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Pathology Flashcards

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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
avascular (aseptic) necrosis
ischemic necrosis | causes: fracture/trauma, STEROIDS, sickle cell, alcohol abuse, decompression sickness (the bends)
26
osteoid
unmineralized, organic portion of the bone matrix that forms prior to the maturation of bone tissue type I collagen
27
How does menopause play a role in the pathogenesis of osteoporosis?
1. decreased estrogen 2. increased IL-1, IL-6, TNF 3. increased RANK, RANKL 4. increased osteoclast activity
28
How does aging play a role in pathogenesis of osteoporosis?
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
29
bisphosphonates
inhibit osteoclasts and promote apoptosis | Tx: Paget, osteoporosis
30
sequestrum
lytic focus (abscess)
31
involurum
sclerosis
32
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)
1. staph aureus 2. N. gonorrhoeae 3. salmonella 4. pseudomonas 5. mycobacterium tuberculosis
33
Conditions that elevate ESR > 100 mm/hr
1. osteomyelitis 2. temporal arteritis 3. polymyalgia rheumatic
34
Osteitis fibrosa cystica (von Recklinghausen disease of bone)
RARE increased bone cell activity, peritrabecular fibrosis, cystic brown tumors end result of hyperparathyroidism
35
simple fracture
closed | does not pierce overlying skin
36
compound fracture
open bone is exposed to environment through the wound risk of infection
37
displaced fracture
separated in non-anatomic position
38
pathologic fracture
break after trivial trauma pre-existing problem ex: osteoporosis, bone cysts, cancer
39
spiral fracture
may indicate child abuse
40
toddler's fracture
spiral fracture of distal tibia usually from normal activity | NOT indicative of child abuse
41
stress (hairline) fracture
caused by constant or repeated stress | Xray may not reveal fracture
42
scaphoid fracture
fall on outstretched hand pain at snuffbox xray: unremarkable PROXIMAL scaphoid may undergo avascular necrosis
43
basilar skull fracture
``` secondary to trauma periorbital ecchymoses (RACCOON EYES), mastoid ecchymoses (BATTLE SIGN), CSF leakage through ears (otorrhea) or nose (rhinorrhea with salty, metallic taste) ```
44
fractures that are highly suspicious for child abuse
multiple fractures of different ages rib fractures spiral fratures (not toddler's fracture) *need to ensure not osteogenesis imperfecta
45
shaken baby syndrome
subdural hematomas | retinal hemorrhages
46
compartment syndrome
increased pressure compromises the vascular supply to extremity Sx: WOODLIKE compartment, severe pain Dx: measure intracompartmental pressure Tx: fasciotomy PAIN, PALLOR, PARESTHESIA, PULSELESSNESS, PARALYSIS
47
complications of fractures
deep vein thrombosis pulmonary emboli fat emboli compartment syndrome
48
steps of a healing fracture
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
osteoma
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
osteoid osteoma
young male:
51
osteoblastoma
``` 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
chondroma
benign cartilage tumor: CHONDROCYTES enchondroma, subperiosteal/juxtacortical chondroma or soft tissue IDH1/IDH2 genes: enchondroma
53
osteochondroma
``` 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
chondrosarcoma
male in 40's malignant cartilage tumor (NO osteoid) medulla of pelvis or axial skeleton
55
fibrous cortical defect (non-ossifying fibroma)
``` teens benign > 5cm and intramedullary component asymptomatic developmental defect Tx: none PINWHEEL ```
56
fibrous dysplasia
fibrous tissue forms instead of medullary bone problem with osteoblast maturation rib, femur Sx: painful swollen bones, fracture
57
giant cell tumor
``` young adults (20-40s) epiphysis of long bone, knee xray: SOAP BUBBLE locally aggressive, reoccurrence express RANKL ```
58
Ewing sarcoma
white male children
59
solitary bone cyst
male
60
aneurysmal bone cyst
1-20 yrs benign, fast growing: like sponge filled with blood Tx: curettage (can be a challenge due to extensive bleeding) reoccur
61
metastatic bone tumors
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
tumors located at epiphysis
benign chondroblastoma giant cell tumor
63
tumors located at diaphysis
``` benign 1. enchondroma 2. fibrous dysplasia malignant 1. Ewing's sarcoma 2. chondrosarcoma ```
64
tumors located at metaphysis
``` 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
osteosarcoma
``` 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
gardner syndrome
``` familial adenomatous polpyosis AD APC gene chromosome 5q21 Sx: colon polyps, osteoma, thyroid CA, epidermoid cysts, fibromas, desmoid tumors association: deep fibromatosis, osteoma ```
