Tumors Flashcards
what are the benign bone tumors?
osteochondroma chondroma osteoid osteoma osteoblastoma giant cell tumors aneurysmal bone cyst
what is the most common benign bone tumor?
osteochondroma
describe osteochondroma
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
what gene is associated with osteochondroma?
EXT1 or EXT2
encode heparin sulfate glycosaminoglycans
describe chondromas
benign hyaline cartilage, solitary metaphyseal lesion
20-50 y/o
may be within medullary cavity (enchondroma)
blue/grey and translucent
what syndromes are associated with chondromas?
Ollier syndrome
Maffucci syndrome: chondromas + angiomas
what gene is associated with chondromas?
IDH1 and IDH2
describe chondrosarcomas
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
what genes are associated with chondrosarcomas?
EXT gene
IDH gene
what causes osteoid osteoma?
excess prostaglandin E2 production by osteoblasts
describe osteoid osteomas
less than 2 cm painful mass
appendicular skeleton
young men, teens and 20s
what will you see on XR with osteoid osteoma?
thick rind of reactive cortical bone
what will be seen on histo with osteoid osteoma?
haphazardly interconnecting trabeculae of woven bone that are rimmed by prominent osteoblasts
what is the treatment for osteoid osteoma?
radiofrequency ablation
responsive to ASA and NSAIDs
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?
osteoblastoma
what is the most common malignant tumor of bone?
osteosarcoma
what is the classic presentation of osteosarcomas?
young male with painful, enlarging mass around the knee
who is at risk for developing osteosarcoma?
older males with Pagets
people who have previously had radiation
what genes are associated with osteosarcoma?
Rb - sporadic osteo
TP53 - Le Fraumani syndrome
INK4a
MDM2 and CDK4
what will be seen on XR with osteosarcoma?
mixed lytic and blastic mass
*Codman triangle - elevation of the periosteum
where is osteosarcoma most likely to metastasize?
lungs
other bones
brain
what is the classic presentation for Ewing sarcoma?
white person <20 y/o with painful, tender, warm, swollen, enlarging mass with fever and increased ESR
*mimics infection!!
what is seen on histo with Ewing sarcoma?
undifferentiated small blue round cell tumor
what is seen on XR with Ewing sarcoma?
periosteal rxn - reactive bone with “onion skin”
seen in diaphysis of long bones and flat bones
what is the gene and mutation associated with Ewing sarcoma?
EWS-FL11 fusion gene
t(11;22)(q24:q12)
what is fibrous dysplasia?
benign proliferation of fibrous tissue and bone that do not mature
monostotic is asymptomatic (70%)
polyostotic has crippling deformities
what is the typical presentation of fibrous dysplasia?
early adolescent child with incidental pain, fracture or discrepancy in limb length
found in cranio facial bones, long bones, or ribs
what will be seen on XR with fibrous dysplasia?
ground glass appearance with well defined margins
what syndromes are associated with fibrous dysplasia?
McCune-Albright
Mazabraud syndrome
what will be seen on histo with fibrous dysplasia?
curvilinear trabeculae
described as “Chinese characters”
describe giant cell tumor of bone
benign osteoclastoma multinucleated osteoclast-type giant cells
arise in epiphyses in the knee
tends to recur after removal
what is the typical presentation of giant cell tumor?
20-40 y/o with arthritic knee symptoms
what should also be on the differential when considering giant cell tumor?
brown tumor of hyperparathyroidism
what is the most common form of skeletal malignancy?
metastatic tumors
what is a lipoma?
benign tumor of adipose tissue
most common soft tissue tumor of adults
what is seen on histo in lipoma?
encapsulated mass of normal-appearing adipose tissue
what is liposarcoma?
common malignant soft tissue tumor in adults
occurs in deep soft tissue of proximal extremities and retroperitoneum
recur unless completely excised
what mutation is associated with liposarcoma?
12q13-q15 and t(12;16)
MDM2 encoding p53
what is seen on histo in liposarcoma?
well-differentiated
myxoid
round cell
pleomorphic
what is nodular fasciitis?
self-limited fibroblastic and myofibroblastic proliferation
UE of young adults
t(17;22) encoding MYH9-USP6 fusion gene
what are the fibromatoses?
palmar - Dupuytren’s contracture
plantar
penile - Peyronie disease
what is deep fibromatosis?
desmoid tumor
large, infiltrative painful tumor that frequently recurs
occurs in women ages teens-30s
APC or B-catenin genes
who is predisposed to deep fibromatosis?
familial adenomatous polyposis (Gardner syndrome) with germline APC mutations
what is seen on histo with nodular fasciitis?
stellate and spindle cells separated by collagen bundles
what is fibrosarcoma
malignant, deep-seated, slow-growing tumor in thigh or trunk
in children: arises in extremities
what is seen on histo in fibrosarcoma?
uniform, spindled cells arranged in herringbone fascicles
what is rhabdomyosarcoma?
malignant skeletal muscle tumor
3 types:
alveolar
embryonal (60%)
pleomorphic
what gene is associated with alveolar rhabdomyosarcoma?
fusion of FOX01 to either PAX3 or PAX7
what forms of rhabdomyosarcoma arise in kids?
alveolar
embryonal
what is seen on histo in embryonal rhabdomyosarcoma?
rhabdomyoblasts causing cross striations
sarcoma botryoides causing cambium layer
where is rhabdomyosarcoma likely to localize in kids?
sinuses
head
neck
GU
what is leiomyoma?
benign smooth muscle tumor
most commonly found in the uterus
what syndromes are associated with leiomyomas?
hereditary leiomyomatosis
renal cell cancer syndrome
what is leiomyosarcoma?
malignant smooth muscle tumor found in adult woman
can metastasize to the lungs
what is synovial sarcoma?
malignant tumor adjacent to joint
presents in 20s-40s
can metastasize to lungs
what is seen on histo in synovial sarcoma?
keratins
epithelial cells
spindle cells
what is tuberous sclerosis complex?
AD mutation in TSC1 or TSC2
hamartomas renal angiomyolipomas pulmonary lymphangioleiomyomatosis cardiac rhabdomyomas angiofibromas subungal fibromas
what is von hippel-lindau disease?
AD mutation in VHL tumor suppressor gene
hemangioblastomas of cerebellum and retina
cysts of viscera
RCC
pheochromocytoma
what is NF1?
AD mutation neurofibromas optic nerve gliomas lisch nodules cafe au lait spots
what is NF2?
AD mutation
bilateral schwannomas
meningiomas
ependymomas
what are the peripheral nerve sheath tumors?
schwannoma
neurofibroma
malignant PNST
