Tumors

Question 1

what are the benign bone tumors?

Answer 1

osteochondroma
chondroma
osteoid osteoma
osteoblastoma
giant cell tumors
aneurysmal bone cyst

Question 2

what is the most common benign bone tumor?

Answer 2

osteochondroma

Question 3

describe osteochondroma

Answer 3

benign tumors that arise in early adulthood

men > women

location: metaphysis near growth plate of tubular bone

hereditary tumors are AD and may progress to osteosarcoma

Question 4

what gene is associated with osteochondroma?

Answer 4

EXT1 or EXT2

encode heparin sulfate glycosaminoglycans

Question 5

describe chondromas

Answer 5

benign hyaline cartilage, solitary metaphyseal lesion

20-50 y/o

may be within medullary cavity (enchondroma)

blue/grey and translucent

Question 6

what syndromes are associated with chondromas?

Answer 6

Ollier syndrome

Maffucci syndrome: chondromas + angiomas

Question 7

what gene is associated with chondromas?

Answer 7

IDH1 and IDH2

Question 8

describe chondrosarcomas

Answer 8

malignant tumor that may arise de novo or from preexisting osteochondroma or enchondroma

M > F

40 y/o +

axial skeleton (pelvis, shoulders, ribs)

painful and may metastasize

Question 9

what genes are associated with chondrosarcomas?

Answer 9

EXT gene

IDH gene

Question 10

what causes osteoid osteoma?

Answer 10

excess prostaglandin E2 production by osteoblasts

Question 11

describe osteoid osteomas

Answer 11

less than 2 cm painful mass

appendicular skeleton

young men, teens and 20s

Question 12

what will you see on XR with osteoid osteoma?

Answer 12

thick rind of reactive cortical bone

Question 13

what will be seen on histo with osteoid osteoma?

Answer 13

haphazardly interconnecting trabeculae of woven bone that are rimmed by prominent osteoblasts

Question 14

what is the treatment for osteoid osteoma?

Answer 14

radiofrequency ablation

responsive to ASA and NSAIDs

Question 15

you see a XR of a lesion within the spine that is >2cm without bony reaction. the patient says he has an achy pain that doesn’t respond to ASA. what do you suspect?

Answer 15

osteoblastoma

Question 16

what is the most common malignant tumor of bone?

Answer 16

osteosarcoma

Question 17

what is the classic presentation of osteosarcomas?

Answer 17

young male with painful, enlarging mass around the knee

Question 18

who is at risk for developing osteosarcoma?

Answer 18

older males with Pagets

people who have previously had radiation

Question 19

what genes are associated with osteosarcoma?

Answer 19

Rb - sporadic osteo
TP53 - Le Fraumani syndrome
INK4a
MDM2 and CDK4

Question 20

what will be seen on XR with osteosarcoma?

Answer 20

mixed lytic and blastic mass

*Codman triangle - elevation of the periosteum

Question 21

where is osteosarcoma most likely to metastasize?

Answer 21

lungs
other bones
brain

Question 22

what is the classic presentation for Ewing sarcoma?

Answer 22

white person <20 y/o with painful, tender, warm, swollen, enlarging mass with fever and increased ESR

*mimics infection!!

Question 23

what is seen on histo with Ewing sarcoma?

Answer 23

undifferentiated small blue round cell tumor

Question 24

what is seen on XR with Ewing sarcoma?

Answer 24

periosteal rxn - reactive bone with “onion skin”

seen in diaphysis of long bones and flat bones

Question 25

what is the gene and mutation associated with Ewing sarcoma?

Answer 25

EWS-FL11 fusion gene | t(11;22)(q24:q12)

Question 26

what is fibrous dysplasia?

Answer 26

benign proliferation of fibrous tissue and bone that do not mature monostotic is asymptomatic (70%) polyostotic has crippling deformities

Question 27

what is the typical presentation of fibrous dysplasia?

Answer 27

early adolescent child with incidental pain, fracture or discrepancy in limb length found in cranio facial bones, long bones, or ribs

Question 28

what will be seen on XR with fibrous dysplasia?

Answer 28

ground glass appearance with well defined margins

Question 29

what syndromes are associated with fibrous dysplasia?

Answer 29

McCune-Albright | Mazabraud syndrome

Question 30

what will be seen on histo with fibrous dysplasia?

