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NMSP 2 > Bones, Joints, and Soft Tissues (pt 2) > Flashcards

Bones, Joints, and Soft Tissues (pt 2) Flashcards

1
Q

What is the most common benign bone tumor?

A

osteochondroma

exostosis, a bony projection

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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

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3
Q

What gene mutation is associated w/ osteochondroma?

A

EXT1
EXT2

-encodes heparin sulfate glycosaminoglycans

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4
Q

What part of the bone is most commonly afflicted by osteochondromas?

A

-the metaphysis near the growth place of tubular bones

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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.

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6
Q

Is the medullary cavity continuous in a osteochondroma?

A

Yes

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7
Q

What are the characteristics of an osteochondroma?

A
  • can be sessile or pedunculated

- bluish cartilage cap covers the bony cortex

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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
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9
Q

What parts of the bones may be afflicted by enchondromas?

A
  • medullary cavity

- or on the surface (subperiosteal or juxtacortical)

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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

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11
Q

What genes are mutated in endochondromas?

A

IDH1 and IDH2

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12
Q

What demographic is typically affected by chondrosarcoma?

A
  • males (2:1)

- 40+ yrs of age

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13
Q

Where in the body are chondrosarcomas most common?

A
  • AXIAL SKELETON
  • -pelvis
  • -SHOULDERS
  • -ribs
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14
Q

What are the characteristics of chondrosarcoma?

A
  • invade locally
  • painful enlarging mass
  • may metastasize
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15
Q

If a chondrosarcoma metastasizes, where does it usually metastasize to?

A
  • lungs

- 70% of Grade 3 chondrosarcomas spread hematogenously

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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
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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)

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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)

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19
Q

What is the most common demographic to be affected by osteoid osteomas?

A

-young men, teens, and 20’s

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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
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21
Q

What is the treatment for osteoid osteoma?

A

-radiofrequency ablation

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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
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23
Q

What is the treatment for osteoblastoma?

A

-curetted or excised en bloc

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24
Q

True or False: osteoblastomas commonly transform into a malignancy

A

False; malignant transformation is rare.

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25
Q

What is the most common primary malignant tumor of bone?

A

osteosarcoma

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26
Q

What is the clinical presentation of osteosarcoma?

A
  • painful, enlarging mass

- usually around the knee

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27
Q

What is the typical demographic of osteosarcoma?

A
  • 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%
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28
Q

What gene is commonly mutated in sporadic osteosarcoma?

A

-70% have an Rb gene mutation

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29
Q

What gene is mutated in osteosarcomas that are associated with Li-Fraumani Syndrome (and breast cancer)?

A

TP53

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30
Q

What is shown on an x-ray of osteosarcoma?

A
  • mixed lytic and blastic mass

- Codman Triangle (elevation of periosteum)

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31
Q

Where does osteosarcoma commonly metastasize?

A

hematogenous spread to the lungs

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32
Q

What is the most common demographic for Ewing Sarcoma?

A
  • 80% occur in those younger than 20yrs

- striking predilection for whites

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33
Q

What is the clinical presentation of Ewing Sarcoma?

A
  • painful enlarging mass
  • warm and swollen
  • fever
  • elevated ESR
  • mimics an infection
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34
Q

What do you see on x-ray in Ewing Sarcoma?

A
  • periosteal rxn

- -reactive bone in “onion skin” fashion

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35
Q

What part of the skeleton is most commonly affected by Ewing Sarcoma?

A
  • diaphysis of long bones (esp. femur)

- arises in the medullary cavity and invades the cortex

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36
Q

What is the gene mutation associated w/ Ewing Sarcoma?

A

t(11;22)(q24:q12)

EWS-FL11

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37
Q

What is an important prognostic indication in the treatment of Ewing Sarcoma?

A

-the more chemo-induced necrosis, the better the prognosis

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38
Q

What is fibrous dysplasia?

A

-benign proliferation of fibrous tissue and bone that do not mature

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39
Q

Are the majority of fibrous dysplasias monostotic or polyostotic?

A

70% are monostotic and usually asymptomatic

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40
Q

What is the demographic of those affected by fibrous dysplasia?

