Pathology

Question 1

caused by mutation in the DTD gene which leads to a defect in the sulfate transport protein

Answer 1

Diastrophic Displasia

Question 2

mutation in the CBFA1 gene, which leads to a defect in intramembranous ossification

Answer 2

Cleidocranial Dysostosis

Question 3

COL1A1 and COL1A2 mutation , which leads to a defect in Type I collagen
COPY

Answer 3

Osteogenesis Imperfecta

Question 4

FGFR3 gene, that leads to abnormal chondroid production by chondroblasts

Answer 4

Achondroplasia

Question 5

mutation in the GNAS and GS alpha protein, which increases cAMP

Answer 5

Fibrous Dysplasia

Question 6

dermatologic abnormalities, endocrine abnormalities (precocious puberty frequently) and polyostotic fibrous dysplasia. Consistent with this condition are café-au-lait spots that have jagged borders, akin to the “Coast of Maine”.

Answer 6

McCune Albright (MAS)- GNAS gene

Question 7

Staging for a presumed primary bone sarcoma in an adolescent includes:

Answer 7

evaluation of the chest with a CT scan to screen the site of most common hematogenous spread of disease.

MR imaging of the entire involved bone is necessary to evaluate lesion size and its compartmentalization and location with respect to vital structures.

Bone is the second-most-common area at which osteosarcoma can spread, and a whole-body bone scan is critical for initial staging.

Question 8

The 3 most common benign tumors of the foot are

Answer 8

ganglion cysts, giant-cell tumors of tendon sheath, and hemangiomas

Question 9

t(X;18), which results in the fusion protein SS18-SSX.

Answer 9

Synovial Sarcoma

Question 10

Synovial Sarcoma Gene translocation

Answer 10

t(X;18), which results in the fusion protein SS18-SSX.

Question 11

. t(11;12)

Answer 11

Ewing Sarcoma

Question 12

T(9;22) is seen in

Answer 12

Extra-skeletal Myxoid Chrondrosarcoma

Question 13

t(12;16) is seen in

Answer 13

Myxoid Liposarcoma

Question 14

inborn abnormality of phosphorus metabolism

FGF-23 defect leading

Answer 14

Familial Hyperphosphatemic Calcinosis

Question 15

Ewings Sarcoma translocation

Answer 15

t(11:22) translocation

Question 16

fusion protein in Ewings Sarcoma

Answer 16

EWS-FL1

Question 17

FOB fibrodysplasia ossificans progressiva gene

Answer 17

STONE mans syndrome

ACVR1 Gene

Question 18

GNAS mutation

Answer 18

McCune allrbight, poly ostotic fibrous dysplasia

Question 19

fibrous dysplasia histology

Answer 19

chinese letters, can transfer to osteosarc

Question 20

Which EXT is more aggressive

Answer 20

Type 1

Type 3 is more benign

Question 21

most common sarcoma of the hand

Answer 21

epithelioid

Question 22

IDH mutation

Answer 22

maffuci syndrome

Question 23

FGF32 gain of function mutation causes

Answer 23

AD hypophosphatemic rickets

Question 24

FGF23 loss of function mutation

Answer 24

familial hyperphosphatemic tumor calcinosis