Answer 30

curvilinear trabeculae described as "Chinese characters"

Question 31

describe giant cell tumor of bone

Answer 31

benign osteoclastoma multinucleated osteoclast-type giant cells arise in epiphyses in the knee tends to recur after removal

Question 32

what is the typical presentation of giant cell tumor?

Answer 32

20-40 y/o with arthritic knee symptoms

Question 33

what should also be on the differential when considering giant cell tumor?

Answer 33

brown tumor of hyperparathyroidism

Question 34

what is the most common form of skeletal malignancy?

Answer 34

metastatic tumors

Question 35

what is a lipoma?

Answer 35

benign tumor of adipose tissue most common soft tissue tumor of adults

Question 36

what is seen on histo in lipoma?

Answer 36

encapsulated mass of normal-appearing adipose tissue

Question 37

what is liposarcoma?

Answer 37

common malignant soft tissue tumor in adults occurs in deep soft tissue of proximal extremities and retroperitoneum recur unless completely excised

Question 38

what mutation is associated with liposarcoma?

Answer 38

12q13-q15 and t(12;16) MDM2 encoding p53

Question 39

what is seen on histo in liposarcoma?

Answer 39

well-differentiated myxoid round cell pleomorphic

Question 40

what is nodular fasciitis?

Answer 40

self-limited fibroblastic and myofibroblastic proliferation UE of young adults t(17;22) encoding MYH9-USP6 fusion gene

Question 41

what are the fibromatoses?

Answer 41

palmar - Dupuytren's contracture plantar penile - Peyronie disease

Question 42

what is deep fibromatosis?

Answer 42

desmoid tumor large, infiltrative painful tumor that frequently recurs occurs in women ages teens-30s APC or B-catenin genes

Question 43

who is predisposed to deep fibromatosis?

Answer 43

familial adenomatous polyposis (Gardner syndrome) with germline APC mutations

Question 44

what is seen on histo with nodular fasciitis?

Answer 44

stellate and spindle cells separated by collagen bundles

Question 45

what is fibrosarcoma

Answer 45

malignant, deep-seated, slow-growing tumor in thigh or trunk in children: arises in extremities

Question 46

what is seen on histo in fibrosarcoma?

Answer 46

uniform, spindled cells arranged in herringbone fascicles

Question 47

what is rhabdomyosarcoma?

Answer 47

malignant skeletal muscle tumor 3 types: alveolar embryonal (60%) pleomorphic

Question 48

what gene is associated with alveolar rhabdomyosarcoma?

Answer 48

fusion of FOX01 to either PAX3 or PAX7

Question 49

what forms of rhabdomyosarcoma arise in kids?

Answer 49

alveolar | embryonal

Question 50

what is seen on histo in embryonal rhabdomyosarcoma?

Answer 50

rhabdomyoblasts causing cross striations sarcoma botryoides causing cambium layer

Question 51

where is rhabdomyosarcoma likely to localize in kids?

Answer 51

sinuses head neck GU

Question 52

what is leiomyoma?

Answer 52

benign smooth muscle tumor most commonly found in the uterus

Question 53

what syndromes are associated with leiomyomas?

Answer 53

hereditary leiomyomatosis | renal cell cancer syndrome

Question 54

what is leiomyosarcoma?

Answer 54

malignant smooth muscle tumor found in adult woman can metastasize to the lungs

Question 55

what is synovial sarcoma?

Answer 55

malignant tumor adjacent to joint presents in 20s-40s can metastasize to lungs

Question 56

what is seen on histo in synovial sarcoma?

Answer 56

keratins epithelial cells spindle cells

Question 57

what is tuberous sclerosis complex?

Answer 57

AD mutation in TSC1 or TSC2 ``` hamartomas renal angiomyolipomas pulmonary lymphangioleiomyomatosis cardiac rhabdomyomas angiofibromas subungal fibromas ```

Question 58

what is von hippel-lindau disease?

Answer 58

AD mutation in VHL tumor suppressor gene hemangioblastomas of cerebellum and retina cysts of viscera RCC pheochromocytoma

Question 59

what is NF1?

Answer 59

``` AD mutation neurofibromas optic nerve gliomas lisch nodules cafe au lait spots ```

Question 60

what is NF2?

Answer 60

AD mutation bilateral schwannomas meningiomas ependymomas

Question 61

what are the peripheral nerve sheath tumors?

Answer 61

schwannoma neurofibroma malignant PNST