MISC QUESTIONS Flashcards
solid tumor that expresses myogenin on IHC
rhabdomyosarcoma
t(11;22)(p13;q12)
desmoplastic small round blue cell tumor
t(11;22)(q24;q12)
Ewings- EWS-FLR11- most common
t(21;22)(q22;q12)
ewings- ewer1- ERG (10%)
solid tumor with t(X;18)
synovial cell sarcoma fuses SSX gene with the SYT gene.
in synovial sarcoma, who needs radiation and chemo after surgery
larger than 5 cm, patients who have residual disease after surgical resection of primary tumors (margins are histologically positive for cancer cells), or patients with metastatic disease
What is - mutations in the MPL gene (1p34), resulting in complete loss of function in c-MPL
congenital amegakaryocytic thrombocytopenia
Prussian blue staining shows red cell precursors with Pappenheimer bodies. in a bone marrow is clue for
sideroblastic anemia
pathogenic germline mutation in the aminolevulinic acid synthase gene (Xp11.21
congenital X-linked sideroblastic anemia (XLSA) caused by a germline mutation in the ALAS2 gene, which leads to defective heme synthesi
vWF antigen to activity ratio of what indicates VWD type 2 A, B, or M
<0.7
what types of VWD will have abnormal VWF multimer tests
a and b
what types of type 2 VWD have abnormal collagen binding assays
2a and 2b
plt aggregation study results in ADP receptor defect
absent aggregation and secretion to adenosine diphosphate (ADP), in addition to decreased aggregation to other agonistsp
expected plt aggregation results in glanzmans
absent or decreased aggregation with all agonists except ristocetin.
defect- glanzmans
missing Gp2b3a
Bernard-Soulier syndrome platelet aggregation results
platelet aggregation is decreased in response to ristocetin in (deficiency of GPIb platelet receptor), but normal for other agonists.
expected results for In delta storage pool disease, plt aggretagion
platelet aggregation in response to ADP, epinephrine, and collagen lacks a secondary wave.
Secretory diarrhea caused by vasoactive intestinal peptide-secreting tumor is a rare paraneoplastic syndrome associated
neuroblastoma
severe hemophilia A- how often do you dose factor 8 for trophy
q4 weeks
in NAIT, what are the auto antibodies in white people
Alloantibodies against HPA-1a are predominant in Whites
in NAIT, what are the auto antibodies in Japanese people
HPA-4b
where is the hypermetylation in BWS
n chromosome 11p15.
RPS19
DBA
RNA component of the mitochondrial RNA-processing endoribonuclease (RMRP
CARTILAGE HAIR HYPOPLASIA
SBDS
SCHWACHMAN DIAMOND
TERT
DKC
