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Musculoskeletal > Pathology > Flashcards

Pathology Flashcards

1
Q

RANKL (RANK ligand)

A

located on osteoblast/ stromal cells

binds RANK receptor on osteoclasts and activates ir

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2
Q

M-CSF (macrophage- colony stimulating factor)

A

located on osteoblast/ stromal cells

helps RANKL activate osteoclast

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3
Q

osteoprotegerin (OPG-a soluble protein)

A

located on osteoblast

binds RANKL and prevents bone resorption by inhibiting osteoclast differentiation

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4
Q

parathyroid hormone (PTH)

A

increases RANKL

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5
Q

enchondral ossification

A

formation of bone through cartilage

occurs at epiphyseal plate

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6
Q

membranous ossification

A

no cartilage intermediate step
cells from periosteum differentiate into osteoblasts and make bone
flat bones

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7
Q

osteogenesis imperfecta

A

mutations in alpha 1 or 2 chains of TYPE I COLLAGEN

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8
Q

achondroplasia dwarfism

A

AD or spontaneous
activating mutation in FGFR3
affects only bones that develop by enchondrial ossification
cartilage of growth plates disorganized and hypoplastic
Sx: frontal bossing with mid face hypoplasia, short limbs, bowing legs, trident hands, lordosis

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9
Q

thanatophoric dwarfism

A

FGFR3
lethal variant of dwarfism
small thorn leads to respiratory complications

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10
Q

osteopetrosis

A

AD (mild, adult)
AR (lethal, infantile)
dense solid bones that fracture easily
poor osteoclast function
CARBONIC ANHYDRASE II deficiency: loss of acidic microenvironment needed for bone resorption
Sx: metabolic acidosis, anemia, thrombocytopenia, extra medullary hematopoiesis (hepatosplenomegaly), vision and hearing impairment, hydrocephalus, infections

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11
Q

osteogenesis imperfecta type I presentation

A 
normal lifespan
mild bone fragility
rib deformities
BLUE SCLERAE
hearing loss
small misshapen teeth (dentin deficiency)
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12
Q

osteogenesis imperfecta type II

A

perinatal lethal

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13
Q

FGFR3

A

fibroblast growth factor receptor 3
inhibits cartilage proliferation
ACHONDROPLASIA

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14
Q

carbonic anhydrase II

A

generate protons from CO2 and water

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15
Q

rickets

A

VITAMIN D (deficiency, abnormal metabolism or Ca2+ deficiency): defect in bone mineralization
Xray: distal end of long bones flared, frayed, and cupped; increased distance between radius and metacarpals
Sx: pigeon chest deformity, frontal bossing, bowing of legs, rachitic rosary
increase: PTH, alkaline phosphatase
decrease: Ca, Pi

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16
Q

osteomalacia

A

VITAMIN D deficiency in adults
inadequate mineralization of bone
increase: PTH, alkaline phosphatase
decrease: Ca, Pi

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17
Q

vitamin D

A

mineralizes osteoid matrix

stimulates osteoblast to synthesize osteocalcin

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18
Q

osteocalcin

A

deposition of Ca in bone development

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19
Q

calcium hydroxyapatite

A

inorganic part of bone
Ca, Pi, Na, Mg
strength and hardness of bone

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20
Q

osteomyelitis

A

bone infection
cause: direct inoculation (trauma), contiguous spread (cellulitis), hematogenous spread
Sx: bone pain, sequestrum surrounded involurum on X-ray
Tx: blood culture first

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21
Q

osteoporosis

A

reduction in trabecular bone mass
porous bone with increased risk of fracture
causes: aging, inactivity, decreased estrogen, genetics, nutrition
Sx: hip fracture (side fall, high mortality), kyphosis
Tx: bisphosphonates

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22
Q

Pagets

A

imbalance of osteoclast and osteoblast function: thick bone that fractures easily
predisposition: chromosome 18
LOCALIZED
Sx: isolated elevated ALAKALINE PHOSPHOTASE, thick skull, deafness, kyphosis, pain, bowed legs
COTTON WOOL skull
complication: OSTEOSARCOMA
Tx: bisphosphonates

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23
Q

hyperparathyroidism

A

primary: tumor or hyperplasia
secondary: prolonged state of hypocalcemia with hyper secretion of PTH
PTH -> osteoblasts -> osteoclasts
bone resorption
Sx: brown tumor

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24
Q

renal osteodystrophy

A

skeletal changes associated with chronic renal disease
kidney fails to convert Vitamin D to active form
reduced Ca -> increased PTH -> bone resorption

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25
Q

avascular (aseptic) necrosis

A

ischemic necrosis

causes: fracture/trauma, STEROIDS, sickle cell, alcohol abuse, decompression sickness (the bends)

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26
Q

osteoid

A

unmineralized, organic portion of the bone matrix that forms prior to the maturation of bone tissue
type I collagen

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27
Q

How does menopause play a role in the pathogenesis of osteoporosis?

