Bones, Joints, and Soft Tissues (pt 2) Flashcards
(122 cards)
1
Q
What is the most common benign bone tumor?
A
osteochondroma
exostosis, a bony projection
2
Q
Does osteochondroma have a predilection for males or females, and what age group does it most commonly affect?
A
- males (3:1)
- young adults
3
Q
What gene mutation is associated w/ osteochondroma?
A
EXT1
EXT2
-encodes heparin sulfate glycosaminoglycans
4
Q
What part of the bone is most commonly afflicted by osteochondromas?
A
-the metaphysis near the growth place of tubular bones
5
Q
True or False: there is a version of osteochondroma with multiple hereditary exostosis that is autosomal dominant in inheritance.
A
True; 5-20% of these cases progress to chondrosarcoma.
6
Q
Is the medullary cavity continuous in a osteochondroma?
A
Yes
7
Q
What are the characteristics of an osteochondroma?
A
- can be sessile or pedunculated
- bluish cartilage cap covers the bony cortex
8
Q
What is an enchondroma?
A
–well-circumscribed (encased by a thin layer or reactive bone) nodules of hyaline cartilage containing benign chondrocytes
- -periphery may ossify
- -center may calcify and infarct
9
Q
What parts of the bones may be afflicted by enchondromas?
A
- medullary cavity
- or on the surface (subperiosteal or juxtacortical)
10
Q
What is Ollier Syndrome versus Maffucci Syndrome?
A
Ollier: multiple enchondromas
Maffucci: multiple enchondromas + angiomas; increased risk of osteosarcoma and other malignancy
-both have increased cellularity and increased atypia
11
Q
What genes are mutated in endochondromas?
A
IDH1 and IDH2
12
Q
What demographic is typically affected by chondrosarcoma?
A
- males (2:1)
- 40+ yrs of age
13
Q
Where in the body are chondrosarcomas most common?
A
- AXIAL SKELETON
- -pelvis
- -SHOULDERS
- -ribs
14
Q
What are the characteristics of chondrosarcoma?
A
- invade locally
- painful enlarging mass
- may metastasize
15
Q
If a chondrosarcoma metastasizes, where does it usually metastasize to?
A
- lungs
- 70% of Grade 3 chondrosarcomas spread hematogenously
16
Q
What is seen on histology and morphology of chondrosarcomas?
A
- bizarre giant cells (multiple nuclei)
- grey/white translucent cartilage
- calcified matrix appears as foci of flocculent density
17
Q
Do the majority of chondrosarcomas arise de novo or from pre-existing tumors?
A
- 85% arise de novo
- 15% from preexisting osteochondroma or enchondroma (ex: multiple osteochondroma syndrom mutations in EXT genes)
18
Q
What is the clinical manifestation of osteoid osteomas?
A
-pain worse at night
-most common in the appendicular skeleton
(50% in the femur or tibia)
-responds to aspirin and NSAIDS (b/c of prostaglandin E2 that is produced in excess by osteoblasts)
19
Q
What is the most common demographic to be affected by osteoid osteomas?
A
-young men, teens, and 20’s
20
Q
What is the morphology and histology of osteoid osteoma?
A
- less than 2cm (if larger, it’s an osteoblastoma)
- central nidus of translucent woven bone (haphazardly interconnected trabeculae) surrounded by rim of osteoblasts
- thick rind of reactive bone
21
Q
What is the treatment for osteoid osteoma?
A
-radiofrequency ablation
22
Q
What are the characteristics of an osteoblastoma that differentiate it from an osteoid osteoma?
A
- larger than 2 cm
- posterior spine
- NO bony reaction
- does NOT respond to aspirin
23
Q
What is the treatment for osteoblastoma?
A
-curetted or excised en bloc
24
Q
True or False: osteoblastomas commonly transform into a malignancy
A
False; malignant transformation is rare.
