Heme/Onc Flashcards
What is the incidence of febrile transfusion reactions?
1% for pRBC and 10% for platelet transfusions
Diagnostic criteria of CVID:
1.) decrease of more than 2 standard deviations of one immunoglobulin below the mean, 2.) poor antibody response to protein and polysaccharide vaccines 3.) exclusion of other causes of hypogammaglobulin
Kostmass syndrome or Familial severe neutropenia
ANC is usually <200, associated moncytosis and eosinophilia. Children with early death and severe bacterial infections. Stem cell transplant is curative
Schwachman-Diamond
AR. neutropenia, exocrine pancreas failure, short stature, metaphyseal dysostoses.
diagnosis and treatment of LAD deficiency
diagnosis by flow cytometry. treatment with BMT. Lifespan of 2 years without it
Job syndrome
characteristic facies, hyperextensible joints, osteopenia, scoliosis, elevated IGe, cold abscesses - usually staph. pneumonia with pneumatocele. Txment - should be on bactrim prophy
Chediak-Higashi
AR, partial albinism, giant lysosomes in all granulocytes, NK cell dysfunction, neurologic decline. Get bad EBV infections
Evans syndrome
AIHA and ITP
TAR syndrome
presents in neonatal period with bleeding. Severe thrombocytopenia. No megakaryocytes in bone marrow. Newborns have no radii, but thumbs are normal. Most survive, and plt counts improve over time.
Bernard-Soulier Syndrome
mild thrombocytopenia and giant abnormal platelets that do not aggregate in response to ristocetin, but do aggregate in response to ADP, epi, collagen. Prolonged bleeding time. Deficiency of glycoprotein Ib in the platelet membrane - can’t aggregate. Severe mucocutaneous bleeding in infancy
Glanzmann Thrombasthenia
AR with normal platelet counts and poor platelet aggreg that does not respond to ADP, epi, collagen
short stature, abnormal radii and thumbs, microcephaly, cafe-au lait spots, renal anomalies. 15% risk of developing AML
Fanconi syndrome
Diamond Blackfan anemia
Macrocytic anemia and reticulocytopenia. Can have associated thumb abnormalities, short stature, glaucoma, renal anomalies, hypogonadism, short, webbed necks, CHD and intellectual disabililty.
How do you treat the anemia of diamond blackfan?
80% respond to steroids
What pathway does PT measure?
extrinsic
What pathway does PTT measure
intrinsic and common pathways
whats a normal bleeding time?
<10min
What would cause prolonged PT, but normal PTT
FVII def, liver disease, warfarin
What would cause prolonged PTT, but normal PT
heparin or problem with factors XII, XI, IX, VIII (hemophilia)
Both PTT and PT are prolonged
multiple factor deficiencies, problem in common pathway, liver disease, DIC
Both PT and PTT are normal with increased bleeding
FXIII deficiency
Factor XII deficiency
PTT very prolonged and PT normal, decreased FXII. Do not clinically have a bleeding disorder and can undergo surgery
What are the naturally occuring anticoagulants
Protein C, s, antithrombinq
Which conditions are associated with ALL?
down syndrome, Bloom syndrome, ataxia-telangestasia, fanconi anemia, neurofibromatosis
What percent blasts need to be in BM for diagnosis of ALL?
25%
Which factors portend a worse prognosis in ALL
age <1 or >10, presence of Phil Chr 9, 22 or {4,11}. WBC ct>50K on presentation, mature B cell or t cell, african american or hispanic ethnicity
Side effects of 6-MP
myelosuppression and hepatotoxicity
side effects of L asparaginase
pancreatitis, increased glucose, thrombosis
side effect of etoposide
2ndary leukemias
cisplatin side effects
nephrotoxic, ototoxic, neurotoxic
WAGR syndrome
wilms tumor, aniridia, GU abnormalities, intellectual disability
Denys drash
wilms tumor, nephropathy, hemihermaphrodism
PArinaud syndrome
upward gaze impairment, dialted pupils with better reactivity to accomodation than to light, retraction or conversion nystagmus with lid retraction - seen with pineal tumors
what is the youngest age typically do brain radiation?
3yo
Tumor markers of choriocarcinoma
(-) AFP, (+) BHcg
Tumor markers of germinoma (seminoma or dysgerminoma)
(-) AFP, (-) BHcg
Tumor markers of embryonal carcinoma
(+) AFP, (+) BHcg
Tumore markers of yolk sac tumor
(+) AFP, (-) BHcg
What do Leydig cell tumors produce?
androgens
What do Sertoli cell tumors produce
estrogens
A child under the age of 6 months with multiple liver lesions and a normal AFP most likely has
hemangioendothelioma
what age is hepatoblastoma most likely in
<3
Can hepatocellular carcinoma cause increased AFP
yes. 50% do
hemangioendothelioma
most common benign liver lesion of childhood. no biopsy necessary. solid lesions can be resected if necessary. If unresectable or consumption coagulopathy is present, treat with steroids
In which conditions are astrocytomas associated?
neurofibromatosis type 1 or tuberous sclerosis
In which conditions is leukemia associated
Fanconi anemia, ataxia-telangiectasia, Bloom syndrome, and trisomy 21.
In which conditions is neuroblastoma associated?
Neuroblastoma can be seen in hereditary neuroblastoma because of ALK gene mutations, neurofibromatosis type 1, central congenital hypoventilation syndrome due to PHOX2b gene mutations, and Hirschsprung disease
What does leukoreduction of blood do?
reduced the PMNs in blood (not lymphocytes). These usualyl cause cytokine release and decrease risk of febrile reaction
What does irradiation do?
decreased lymphocytes that can cause GVHD in immunocompromised patients.