A
  1. decreased estrogen
  2. increased IL-1, IL-6, TNF
  3. increased RANK, RANKL
  4. increased osteoclast activity
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28
Q

How does aging play a role in pathogenesis of osteoporosis?

A
  1. decreased replicative activity of osteoprogenitor cells
  2. decreased synthetic active of osteoblasts
  3. decreased biologic activity of matrix-bound growth factors
  4. reduced physical activity
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29
Q

bisphosphonates

A

inhibit osteoclasts and promote apoptosis

Tx: Paget, osteoporosis

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30
Q

sequestrum

A

lytic focus (abscess)

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31
Q

involurum

A

sclerosis

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32
Q

Causes of osteomyelitis:

  1. most common
  2. sexually active young adults
  3. sickle cell disease
  4. diabetics or IV drug abusers
  5. Pott disease (spine)
A
  1. staph aureus
  2. N. gonorrhoeae
  3. salmonella
  4. pseudomonas
  5. mycobacterium tuberculosis
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33
Q

Conditions that elevate ESR > 100 mm/hr

A
  1. osteomyelitis
  2. temporal arteritis
  3. polymyalgia rheumatic
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34
Q

Osteitis fibrosa cystica (von Recklinghausen disease of bone)

A

RARE
increased bone cell activity, peritrabecular fibrosis, cystic brown tumors
end result of hyperparathyroidism

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35
Q

simple fracture

A

closed

does not pierce overlying skin

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36
Q

compound fracture

A

open
bone is exposed to environment through the wound
risk of infection

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37
Q

displaced fracture

A

separated in non-anatomic position

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38
Q

pathologic fracture

A

break after trivial trauma
pre-existing problem
ex: osteoporosis, bone cysts, cancer

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39
Q

spiral fracture

A

may indicate child abuse

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40
Q

toddler’s fracture

A

spiral fracture of distal tibia usually from normal activity

NOT indicative of child abuse

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41
Q

stress (hairline) fracture

A

caused by constant or repeated stress

Xray may not reveal fracture

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42
Q

scaphoid fracture

A

fall on outstretched hand
pain at snuffbox
xray: unremarkable
PROXIMAL scaphoid may undergo avascular necrosis

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43
Q

basilar skull fracture

A 
secondary to trauma
periorbital ecchymoses (RACCOON EYES), mastoid ecchymoses (BATTLE SIGN), CSF leakage through ears (otorrhea) or nose (rhinorrhea with salty, metallic taste)
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44
Q

fractures that are highly suspicious for child abuse

A

multiple fractures of different ages
rib fractures
spiral fratures (not toddler’s fracture)
*need to ensure not osteogenesis imperfecta

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45
Q

shaken baby syndrome

A

subdural hematomas

retinal hemorrhages

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46
Q

compartment syndrome

A

increased pressure compromises the vascular supply to extremity
Sx: WOODLIKE compartment, severe pain
Dx: measure intracompartmental pressure
Tx: fasciotomy
PAIN, PALLOR, PARESTHESIA, PULSELESSNESS, PARALYSIS

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47
Q

complications of fractures

A

deep vein thrombosis
pulmonary emboli
fat emboli
compartment syndrome

48
Q

steps of a healing fracture

A
  1. hematoma: fills gap; platelets and inflammatory cells enter
  2. end of week one: tissue is primed for new matrix synthesis
  3. week 2-3: early callus formation
  4. bony callus: can now bear weight
49
Q

osteoma

A

adult/child
bone tumor: compact or mature trabecular bone
CRANIOFACIAL bones, PARANASAL sinuses
Sx: pain, headache, vision change
prognosis: depends on proximity to essential structures
GARDNER SYNDROME

50
Q

osteoid osteoma

A

young male:

51
Q

osteoblastoma

A 
children/young adults
bone tumor (similar to osteoid osteoma)
benign > 2 cm
vertebrae
Sx: bone pain that does NOT respond to aspirin
Tx: curettage or excised en bloc
52
Q

chondroma

A

benign cartilage tumor: CHONDROCYTES
enchondroma, subperiosteal/juxtacortical chondroma or soft tissue
IDH1/IDH2 genes: enchondroma

53
Q

osteochondroma

A 
male 10-20
MOST COMMON benign tumor of bone
epiphyseal plate: cap of cartilage 
Sx: pain, slow growth, stops after puberty and ossifies 
rare transformation to: CHONDROSARCOMA
Tx: excision
imaging: MUSHROOM (nuclear blast)
54
Q

chondrosarcoma

A

male in 40’s
malignant cartilage tumor (NO osteoid)
medulla of pelvis or axial skeleton

55
Q

fibrous cortical defect (non-ossifying fibroma)