25
What is the most common primary malignant tumor of bone?
osteosarcoma
26
What is the clinical presentation of osteosarcoma?
- painful, enlarging mass
| - usually around the knee
27
What is the typical demographic of osteosarcoma?
- bimodal age distribution (75% under 20yrs)
- 2nd peak in older males w/ Paget's Dz
- prior radiation causes secondary osteosarcoma
- -5yr survival rate is 20%
28
What gene is commonly mutated in sporadic osteosarcoma?
-70% have an Rb gene mutation
29
What gene is mutated in osteosarcomas that are associated with Li-Fraumani Syndrome (and breast cancer)?
TP53
30
What is shown on an x-ray of osteosarcoma?
- mixed lytic and blastic mass
| - Codman Triangle (elevation of periosteum)
31
Where does osteosarcoma commonly metastasize?
hematogenous spread to the lungs
32
What is the most common demographic for Ewing Sarcoma?
- 80% occur in those younger than 20yrs
| - striking predilection for whites
33
What is the clinical presentation of Ewing Sarcoma?
- painful enlarging mass
- warm and swollen
- fever
- elevated ESR
- mimics an infection
34
What do you see on x-ray in Ewing Sarcoma?
- periosteal rxn
| - -reactive bone in "onion skin" fashion
35
What part of the skeleton is most commonly affected by Ewing Sarcoma?
- diaphysis of long bones (esp. femur)
| - arises in the medullary cavity and invades the cortex
36
What is the gene mutation associated w/ Ewing Sarcoma?
t(11;22)(q24:q12)
EWS-FL11
37
What is an important prognostic indication in the treatment of Ewing Sarcoma?
-the more chemo-induced necrosis, the better the prognosis
38
What is fibrous dysplasia?
-benign proliferation of fibrous tissue and bone that do not mature
39
Are the majority of fibrous dysplasias monostotic or polyostotic?
70% are monostotic and usually asymptomatic
40
What is the demographic of those affected by fibrous dysplasia?
- early adolescence when the growth plate closes
| - affects males and females equally
41
What parts of the skeleton are most affected by fibrous dysplasia?
- craniofacial bones
- femur or tibia
- ribs
42
What is seen on radiographic imaging of fibrous dysplasia?
- -ground glass appearance
| - -well-defined margins
43
What is McCune-Albright Disease?
-a disease that includes fibrous dysplasia
- -unilateral bone lesions
- -pigmented skin lesions (cafe au lait) on the same side
- -precocious puberty in females
- -GNAS mutation
44
What is Mazabraud Syndrome?
-a syndrome that includes fibrous dysplasia
- -polyostotic fibrous dysplasia
- -multiple skeletal deformities in childhood
- -intramuscular soft tissue myxomas
45
What is seen on H and E stain of fibrous dysplasia?
- curvilinear trabeculae
| - "chinese characters"
46
What is an osteoclastoma (giant cell tumor of bone)?
- consists of multinucleated osteoclast-type giant cells
- may be of monocyte/macrophage derivation
(also need to consider a brown tumor of hyperparathyroidism in ddx)
47
What demographic is typically affected by osteoclastomas?
ages 20-40
48
What parts of the skeleton are most commonly affected by osteoclastomas?
- epiphysis (may extend into metaphysis) of long bones
- -knee: distal femur, and tibia
- -cause arthritis-like symptoms
- -may cause pathological fractures
49
What percentage of osteoclastomas tend to recur after curetage?
50%
50
What is the most common form of skeletal malignancy and where is it most commonly found?
- metastases to bone
| - axial skeleton
51
What primary tumors in adults cause the most metastatic lesions in bone?
- prostate
- breast
- kidney
- lung
52
What primary cancers in kids cause the most metastatic lesions in bone?
- neuroblastoma
- Wilms
- osteosarcoma
- Ewing Sarcoma
- rhabdomyosarcoma
53
Which types of metastatic cancers to bone tend to have solitary tumors in the bone?
