxyurea is useful in the treatment of sickle cell anemia because it increases levels of HbF (typically greater than 15%).
increased HbF dilutes the amount of HbS, thus decreasing pain crises, the need for transfusions, and episodes of acute chest syndrome
[…] is useful in the treatment of sickle cell anemia because it increases levels of HbF (typically greater than 15%).
Hydroxyurea is useful in the treatment of sickle cell anemia because it increases levels of HbF (typically greater than 15%).
increased HbF dilutes the amount of HbS, thus decreasing pain crises, the need for transfusions, and episodes of acute chest syndrome
Ewing sarcoma arises in the […] of long bones; other locations include pelvis, scapula, and ribs.
Ewing sarcoma arises in the diaphysis of long bones; other locations include pelvis, scapula, and ribs.
Giant cell tumor arises in the […] of long bones, often in the knee region.
Giant cell tumor arises in the epiphysis of long bones, often in the knee region.
Giant cell tumor is associated with a “[…]” appearance on X-ray.
Giant cell tumor is associated with a “soap bubble” appearance on X-ray.
Hemophilia A is a coagulation disorder due to a genetic factor […] deficiency.
Hemophilia A is a coagulation disorder due to a genetic factor VIII deficiency.
Hemophilia B (Christmas disease) is a coagulation disorder due to a genetic factor […] deficiency.
Hemophilia B (Christmas disease) is a coagulation disorder due to a genetic factor IX deficiency.
Imaging of osteosarcoma may reveal a “[…]” pattern on X-ray.
Imaging of osteosarcoma may reveal a “sunburst” pattern on X-ray.
Imaging of osteosarcoma may reveal elevation of periosteum, which is known as […].
Imaging of osteosarcoma may reveal elevation of periosteum, which is known as Codman triangle.
Impaired division of granulocytic precursors in megaloblastic anemia leads to […] neutrophils.
Impaired division of granulocytic precursors in megaloblastic anemia leads to hypersegmented neutrophils.
e.g. folate and vitamin B12 deficiency
In addition to symptoms of anemia, iron deficiency also presents with […] and koilonychia (spoon nails).
In addition to symptoms of anemia, iron deficiency also presents with pica and koilonychia (spoon nails).
pica is the consumption of non-food substances; image shows koilonychia
In addition to symptoms of anemia, iron deficiency also presents with pica and […].
In addition to symptoms of anemia, iron deficiency also presents with pica and koilonychia (spoon nails).
pica is the consumption of non-food substances; image shows koilonychia
Osteochondroma arises as a lateral projection of the […].
Osteochondroma arises as a lateral projection of the growth plate (metaphysis).
Treatment of hemophilia A involves recombinant factor VIII or […]. (for mild cases)
Treatment of hemophilia A involves recombinant factor VIII or desmopressin. (for mild cases)
hemophilia B and C are treated similarly with recombinants to their respective factor deficiencies
What is the mode of inheritance of hemophilia A and B?
X-linked recessive
What tumor is associated with opsoclonus-myoclonus syndrome?
Neuroblastoma
sometimes referred to as “dancing eyes, dancing feet”
Which bone tumor arises in the epiphysis of long bones?
Giant cell tumor
[…] is a benign bone tumor with an overlying cartilage cap.
Osteochondroma is a benign bone tumor with an overlying cartilage cap.
Fanconi anemia is associated with short stature, café au lait spots, and malformed forearms and/or […].
Fanconi anemia is associated with short stature, café au lait spots, and malformed forearms and/or thumbs.
[…] anemia is associated with short stature, café au lait spots, and malformed forearms and/or thumbs.
Fanconi anemia is associated with short stature, café au lait spots, and malformed forearms and/or thumbs.
What is inhibitor development in Factor VII deficiency?
People with hemophilia, and many with VWD type 3, use treatment products called clotting factor concentrates (“factor”). These treatment products improve blood clotting, and they are used to stop or prevent a bleeding episode. When a person develops an inhibitor, the body stops accepting the factor treatment product as a normal part of blood. The body thinks the factor is a foreign substance and tries to destroy it with an inhibitor. The inhibitor keeps the treatment from working which makes it more difficult to stop a bleeding episode. A person who develops an inhibitor will require special treatment until their body stops making inhibitors. Inhibitors most often appear during the first 50 times a person is treated with clotting factor concentrates, but they can appear at any time.
- prolonged PTT
- normal PT