A 
teens
benign > 5cm and intramedullary component
asymptomatic developmental defect
Tx: none
PINWHEEL
56
Q

fibrous dysplasia

A

fibrous tissue forms instead of medullary bone
problem with osteoblast maturation
rib, femur
Sx: painful swollen bones, fracture

57
Q

giant cell tumor

A 
young adults (20-40s)
epiphysis of long bone, knee
xray: SOAP BUBBLE
locally aggressive, reoccurrence 
express RANKL
58
Q

Ewing sarcoma

A

white male children

59
Q

solitary bone cyst

A

male

60
Q

aneurysmal bone cyst

A

1-20 yrs
benign, fast growing: like sponge filled with blood
Tx: curettage (can be a challenge due to extensive bleeding)
reoccur

61
Q

metastatic bone tumors

A

more common that primary
lytic lesion: punched out (exception: prostatic is white osteoblastic lesion)
BLT with a Kosher Pickle: breast, lung, thyroid, kidney, prostate

62
Q

tumors located at epiphysis

A

benign
chondroblastoma
giant cell tumor

63
Q

tumors located at diaphysis

A 
benign
1. enchondroma
2. fibrous dysplasia
malignant
1. Ewing's sarcoma
2. chondrosarcoma
64
Q

tumors located at metaphysis

A 
benign
1. osteoblastoma
2. osteochondroma
3. non-ossifying fibroma
4. osteoid osteoma
5. chondromyxoid fibroma
6. giant cell tumor
malignant
1. osteosarcoma
2.juxtacortical osteosarcoma
65
Q

osteosarcoma

A 
male 10-20yrs
MOST COMMON (after myeloma) bone tumor
malignant: OSTEOBLASTS
knee, metaphysis 
Rb gene: retinoblastoma: poor prognosis
TP53: Li-Fraumeni syndrome or sporadic
older patients: Paget, post radiation
Sx: pain, enlarging, fracture, 20% lung metastasis at Dx
imaging: CODMAN TRIANGLE
micro: LACE LIKE
66
Q

gardner syndrome

A 
familial adenomatous polpyosis
AD
APC gene
chromosome 5q21
Sx: colon polyps, osteoma, thyroid CA, epidermoid cysts, fibromas, desmoid tumors
association: deep fibromatosis, osteoma
67
Q

codman trianble

A

OSTEOSARCOMA

tumor destroys periosteal new bone before it ossifies and lifts the periosteum

68
Q

chondroblastic osteosarcoma

A

osteosarcoma making malignant cartilage

69
Q

RB

A

OSTEOSARCOMA and retinoblastoma

neg. regulator of cell cycle

70
Q

TP53

A

OSTEOSARCOMA and others
gene whose product functions as guardian of genomic integrity by promoting DNA repair and apoptosis of irreversibly damaged cells
LI-FRAUMENI syndrome

71
Q

INK4a

A

OSTEOSARCOMA

tumor suppressor gene

72
Q

MDM2

A

OSTEOSARCOMA, LIPOSARCOMA

cell cycle regulator that inhibits p53

73
Q

CDK4

A

OSTEOSARCOMA, LIPOSARCOMA

cell cycle regulator that inhibits RB

74
Q

enchondroma

A 
20-49 yrs
small bones of hands and feet
solitary usually
arise from diaphyseal medullary cavity
asymptomatic 
Tx: excise or nothing
IDH1/2
75
Q

IDH1/IDH2

A

isocitrate dehydrogenase 1/2

CHONDROMA, AML, glioma

76
Q

multiple enchondromas

A

may produce severe deformities

transformation to chondrosarcoma

77
Q

Maffuci syndrome

A
  1. multiple enchondromas
  2. soft tissue hemangioma
  3. ovarian cancer, brain gliomas
78
Q

Ollier disease

A

non-hereditary disease of multiple enchondromas of long bones and flat bones with skeletal deformity
if imaging benign: ignore low grade chondrosarcoma features on histo
most lesions regress when skeleton matures
often: ovarian sex cord tumors

79
Q

mazabraud syndrome

A
  1. fibrous dysplasia

2. soft tissue myxomas

80
Q

McCune Albright syndrom

A
  1. fibrous dysplasia
  2. CAFE AU LAIT skin
  3. endocrine abnormalities (precocious puberty)
81
Q

lytic lesion

A 
punched out (dark) on X-ray
ex: metastatic bone cancer, cysts
82
Q

osteoblastic lesion

A

white on X-ray

ex: metastatic bone cancer from prostate

83
Q

soft tissue tumors

A

arise from pluripotent stem cells
most benign
most on THIGH

84
Q

ganglion cyst

A

joint
small cyst-like spaces with no epithelial lining, contain mixed material
degenerative phenomenon in tendons or CT near joint