- kidney
| - thyroid
54
Where in the skeleton do lung, kidney, and colon cancers tend to metastasize to?
-small bones of hands and feet
55
How do metastatic tumors to the bone appear on radiography?
- lytic (bone destroying)
| - except prostatic adenocarcinoma is blastic
56
What are the characteristics of a solid (nonsynovial) joint, aka synarthroses?
- provide structural integrity
- only allow minimal mvmt
- lack a joint space
-hyaline cartilage: 10% Type II collagen; 70% water; 8% proteoglycans; NO blood, lymphatic, or nerve supply
57
What are the characteristics of synovial joints?
- have a joint space
- wide range of motion
- dense fibrous capsule reinforced by ligaments and muscles
-b/w the ends of bones that were formed via endochondral ossification
58
What are the characteristics of rheumatoid arthritis and osteoarthritis that differentiate them from each other?
Rheumatoid Arthritis:
- -rapid onset at any age (commonly teens-30's)
- -symmetrical polyarthritis, small joints of hands/feet
- -morning stiffness
- -systemic symptoms of fatigue, fever and night sweats
Osteoarthritis:
- -usually later in life w/ slow onset over years
- -initially asymmetrical
- -weight-bearing joints (ex: knees and hips)
- -end of day stiffness and crepitus
- -no systemic symptoms
59
What is the cause of primary osteoarthritis?
- aging
| - rate increases exponentially after age 50
60
What joints does osteoarthritis tend to affect in women and in men?
Women: hands and knees
Men: hips
61
What is the pathogenesis of osteoarthritis?
- water content of the matrix increases
- concentration of proteoglycans decreases
- forms cracks in the matrix
- hunks of cartilage are sloughed off ("joint mice")
- subchondral bone is exposed (eburnation)
62
What happens to the bones that have been exposed due to the wear and tear of the cartilage in osteoarthritis?
- bone tries to buttress stress
- microfractures
- subchondral cysts
-formation of osteophytes (nerve root compression, radicular pain, and neuro deficits)
63
What is the definition of ankylosis?
-joint stiffness due to abnormal adhesion and rigidity of the bones of the joint, which may be the result of injury or disease
64
What tests, if positive, support the diagnosis of rheumatoid arthritis?
+rheumatoid factor
+CCP antibodies (anti-cyclic citrullinated peptide)
(also ESR and CRP)
65
What physical deformities can be seen in rheumatoid arthritis?
- -Boutonniere: hyperextended DIP; flexed PIP
- -Swan-Neck: flexed DIP; hyperextended PIP
- -ulnar deviation of the fingers
- -radial deviation of the wrist
66
What is seen in joint pathology of patients with rheumatoid arthritis?
- pannus: edematous, thickened, hyperplastic synovium
- synovial hypertrophy w/ villi
- lymphoid aggregates
67
What can be seen as a cutaneous symptoms of rheumatoid arthritis?
- rheumatoid nodule on the extensor surfaces at pressure points
- extra articular lesions have central necrosis and palisading histiocytes
68
What physical deformities can be seen in osteoarthritis?
- Heberden nodes
| - Bouchard nodes
69
What are seronegative spondyloarthropathies and how do they differ from rheumatoid arthritis and osteoarthritis?
-affect the LIGAMENTOUS ATTACHMENTS
(rather than the synovium)
- negative rheumatoid factor
- associated w/ HLA B27
70
What are the characteristics of ankylosing spondylitis?
- -HLA B27
- -vertebrae and sacroiliac joints
- -hits in the 20's and 30's
- -uveitis, aortitis, amyloidosis
- -one-third have peripheral joint involved (hip, knee)
71
What is the common triad of symptoms in Reactive Arthritis?
1) arthritis
2) urethritis or cervicitis
3) conjunctivitis
Cardiac Symptoms: cardiac conduction abnormalities and aortic regurgitation
72
What are the characteristics of Reactive Arthritis?