A
  • early adolescence when the growth plate closes

- affects males and females equally

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41
Q

What parts of the skeleton are most affected by fibrous dysplasia?

A
  • craniofacial bones
  • femur or tibia
  • ribs
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42
Q

What is seen on radiographic imaging of fibrous dysplasia?

A
  • -ground glass appearance

- -well-defined margins

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43
Q

What is McCune-Albright Disease?

A

-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
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44
Q

What is Mazabraud Syndrome?

A

-a syndrome that includes fibrous dysplasia

  • -polyostotic fibrous dysplasia
  • -multiple skeletal deformities in childhood
  • -intramuscular soft tissue myxomas
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45
Q

What is seen on H and E stain of fibrous dysplasia?

A
  • curvilinear trabeculae

- “chinese characters”

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46
Q

What is an osteoclastoma (giant cell tumor of bone)?

A
  • consists of multinucleated osteoclast-type giant cells
  • may be of monocyte/macrophage derivation

(also need to consider a brown tumor of hyperparathyroidism in ddx)

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47
Q

What demographic is typically affected by osteoclastomas?

A

ages 20-40

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48
Q

What parts of the skeleton are most commonly affected by osteoclastomas?

A
  • epiphysis (may extend into metaphysis) of long bones
  • -knee: distal femur, and tibia
  • -cause arthritis-like symptoms
  • -may cause pathological fractures
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49
Q

What percentage of osteoclastomas tend to recur after curetage?

A

50%

50
Q

What is the most common form of skeletal malignancy and where is it most commonly found?

A
  • metastases to bone

- axial skeleton

51
Q

What primary tumors in adults cause the most metastatic lesions in bone?

A
  • prostate
  • breast
  • kidney
  • lung
52
Q

What primary cancers in kids cause the most metastatic lesions in bone?

A
  • neuroblastoma
  • Wilms
  • osteosarcoma
  • Ewing Sarcoma
  • rhabdomyosarcoma
53
Q

Which types of metastatic cancers to bone tend to have solitary tumors in the bone?

A
  • kidney

- thyroid

54
Q

Where in the skeleton do lung, kidney, and colon cancers tend to metastasize to?

A

-small bones of hands and feet

55
Q

How do metastatic tumors to the bone appear on radiography?

A
  • lytic (bone destroying)

- except prostatic adenocarcinoma is blastic

56
Q

What are the characteristics of a solid (nonsynovial) joint, aka synarthroses?

A
  • 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
Q

What are the characteristics of synovial joints?

A
  • 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
Q

What are the characteristics of rheumatoid arthritis and osteoarthritis that differentiate them from each other?

A

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
Q

What is the cause of primary osteoarthritis?

A
  • aging

- rate increases exponentially after age 50

60
Q

What joints does osteoarthritis tend to affect in women and in men?

A

Women: hands and knees
Men: hips

61
Q

What is the pathogenesis of osteoarthritis?

A
  • 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
Q

What happens to the bones that have been exposed due to the wear and tear of the cartilage in osteoarthritis?

A
  • bone tries to buttress stress
  • microfractures
  • subchondral cysts

-formation of osteophytes (nerve root compression, radicular pain, and neuro deficits)

63
Q

What is the definition of ankylosis?

A

-joint stiffness due to abnormal adhesion and rigidity of the bones of the joint, which may be the result of injury or disease

64
Q

What tests, if positive, support the diagnosis of rheumatoid arthritis?

A

+rheumatoid factor
+CCP antibodies (anti-cyclic citrullinated peptide)

(also ESR and CRP)

65
Q

What physical deformities can be seen in rheumatoid arthritis?

A
  • -Boutonniere: hyperextended DIP; flexed PIP
  • -Swan-Neck: flexed DIP; hyperextended PIP
  • -ulnar deviation of the fingers
  • -radial deviation of the wrist
66
Q

What is seen in joint pathology of patients with rheumatoid arthritis?

A
  • pannus: edematous, thickened, hyperplastic synovium
  • synovial hypertrophy w/ villi
  • lymphoid aggregates
67
Q

What can be seen as a cutaneous symptoms of rheumatoid arthritis?