67
codman trianble
OSTEOSARCOMA | tumor destroys periosteal new bone before it ossifies and lifts the periosteum
68
chondroblastic osteosarcoma
osteosarcoma making malignant cartilage
69
RB
OSTEOSARCOMA and retinoblastoma | neg. regulator of cell cycle
70
TP53
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
INK4a
OSTEOSARCOMA | tumor suppressor gene
72
MDM2
OSTEOSARCOMA, LIPOSARCOMA | cell cycle regulator that inhibits p53
73
CDK4
OSTEOSARCOMA, LIPOSARCOMA | cell cycle regulator that inhibits RB
74
enchondroma
``` 20-49 yrs small bones of hands and feet solitary usually arise from diaphyseal medullary cavity asymptomatic Tx: excise or nothing IDH1/2 ```
75
IDH1/IDH2
isocitrate dehydrogenase 1/2 | CHONDROMA, AML, glioma
76
multiple enchondromas
may produce severe deformities | transformation to chondrosarcoma
77
Maffuci syndrome
1. multiple enchondromas 2. soft tissue hemangioma 3. ovarian cancer, brain gliomas
78
Ollier disease
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
mazabraud syndrome
1. fibrous dysplasia | 2. soft tissue myxomas
80
McCune Albright syndrom
1. fibrous dysplasia 2. CAFE AU LAIT skin 3. endocrine abnormalities (precocious puberty)
81
lytic lesion
``` punched out (dark) on X-ray ex: metastatic bone cancer, cysts ```
82
osteoblastic lesion
white on X-ray | ex: metastatic bone cancer from prostate
83
soft tissue tumors
arise from pluripotent stem cells most benign most on THIGH
84
ganglion cyst
joint small cyst-like spaces with no epithelial lining, contain mixed material degenerative phenomenon in tendons or CT near joint
85
giant cell tumor of tendon sheath
near joint interfere with function well circumscribed tumor YELLOW: lipid laden macrophages
86
tenosynovial giant cell tumor
joint HEMOSIDERIN depostion: brown localized destructive lesion in a single joint, usually knee
87
lipoma
``` 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
liposarcoma
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
HMGA2/HMGIC rearrangement at 12q13-15
lipoma
90
lipoblast
liposarcoma
91
12q13-15 amplification
liposarcoma
92
histologic subtypes of liposarcoma
1. well differentiated: indolent 2. myxoid: intermediate (CHICKENWIRE vessels) 3. pleomorphic: aggressive (LIPOBLAST)
93
nodular fasciitis
``` fibrous RAPIDLY GROWING, benign fibroblast proliferation in subcutis ARMS 1/4 Hx of trauma clonal but self limited ```
94
myositis ossificans
fibrous presence of metaplastic bone after trauma of proximal extremities in young athletes Tx: cure with excision
95
fibromatosis: superficial
male fibrous fibroblastic proliferation that causes local deformity: CONTRACTURE
96
fibrosarcoma
``` 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
fibromatosis: deep
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
Beta-catenin
increase WNT signaling | deep fibromatosis
99
APC gene
increase WNT signaling | deep fibromatosis, Gardners
100
rhabdomyoma
``` muscle PEDIATRIC HEART (hamartoma): can obstruct valve or chamber SPIDER cells spontaneously regress association: TUBEROUS SCLEROSIS TSC1/2 mutation ```
101
rhabdomyosarcoma
muscle malignant mesenchymal tumor with skeletal muscle differentiation pediatric forms: sinus, head, neck, GU RHABDOMYOBLASTS: on EM can see sarcomeres
102
TSC1
hamartin | rhabdomyoma
103
TSC2
tuberin | rhabdomyoma
104
tuberous sclerosis
seizures, angiomyolipomas of kidney | child with RHABDOMYOMA
105
types of rhabdomyosarcoma
1. embryonal (child) 2. alveolar (child): t(1:13), t(2:13) 3. pleomorphic: myogenin (IHC stain)
106
sarcoma botyoides
variant of embryonal rhabdomyosarcoma nasopharynx, vagina from cambium layer
107
t(1:13)
alveolar rhabdomyosarcoma
108
t(2: 13)
alveolar rhabdomyosarcoma | worse prognosis
109
myogenin (IHC stain)
pleomorphic rhabdomyosarcoma | prove rhabdomyoblastic differentiation
110
leiomyoma
``` sm. muscle benign tumor most common neoplasm in women uterus common associaiton: renal cell CA syndrome FUMERATE HYDRATASE: germline loss of function mutation ```
111
leiomyosarcoma
``` women more than men sm. muscle painless, large, bulky deep soft tissue tumor of extremities and retroperitoneum great vessels: deadly metastasis: LUNG ```
112
fumerate hydratase
Kreb's cycle | germline loss of mutation function: hereditary leiomyomatosis, renal cell cancer syndrome
113
synovial sarcoma
``` 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
t(X: 18)
synovial sarcoma
115
undifferentiated pleomorphic sarcoma
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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