- HLA B27
- men in 20's and 30's
- prior GI or GU infections (several wks earlier)
- affects feet, knees, and ankles asymmetrically
- severe chronic spine involvement
73
What are the characteristics of Enteritis-Associated Arthritis?
- Yersinia, Salmonella, Shigella, Campy
- LPS of cell membrane stimulate
- appears suddenly
- lasts about a year
- knees, ankles
74
What are the characteristics of psoriatic arthritis?
- peripheral and axial joints
| - HLA B27
75
What is the demographic of those affected by Psoriatic Arthritis?
- ages 30-50
| - affects 20% of those with psoriasis
76
What type of skeletal deformity is seen in those with Psoriatic Arthritis?
-"pencil in cup" deformity in the DIP's
77
What changes do you see in the nails of those with psoriatic arthritis?
- thick, rough, and rigid
- discolored
- develop pits
- onycholysis
78
How does infectious arthritis occur?
- microorganisms seed joints via hematogenous spread
- or direct inoculation
- or contiguous spread from soft tissue abscess or an area of osteomyelitis
79
What is the progression and final consequence of infectious arthritis?
- rapid joint destruction
| - permanent deformities
80
In patients under the age of two years old with suppurative arthritis, what is the main organism?
H flu
81
In older kids and adults with suppurative arthritis, what are the main organisms responsible?
-Staph aureus
- Gonococcus (in late adolescence and early adults)
- -more prevalent in sexually active women
- -those with MAC deficiency more susceptible
82
What is the clinical presentation of suppurative arthritis?
- acutely painful and swollen joint
- restricted range of motion
- fever
- leukocytosis
- increased ESR
83
Does suppurative arthritis tend to affect a single joint or multiple joints?
- single joint
| - -usually a knee
84
How is suppurative arthritis diagnosed?
- joint aspiration
- -will yield cloudy, tubid purulent fluid
- -WBC count greater than 50k (mostly PMN's)
- -glucose levels half that of the serum
- -50% have a positive gram stain and culture
85
What are the characteristics of suppurative arthritis caused by mycobacterium?
- insidious onset
- gradual progressive pain
- usually hip
86
What are the characteristics of suppurative arthritis caused by Lyme Disease?
- 70% develop it days/weeks after the skin lesion
| - usually knees
87
What are some viral causes of suppurative arthritis?
- HIV
- HBV
- HCV
- EBV
- parvo B19
- rubella
88
What is gout?
-attacks of acute arthritis initiated by crystallization of monosodium urate (MSU) within and around joints
- due to overproduction or reduced excretion of MSU
- -plasma levels greater than 6.8 mg/dL
89
What risk factors lead to the development of gout?
- age (gout appears after 20-30yrs of hyperuricemia)
- genetic predisposition
- heavy alcohol consumption
- obesity
- drugs (ex: thiazide diuretics)
- lead toxicity
90
Which is more prevalent, primary gout or secondary gout?
primary
91
What are some causes of secondary gout?
- -leukemia
- -chronic renal disease
- -Lesch-Nyhan Syndrome
- -HGPRT deficiency
92
What is seen on and H and E stain that is pathognomonic for gout?
-gouty tophus
| urate crystals can be seen under polarized light
93
What joint is most commonly affected by gout?
-half of the cases are in the first metatarsophalangeal joint
94
What are the clinical symptoms of gout?
- excruciating joint pain
- localized hyperemia
- warmth
95
What is pseudogout (aka chondrocalcinosis)?
-deposition of calcium pyrophosphate crystals
96
What is the demographic of those affected by pseudogout (aka chondrocalcinosis)?
- age over 50 yrs
| - 60% of those over age 80 are affected
97
What are some risk factors for secondary chondrocalcinosis (Pseudogout)?
- previous joint damage
- hyperparathyroidism
- hemochromatosis
- hypothyroidism
- diabetes
- ochronosis (seen in alkaptonuria)
98
What is the clinical presentation of chondrocalcinosis?