85
Q

giant cell tumor of tendon sheath

A

near joint
interfere with function
well circumscribed tumor
YELLOW: lipid laden macrophages

86
Q

tenosynovial giant cell tumor

A

joint
HEMOSIDERIN depostion: brown
localized destructive lesion in a single joint, usually knee

87
Q

lipoma

A 
benign tumor of fat
MOST COMMON soft tissue tumor in adults
trunk or superficial extremity
mobile, slow growing, painless (angiolipoma can manifest with pain)
YELLOW
HMGA2/HMGIC rearrangement at 12q13-15
Tx: complete excision cures
88
Q

liposarcoma

A

50-60’s
malignant tumor of fat
deep soft tissue of proximal extremities, RETROPERITONEUM
MDM2, CDK4 stain
12q13-15 amplification
recur locally and repeatedly if not adequately excised
LIPOBLAST

89
Q

HMGA2/HMGIC rearrangement at 12q13-15

A

lipoma

90
Q

lipoblast

A

liposarcoma

91
Q

12q13-15 amplification

A

liposarcoma

92
Q

histologic subtypes of liposarcoma

A
  1. well differentiated: indolent
  2. myxoid: intermediate (CHICKENWIRE vessels)
  3. pleomorphic: aggressive (LIPOBLAST)
93
Q

nodular fasciitis

A 
fibrous
RAPIDLY GROWING, benign fibroblast proliferation in subcutis 
ARMS
1/4 Hx of trauma
clonal but self limited
94
Q

myositis ossificans

A

fibrous
presence of metaplastic bone after trauma of proximal extremities in young athletes
Tx: cure with excision

95
Q

fibromatosis: superficial

A

male
fibrous
fibroblastic proliferation that causes local deformity: CONTRACTURE

96
Q

fibrosarcoma

A 
adults
fibrous
malignant neoplasm of fibroblasts
deep in thigh, retroperitoneal
local recurrence common
hematogenous spread to LUNGS
HERRINGBONE
gross: unencapsulated with necrosis and hemorrhage
97
Q

fibromatosis: deep

A

young females
benign fibrous
large infiltrative mass that recur but do not metastasize; can impinge abdominal structures
APC, BETA-CATENIN: increase WNT signaling
association: GARDNERS SYNDROME

98
Q

Beta-catenin

A

increase WNT signaling

deep fibromatosis

99
Q

APC gene

A

increase WNT signaling

deep fibromatosis, Gardners

100
Q

rhabdomyoma

A 
muscle
PEDIATRIC HEART (hamartoma): can obstruct valve or chamber
SPIDER cells
spontaneously regress
association: TUBEROUS SCLEROSIS 
TSC1/2 mutation
101
Q

rhabdomyosarcoma

A

muscle
malignant mesenchymal tumor with skeletal muscle differentiation
pediatric forms: sinus, head, neck, GU
RHABDOMYOBLASTS: on EM can see sarcomeres

102
Q

TSC1

A

hamartin

rhabdomyoma

103
Q

TSC2

A

tuberin

rhabdomyoma

104
Q

tuberous sclerosis

A

seizures, angiomyolipomas of kidney

child with RHABDOMYOMA

105
Q

types of rhabdomyosarcoma

A
  1. embryonal (child)
  2. alveolar (child): t(1:13), t(2:13)
  3. pleomorphic: myogenin (IHC stain)
106
Q

sarcoma botyoides

A

variant of embryonal rhabdomyosarcoma
nasopharynx, vagina
from cambium layer

107
Q

t(1:13)

A

alveolar rhabdomyosarcoma

108
Q

t(2: 13)

A

alveolar rhabdomyosarcoma

worse prognosis

109
Q

myogenin (IHC stain)

A

pleomorphic rhabdomyosarcoma

prove rhabdomyoblastic differentiation

110
Q

leiomyoma

A 
sm. muscle
benign tumor
most common neoplasm in women
uterus common
associaiton: renal cell CA syndrome
FUMERATE HYDRATASE: germline loss of function mutation
111
Q

leiomyosarcoma

A 
women more than men
sm. muscle
painless, large, bulky deep soft tissue tumor of extremities and retroperitoneum
great vessels: deadly
metastasis: LUNG
112
Q

fumerate hydratase

A

Kreb’s cycle

germline loss of mutation function: hereditary leiomyomatosis, renal cell cancer syndrome

113
Q

synovial sarcoma

A 
20s-40s
misnomer
can present in locations without synovium, deep seated mass for years
t(X: 18)
Tx: surgery and chemo
mets: to LUNG
monophasic and biphasic
114
Q

t(X: 18)

A

synovial sarcoma

115
Q

undifferentiated pleomorphic sarcoma

A

cannot be identified on hits, immunohistochemical profile, ultrastructure, or genetics
large, white, grey-white fleshy mass
necrosis and hemorrhage common

Musculoskeletal (13 decks)

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