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NMSP Week 4/5 > Bones, Joints, and Soft Tissue Part 2 (Dr. Martin) > Flashcards

Bones, Joints, and Soft Tissue Part 2 (Dr. Martin) Flashcards

1
Q

What is the most common benign bone tumor?

A

Osteochondroma aka exostosis

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2
Q

Where are osteochondromas located?

At what age are they post prevalent?

What sex is it more common in?

A

1) Metaphysis near growth plate of tubular bone
2) Early adulthood
3) Men

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3
Q

Germline loss of function of what genes are associated with the sporadic form of osteochondroma?

A

EXT1 or EXT2

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4
Q

Multiple Hereditary Exostosis Syndrome is when the osteochondromas progress to?

What is the inheritance pattern?

A

1) Chondrosarcoma

2) AD

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5
Q

What are benign tumors of hyaline cartilage that usually occur in bones of enchondral origin?

A

Chondroma/enchondroma

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6
Q

Where are enchondromas located?

What mutation is it associated with?

A

1) Within medullary cavity

2) IDH1 and IDH2 mutations

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7
Q

What is Ollier syndrome characterized by?

What is Maffucci syndrome characterized by?

A

1) Multiple enchondromas

2) Multiple enchondroma and angiomas

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8
Q

What can Maffucci syndrome increase the risk of?

A

Chondrosarcoma

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9
Q

Enchondromas are composed of nodules of?

A

Hyaline cartilage

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10
Q

What are the second most common malignant matrix producing tumor of bone?

A

Chondrosarcoma

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11
Q

Where are chondrosarcomas located?

A

Axial skeletons (pelvis, shoulders, ribs)

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12
Q

70% of Grade 3 chondrosarcomas will spread hematogenously, especially to what organ?

A

Lungs

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13
Q

What population is most commonly affected by chondrosarcomas?

A

Male patients older than 40

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14
Q

How do chondrosarcomas appear on imaging?

A

Foci of flocculent densities

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15
Q

All Bone Forming Tumors produce?

A

Unmineralized osteoid matrix or mineralized woven bone

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16
Q

Osteoid osteomas are benign, bone forming tumor that have what classic presentation?

A

1) Severe nocturnal pain

2) Relieved by aspirin and NSAIDs

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17
Q

The severe nocturnal pain associated with osteoid osteoma is due to?

A

Osteoblast production of excess PGE2

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18
Q

By definition, osteoid osteomas are what size in dimension?

If they are greater than this size they are called?

A

1) <2 cm

2) Osteoblastoma

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19
Q

What radiographic clue points towards osteoid osteoma?

A

Thick rind of reactive cortical bone

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20
Q

Osteoblastomas are benign, bone forming tumor that have what classic presentation?

A

1) Greater than 2 cm

2) Not responsive to aspirin

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21
Q

What is the most common primary malignant tumor of bone?

A

Osteosarcoma

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22
Q

How do osteosarcomas usually present?

A

Painful enlarging mass around the knee

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23
Q

Osteosarcomas affect what age group?

A

Less than 20 years old

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24
Q

What most commonly predisposes a patient to osteosarcoma?

What gene increases the risk of osteosarcoma?

What syndrome increases the risk?

A

1) Prior radiation
2) RB gene
3) Li-Fraumani syndrome (breast cancer, TP53 gene)

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25
Q

What is seen on imaging for osteosarcoma?

What is morphologically diagnostic of osteosarcoma?

A

1) Codman triangle (elevation of periosteum)

2) Formation of bone by tumor cells

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26
Q

Osteosarcoma most commonly metastasizes to?

A

Lungs

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27
Q

What are the second most common group of bone sarcomas in children?

A

Ewing Sarcoma Family Tumors (ESFT)

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28
Q

Ewing Sarcoma Family Tumors (ESFT) have a striking predilection for what race?

A

Whites

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29
Q

How are ESFT morphologically characterized?