-crystals form a chalky, white friable deposit
99
What is seen on histology of chondrocalcinosis?
- oval blue/purple aggregates
| - individual crystals are rhomboid and are positively birefringent (uric acid crystals in gout are NOT)
100
What is a ganglion cyst?
- fluctuant, but firm pea-sized translucent nodule
- result of cystic or myxoid degeneration
- cyst wall lacks cell lining
- most commonly on the wrist
101
What is a synovial cyst?
- herniation of the synovium through the joint capsule
| ex: Baker cyst in the popliteal space of RA patients
102
True or False: soft tissue sarcomas are aggressive.
True; they are less than 1% of all cancers, but account for 2% of the mortality
103
Where are soft tissue sarcomas typically located?
-in the extremities (especially the thigh)
104
What tumor suppressor gene and associated syndromes are linked to soft tissue sarcomas?
- NF1
- -Gardner
- -Li Fraumani
- -Osler-Weber-Rendu
105
What types of environmental exposures are related to soft tissue sarcomas?
- radiation
- burns
- toxins
106
What is a lipoma?
- benign tumor or adipose tissue
- soft, mobile, painless
- most common soft tissue tumor of adults
- encapsulated, normal-appearing adipose tissue
107
What is a liposarcoma?
- -a common malignant soft tissue tumor in adults
| - -typically affects those ages 50-60
108
Where in the body are liposarcomas most common?
- deep soft tissue of proximal extremities
| - retroperitoneum
109
What is the genetic mutation for a well-differentiated liposarcoma and for a myxoid liposarcoma?
Well-differentiated (indolent)
- -12q13-q15
- -key genes in this region is MDM2 which encodes an inhibitor of p53
Myxoid (most common)
--t(12;16)
110
True or False: liposarcomas recur locally and repeatedly, unless completely excised
True
111
What are the characteristics of Nodular Fasciitis?
--self-limited fibroblastic and myofibroblastic proliferation
--most common in young adults in upper extremities
112
What is the result of palmar fibromatoses?
- Dupuytren Contracture
| - -slowly progressive flexion contracture of 4th & 5th fingers
113
What is the result of penile fibromatoses?
- Peyronie Disease
- -on the dorsolateral aspect of the penis
--may cause abnormal curvature of shaft or constriction of urethra
114
What is a Desmoid Tumor?
- deep fibromatosis that is large and infiltrative
- occurs mostly in women in teens through 30's
- mutations in the APC or B catenin genes
115
What syndrome puts people more at risk of developing Desmoid Tumors?
- familial adenomatous polyposis (Gardner Syndrome)
| - -germline APC mutations
116
What is seen on histology of a fibrosarcoma?
-uniform spindle cells arranged in herringbone fascicles
117
What are the three types of rhabdomyosarcoma?
Alveolar: KIDS
-fusion of the FOX01 gene to PAX3 or PAX7
Embryonal: KIDS (most common)
- rhabdomyoblasts (cross striations)
- sarcoma botryoides (cambium layer)
Pleiomorphic: adults
118
Where do rhabdomyosarcomas usually occur (in kids)?
- sinuses
- head and neck
- GU tract
119
What are the characteristics of a leiomyoma?
- benign smooth muscle tumor
| - in uterus, fibroid (most common neoplasm in women)
120
What is Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome?
- autosomal dominant
- multiple cutaneous leiomyomas
- uterine leiomyomas
- renal cell carcinoma
- loss of function mutation in chr 1q42.3
121
What are the characteristics of leiomyosarcomas?
- 15% of soft tissue sarcomas
- adult women
- extremities and retroperitoneum
- metastasizes to the lung
122
What are the characteristics of a synovial sarcoma?
-found near joints, in chest wall, head, and neck
-common in 20's through 40's
-deep mass present for years
+ for keratin and epithelial markers
-metastasize to lungs