A
  • rheumatoid nodule on the extensor surfaces at pressure points
  • extra articular lesions have central necrosis and palisading histiocytes
68
Q

What physical deformities can be seen in osteoarthritis?

A
  • Heberden nodes

- Bouchard nodes

69
Q

What are seronegative spondyloarthropathies and how do they differ from rheumatoid arthritis and osteoarthritis?

A

-affect the LIGAMENTOUS ATTACHMENTS
(rather than the synovium)

  • negative rheumatoid factor
  • associated w/ HLA B27
70
Q

What are the characteristics of ankylosing spondylitis?

A
  • -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
Q

What is the common triad of symptoms in Reactive Arthritis?

A

1) arthritis
2) urethritis or cervicitis
3) conjunctivitis

Cardiac Symptoms: cardiac conduction abnormalities and aortic regurgitation

72
Q

What are the characteristics of Reactive Arthritis?

A
  • 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
Q

What are the characteristics of Enteritis-Associated Arthritis?

A
  • Yersinia, Salmonella, Shigella, Campy
  • LPS of cell membrane stimulate
  • appears suddenly
  • lasts about a year
  • knees, ankles
74
Q

What are the characteristics of psoriatic arthritis?

A
  • peripheral and axial joints

- HLA B27

75
Q

What is the demographic of those affected by Psoriatic Arthritis?

A
  • ages 30-50

- affects 20% of those with psoriasis

76
Q

What type of skeletal deformity is seen in those with Psoriatic Arthritis?

A

-“pencil in cup” deformity in the DIP’s

77
Q

What changes do you see in the nails of those with psoriatic arthritis?

A
  • thick, rough, and rigid
  • discolored
  • develop pits
  • onycholysis
78
Q

How does infectious arthritis occur?

A
  • microorganisms seed joints via hematogenous spread
  • or direct inoculation
  • or contiguous spread from soft tissue abscess or an area of osteomyelitis
79
Q

What is the progression and final consequence of infectious arthritis?

A
  • rapid joint destruction

- permanent deformities

80
Q

In patients under the age of two years old with suppurative arthritis, what is the main organism?

A

H flu

81
Q

In older kids and adults with suppurative arthritis, what are the main organisms responsible?

A

-Staph aureus

  • Gonococcus (in late adolescence and early adults)
  • -more prevalent in sexually active women
  • -those with MAC deficiency more susceptible
82
Q

What is the clinical presentation of suppurative arthritis?

A
  • acutely painful and swollen joint
  • restricted range of motion
  • fever
  • leukocytosis
  • increased ESR
83
Q

Does suppurative arthritis tend to affect a single joint or multiple joints?

A
  • single joint

- -usually a knee

84
Q

How is suppurative arthritis diagnosed?

A
  • 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
Q

What are the characteristics of suppurative arthritis caused by mycobacterium?

A
  • insidious onset
  • gradual progressive pain
  • usually hip
86
Q

What are the characteristics of suppurative arthritis caused by Lyme Disease?

A
  • 70% develop it days/weeks after the skin lesion

- usually knees

87
Q

What are some viral causes of suppurative arthritis?

A
  • HIV
  • HBV
  • HCV
  • EBV
  • parvo B19
  • rubella
88
Q

What is gout?

A

-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
Q

What risk factors lead to the development of gout?

A
  • age (gout appears after 20-30yrs of hyperuricemia)
  • genetic predisposition
  • heavy alcohol consumption
  • obesity
  • drugs (ex: thiazide diuretics)
  • lead toxicity
90
Q

Which is more prevalent, primary gout or secondary gout?

A

primary

91
Q

What are some causes of secondary gout?

A
  • -leukemia
  • -chronic renal disease
  • -Lesch-Nyhan Syndrome
  • -HGPRT deficiency
92
Q

What is seen on and H and E stain that is pathognomonic for gout?

A

-gouty tophus

urate crystals can be seen under polarized light

93
Q

What joint is most commonly affected by gout?

A

-half of the cases are in the first metatarsophalangeal joint

94
Q

What are the clinical symptoms of gout?

A
  • excruciating joint pain
  • localized hyperemia
  • warmth
95
Q

What is pseudogout (aka chondrocalcinosis)?

