Ch. 26: Bones, Joints, ST

Question 1

gain FGFR3

Answer 1

Achondroplasia, Thanatothrophic

Question 2

COL1A1, COL1A2

Answer 2

Osteogenesis Imperfecta

Question 3

Blue Sclera, Dental Imperfections, Hearing Loss

Answer 3

Ost. Imp. (Type 2 = lethal)

Question 4

CA2, CLCN7; low acidification

Answer 4

Osteopetrosis

Question 5

SQSTM1, gain RANK, loss OPG

Answer 5

Paget Dz

Question 6

Mosaic Pattern, Lion facies, Chalk Stick Fx, Heart failure, Osteosarcoma, high ALP

Answer 6

Paget Dz

Question 7

Frontal Bossing, Bowed legs, Short Stature, Rachitic Rosary, decr. mineralization

Answer 7

Rickets

Question 8

Brodie Abscess

Answer 8

Osteomyelitis

Question 9

Saber Shin, Spirochetes, Gummas, Edematous granulation

Answer 9

Syphilis

Question 10

SMALL, nocturnal pain, relieved by NSAIDs; middle lucency (nidus) surrounded by sclerosis (Metaphysis of long bone)

Answer 10

Osteoid Osteoma

Question 11

Osteoma + FAP (GI) + Retroperitoneal Fibrosis

Answer 11

Gardner Syndrome

Question 12

LARGE, vertebral column, NOT responsive to NSAIDs

Answer 12

Osteoblastoma

Question 13

Bimodal Tumor; RB, TP53, INK4a, MDM2, CDK4; Codman triangle; sunburst; pleomorphic cells in fine lace-like pattern

Answer 13

Osteosarcoma

Question 14

EXT1/EXT2; Exostosis

Answer 14

Osteochondroma

Question 15

IDH1/2

Answer 15

Enchondroma

Question 16

Chr. 17p13 (USP6)

Answer 16

Aneurysmal Bone Cyst

Question 17

Eccentric; banal fibroblasts; storiform pattern

Answer 17

Fibrous Cortical Defect

Question 18

GNAS

Answer 18

McCune-Albright (polyostotic, Fibrous Dysplasia, precocious puberty)

Question 19

HLA-DR4, RF, CCP, ANA

Answer 19

RA

Question 20

HLA, ANA, PTPN22, NO RF

Answer 20

Juvenile Idiopathic Arth

Question 21

HLA-B27

Answer 21

Seronegative Arthropathies

Question 22

HLA-B27, HLA-Cw6

Answer 22

Psoriatic Arthritis

Question 23

HGPRT, URAT1, GLUT1

Answer 23

Gout

Question 24

gain M-CSF via t(1;2) or (p13;q37)

Answer 24

Tenosynovial Giant Cell Tumor

Question 25

MDM2

Answer 25

Lipsarcoma

Question 26

t(17;22) w/ Hx of trauma

Answer 26

Nodular Fasciitis

Question 27

APC, Beta-Catenin

Answer 27

Desmoid Tumors

Question 28

t(X;18)

Answer 28

Synovial Sarcoma