other 2

Question 1

Diamond-Blackfan presentation

Answer 1

1. short stature
2. craniofacial abnormalities
3. upper extremity malformations (triphalangeal thumbs) in 50%

Question 2

fancon anemia - presentation

Answer 2

aplastic anemia, increased risk for tumor/leukemia

• CAFE AU LAIT
• THUMB/RADIAL DEFECTS

Question 3

pleomorpic xanthoastrocytoma

Answer 3

astrocytoma of children + young adults –> rarely progress to GBM
histology: reticulin depositis + chronic inflammatory infiltrates

Question 4

podophylin

Answer 4

inhibits topoisomerase 2 –> treat genital warts

Question 5

causes and diagnosis of hemophagocytic lymphohistiocytosis

Answer 5

familiar (AR), 2ry to EBV

diagnosis: bone marrow –> macrophages engulfing RBCs

Question 6

1. SIS gene - ca
2. TGFA gene - ca
3. HER1 gene - ca

Answer 6

1. proto –> astrocytoma, osteosarcoma
2. proto –> astrocytoma, HCC
3. proto –> scc of lung

Question 7

mutated gene in paroxysmal nocturnal hemoglobinuria

Answer 7

phosphatidyloinositol glycan class A (PIGA gene) –> help on GPI

Question 8

chromosomal rearrangement of non-small cell lung ca

Answer 8

EML4-ALK –> constitutive active tyrosine kinase
Echinoderm mictorubule-associated protein like 4
Anaplastic lymphoma kinase

Question 9

MM cells are susceptible to

Answer 9

protease inhibition due to large proteins that they manufacture (BORTEZOMIB) –> apoptosis

Question 10

OKT3

Answer 10

monoclonal antibody against CD3

Question 11

embryonic hb

Answer 11

gower 1 ζ2ε2
protlant ζ2γ2
gower 2 α2ε2

Question 12

panitumumab?

Answer 12

like cetuximab

Question 13

patrier micro-abscess

Answer 13

by T cells infiltration in the skin (Mycoses fungoides)

Question 14

DLBCL markers

Answer 14

similar with CLL (including CD5+)