A

-deposition of calcium pyrophosphate crystals

96
Q

What is the demographic of those affected by pseudogout (aka chondrocalcinosis)?

A
  • age over 50 yrs

- 60% of those over age 80 are affected

97
Q

What are some risk factors for secondary chondrocalcinosis (Pseudogout)?

A
  • previous joint damage
  • hyperparathyroidism
  • hemochromatosis
  • hypothyroidism
  • diabetes
  • ochronosis (seen in alkaptonuria)
98
Q

What is the clinical presentation of chondrocalcinosis?

A

-crystals form a chalky, white friable deposit

99
Q

What is seen on histology of chondrocalcinosis?

A
  • oval blue/purple aggregates

- individual crystals are rhomboid and are positively birefringent (uric acid crystals in gout are NOT)

100
Q

What is a ganglion cyst?

A
  • fluctuant, but firm pea-sized translucent nodule
  • result of cystic or myxoid degeneration
  • cyst wall lacks cell lining
  • most commonly on the wrist
101
Q

What is a synovial cyst?

A
  • herniation of the synovium through the joint capsule

ex: Baker cyst in the popliteal space of RA patients

102
Q

True or False: soft tissue sarcomas are aggressive.

A

True; they are less than 1% of all cancers, but account for 2% of the mortality

103
Q

Where are soft tissue sarcomas typically located?

A

-in the extremities (especially the thigh)

104
Q

What tumor suppressor gene and associated syndromes are linked to soft tissue sarcomas?

A
  • NF1
  • -Gardner
  • -Li Fraumani
  • -Osler-Weber-Rendu
105
Q

What types of environmental exposures are related to soft tissue sarcomas?

A
  • radiation
  • burns
  • toxins
106
Q

What is a lipoma?

A
  • benign tumor or adipose tissue
  • soft, mobile, painless
  • most common soft tissue tumor of adults
  • encapsulated, normal-appearing adipose tissue
107
Q

What is a liposarcoma?

A
  • -a common malignant soft tissue tumor in adults

- -typically affects those ages 50-60

108
Q

Where in the body are liposarcomas most common?

A
  • deep soft tissue of proximal extremities

- retroperitoneum

109
Q

What is the genetic mutation for a well-differentiated liposarcoma and for a myxoid liposarcoma?

A

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
Q

True or False: liposarcomas recur locally and repeatedly, unless completely excised

A

True

111
Q

What are the characteristics of Nodular Fasciitis?

A

–self-limited fibroblastic and myofibroblastic proliferation

–most common in young adults in upper extremities

112
Q

What is the result of palmar fibromatoses?

A
  • Dupuytren Contracture

- -slowly progressive flexion contracture of 4th & 5th fingers

113
Q

What is the result of penile fibromatoses?

A
  • Peyronie Disease
  • -on the dorsolateral aspect of the penis

–may cause abnormal curvature of shaft or constriction of urethra

114
Q

What is a Desmoid Tumor?

A
  • 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
Q

What syndrome puts people more at risk of developing Desmoid Tumors?

A
  • familial adenomatous polyposis (Gardner Syndrome)

- -germline APC mutations

116
Q

What is seen on histology of a fibrosarcoma?

A

-uniform spindle cells arranged in herringbone fascicles

117
Q

What are the three types of rhabdomyosarcoma?

A

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
Q

Where do rhabdomyosarcomas usually occur (in kids)?

A
  • sinuses
  • head and neck
  • GU tract
119
Q

What are the characteristics of a leiomyoma?

A
  • benign smooth muscle tumor

- in uterus, fibroid (most common neoplasm in women)

120
Q

What is Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome?

A
  • autosomal dominant
  • multiple cutaneous leiomyomas
  • uterine leiomyomas
  • renal cell carcinoma
  • loss of function mutation in chr 1q42.3
121
Q

What are the characteristics of leiomyosarcomas?

A
  • 15% of soft tissue sarcomas
  • adult women
  • extremities and retroperitoneum
  • metastasizes to the lung
122
Q

What are the characteristics of a synovial sarcoma?

A

-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

NMSP 2 (3 decks)

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