STEP 2 Heme/Onc Flashcards
NF-1 features (inheritance, chromosome, clinical)
AD - von Recklinghausen dz
Chromosome 17 neurofibromin
cafe-au-lait spots, iris hamartomas (Lisch nodules), neurofibromas (peripheral nerve sheath tumors - optic pathway), +brain tumor incidence
NF-2 features (inheritance, chromosome, clinical)
AD - central neurofibromatosis - MISME
Chromosome 22 merlin
Bilateral acoustic schwannomas, meningiomas, schwannomas
TS complex (inheritance, chromosome, clinical)
AD - TSC1/TSC2
hamartin/tuberin chr 9/16
Cortical {tubers, hamartomas, subependymal giant cell astrocytomas}, ash leaf spots, angiofibromas, renal angioleiomyomas, MR, seizures
Non-beta-cell tumors?
Large mesenchymal tumors
Produce IGF-II (no c-peptide or insulin)
Transfusion reactions: nonhemolytic - mechanism, onset, sx, tx
nonhemolytic febrile (most common): cytokine formation during storage
- 1-6hrs
- fevers, chills, etc
- stop transfusion give tylenol
TRALI: donor anti-leukocyte abx (usu. from preg.)
- 0-6hrs
- noncardiogenic pulmonary edema, bilateral infiltrates on CXR
- stop transfusion, resp support
allergic: reaction to donor proteins
- IgA deficient recipient -> +anaphylaxis risk
- seconds to minutes
- urticaria (minor), anaphylaxis (airway edema, hypotn - severe)
- antihistamines. if severe, stop transfusion, give IM epi, glucocorticoids, antihistamines, use washed RBCs and IgA free plasma next time
primary hypotensive: donor bradykinin
- incr risk if on ACEI
- within minutes
von Hippel Lindau features?
phakomatosis FAMILY HISTORY (AD) hemangioblastomas RCC pheos
Sturge-Weber features?
phakomatosis - somatic mutation in GNAQ gene
NOT HERITABLE
port wine stain over trigeminal nerve territory
MR
seizures
visual impairment
McCune-Albright features?
mosaic in cAMP-kinase gene 3 P's: polyostotic fibrous dysplasia precocious puberty pigmentation (irregular border cafe au lait)
HIT type 1 vs type 2
type I: drop in plt via direct action of heparin on plt. Normalizes w/in 2 days. type II: anti-PF4 complex abx vs plts plt drop > 50% nadir 30-60 5-10days arterial and venous thrombosis
thal minor vs iron deficiency anemia
thal minor: nl RDW, nl RBCs, target cells
fe deficiency anemia: high RDW, low RBCs
Smear findings: howell-jolly bodies?
Remnant of RBC nucleus.
Seen in cases of functional asplenia (eg sicklers) or splenectomy
Helmet cells?
microangiopathy (DIC, HUS, TTP)
Basophilic stippling?
Ribosomal precipitates (blue granules in cytoplasm) seen in thalassemias and heavy metal poisoning
Heinz bodies?
aggregates of denatured Hgb
seen in G6PD and thalassemia
accompanied by bite cells (when macrophages bite them off)
Transfusion reaction: hemolytic
acute hemolytic: ABO incompatibility, 1-hr timescale
-fever, chills, flank pain, renal failure, DIC
-pink plasma, +Coombs
delayed hemolytic: anamnestic response 2-10d
- +direct coombs
Thyroid cancers (4)
medullary: secretes calcitonin, MEN2A/B
papillary: orphan annie-eyes, psammoma bodies, unencapsulated, good prognosis, most common
follicular: early hematogenous spread, encapsulated, carcinoma invades
anaplastic: you’re screwed
trastuzumab tox?
cardiac, get an echo
classic triad for brain abscess
risk factors for brain abscess
fever, nocturnal or morning headaches, focal deficit, +- seizure
sinus, dental infx, otitis media/mastoiditis
cyanotic congenital heart dz (R->L shunt)
glucagonoma: what does NEC look like?
is there DM?
NEC - erythematous plaques with eroded borders and central clearing
DM is mild
mediastinal masses - anterior, middle, posterior
anterior: 5T’s
- thyroid (retrosternal)
- thymus
- thoracic aorta
- terrible lymphoma
- teratoma
middle:
- bronchogenic cyst
posterior:
- esophageal leiomyoma
- neuroblastoma