Oite

Front 1

associated with painful scoliosis?

Back 1

osteoid osteoma

Front 2

pain with osteoid osteoma attributed to?

Back 2

increased prostaglandin E2 and COX 1/2 expression

Front 3

Rothmund Thomson syndrome

Back 3

- AR inheritance

- mutation in RECQL4 gene, chr 8q24.3

- sun-sensitive facial poikiloderma rash

- increased risk of osteosarcoma, fibrosarcoma, gastric adenocarcinoma, cutaneous BCC/SCC

Front 4

gene associated with osteosarcoma

Back 4

retinoblastoma tumor suppressor gene (Rb): predisposed to osteosarcoma

Front 5

chromosome findings with parosteal osteosarcoma

Back 5

high rate MDM2 amplification and ring chromosome

Front 6

mutation in periosteal osteosarcoma

Back 6

germ-line mutation of p53 in 15-20% of cases

Front 7

telangiectatic osteosarcoma associated with the following mutations:

Back 7

Rb-1

p53

HER2/neu

c-myc

c-fos

Front 8

enchondroma is caused by?

Back 8

abnormality of chondroblast function in the physis

Front 9

Ollie's disease

Back 9

- sporadic inheritance

- skeletal dysplasia with failure of normal endochondral ossification

- enchondromas throughout the metaphysis and diaphysis of long bones, causes shortening and bowing

- risk of malignant transformation <30%

Front 10

multiple enchondromatosis also known as:

Back 10

Ollie's disease

Front 11

Maffucci's syndrome

Back 11

- sporadic inheritance

- multiple enchondromas and soft-tissue angiomas

- risk of malignant transformation 100%

- increased risk of visceral malignancies (astrocytoma, GI malignancy)

Front 12

malignant transformation of osteochondroma?

Back 12

secondary chondrosarcoma

<1% in solitary osteochondroma

5-10% in MHE

Front 13

multiple hereditary exostosis

Back 13

- multiple osteochondromas

- autosomal dominant

- mutation in EXT1, EXT2, EXT3 genes

- EXT1 mutation have more severe presentation

Front 14

EXT1, EXT2, EXT3 genes associated with?

Back 14

multiple hereditary exostosis

they are tumor suppressor genes

Front 15

location of chondroblastoma?

Back 15

epiphyseal, occasionally cross the physis

Front 16

genetic mutations with chondroblastoma

Back 16

genetic abnormalities on chromosome 5 and 8

Front 17

benign lesions that can have pulmonary metastasis?

Back 17

chrondroblastoma

giant cell tumor

Front 18

chondromyxoid fibroma genetic mutation

Back 18

genetic rearrangement may affect chromosome 6 (position q13)

Front 19

secondary chondrosarcoma may arise from?

Back 19

osteochondroma (<1% risk)

MHE (1-10% risk)

enchondroma (1% risk)

Ollier's disease (25-40% risk)

Maffucci's (100%)

Front 20

clear cell chondrosarcoma

Back 20

- malignant immature cartilaginous tumor accounting for <2% of all chondrosarcomas

- epiphyseal lesion, can be mistaken for low-grade chondroblastoma

- locally destructive with potential to metastasize

Front 21

mesenchymal chondrosarcoma

Back 21

- chondrosarcoma variant which presents with a biphasic pattern of neoplastic cartilage with associated neoplastic small round blue cell component

- may occur at several discontinuous sites at presentation and can occur in the soft tissues

- treatment includes net-adjuvant chemotherapy followed by wide surgical resection

Front 22

lymphoma stain characteristics

Back 22

CD20 positive

CD45 positive

lymphocyte common antigen positive

Front 23

prior names for non-ossifying fibroma

Back 23

metaphyseal fibrous defect

nonosteogenic fibroma

cortical desmoid

fibromatosis

xanthoma

Front 24

how differentiate chordoma from chondrosarcoma?

Back 24

keratin positive in chordoma

Front 25

chordoma stain

Back 25

keratin positive

weakly S100 positive

Front 26

cell level cause of primary aneurysmal bone cyst

Back 26

up regulation of ubiquitin-specific protease USP6 (Tre2) gene on 17p13 when combined with translocation with a promoter pairing - most commonly described is translocation t(16;17)(q22;p13)

Front 27

genetic cause of fibrous dysplasia

Back 27

- GS alpha protein activating mutation

- chromosome 20q13

- cAMP signaling pathway affected leading to increase cAMP

Front 28

McCune Albright syndrome

Back 28

defined by presence of:

- skin abnormalities (cafe au last spots in coast of Maine pattern)

- endocrine abnormalities (precocious puberty and renal phosphate wasting)

- unilateral polyostotic fibrous dysplasia

Front 29

Mazabraud syndrome

Back 29

polyostotic fibrous dysplasia

soft tissue intramuscular myxomas

Front 30

osteofibrous dysplasia

Back 30

rare form of fibrous dysplasia that affects the tibia and is confined to the cortices

Front 31

fibrous dysplasia risk for malignant transformation?

Back 31

1% to osteosarcoma, fibrosarcoma, or malignant fibrous histiocytoma

Front 32

osteofibrous dysplasia is also known as

Back 32

ossifying fibroma

Campanacci lesion

Front 33

osteofibrous dysplasia genetics

Back 33

trisomy 7, 8, 12, 22 have been reported

does not have Gs alpha activating mutation

Front 34

Paget's disease

Back 34

abnormal bone remodeling due to increased osteoclastic bone resorption

Front 35

Paget's disease mutation

Back 35

SQSTM1 (p62/Sepquestosome)

Front 36

laboratory findings with Paget's

Back 36

- elevated alk phos

- elevated urine hydroxyproline

- increased urine N-telopeptide, a-C-telopeptide, deoxypyridinoline

- normal Ca