A

Small blue round cell tumor

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30
Q

Due to a periosteal reaction, what does ESFT show on imaging?

A

Reactive bone in onion-skin fashion

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31
Q

What mutation is associated with ESFT?

What fusion gene is generated?

A

1) t(11;22)(q24;q12)

2) EWS-FLI1

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32
Q

What is an important prognostic factor with ESFT?

A

Chemotherapy induced necrosis

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33
Q

If homer Wright rosettes are seen with ESFT, what does this indicate?

A

Neuroectodermal differentiation (PNET)

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34
Q

What are benign proliferation of fibrous tissue and bone that do not mature and are mostly seen in early adolescence?

A

Fibrous dysplasia

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35
Q

How is fibrous dysplasia described radiographically?

A

Ground glass appearance, well defined margins

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36
Q

Fibrous dysplasia can be seen in what polyostotic disease associated with café-au-lait skin pigmentations and endocrine abnormalities, especially precocious puberty?

What mutation is associated with it?

A

1) McCune Albright disease

2) GNAS

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37
Q

Fibrous dysplasia can be seen in what polyostotic disease associated with multiple skeletal deformities in childhood and soft tissue myxomas?

A

Mazabraud syndrome

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38
Q

With McCune Albright syndrome, what is the most common clinical presentation, especially in girls?

A

Precocious puberty (early puberty)

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39
Q

What rare complication can occur with fibrous dysplasia?

A

Malignant transformation of a lesion into sarcoma

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40
Q

How are giant cell tumor of bone described?

A

Osteoclastoma, multinucleated osteoclast type giant cells

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41
Q

What location do osteoclastomas affect?

A

Arise in epiphyses of long bones

42
Q

Osteoclastomas tend to recur (40-60%) after what procedure?

A

Curettage

43
Q

What is the most common form of skeletal malignancy?

A

Metastatic tumor to bone

44
Q

75% of bone metastases in adults come from?

A

Prostate, breast, kidney and lung

45
Q

Where are majority of bone metastases located?

Carcinomas of the lung, kidney, and colons like to spread to?

A

1) Axial skeleton

2) Small bones of hands and feet

46
Q

How do bone metastases appear on imaging?

What is the one exception?

What does this exception appear as?

A

1) Lytic (bone destroying)
2) Prostatic adenocarcinoma
3) Blastic (bone forming)

47
Q

What is the most common type of joint disease?

A

Osteoarthritis

48
Q

Osteoarthritis is mostly due to?

Where does it affect the most in women?

In men?

It is a disease of?

A

1) Aging
2) Hands and knees
3) Hips
4) Cartilage wear and tear

49
Q

How does osteoarthritis present?

A

1) Evening stiffness
2) Crepitus
3) Worse with use

50
Q

Bouchard’s nodes is a degenerative joint disease/osteoarthritis that affects?

Heberden nodes affect?

A

1) Proximal IP joins

2) Distal IP joints

51
Q

In regards to the morphology of osteoarthritis, what term is used to describe dislodged fragments of cartilage?

What term is used to describe subchondral bone exposed and rubbed smooth (bone on bone pain)?

What term is used to describe mushroom-shaped bony outgrowths that cause nerve root compression?

A

1) Joint mice
2) Bone eburnation
3) Osteophytes

52
Q

While deformity may occur with osteoarthritis, what differentiates OA from rheumatoid arthritis by not occurring?

A

Fusion/ankylosis

53
Q

What population is most affected by rheumatoid arthritis?

A

Females in their 20s-40s

54
Q

RA causes the destruction of?

A

Articular cartilage

55
Q

What HLA is associated with RA?

What cytokine is firmly implicated in the pathogenesis of RA?

A

1) HLA-DR4

2) TNF

56
Q

When does the joint stiffness occur in RA which differentiates it from OA?

A

Morning

57
Q

In the pathogenesis of RA, many of the autoantibodies produced are specific for?

A

Citrullinated peptides (CCPs)

58
Q

RA results in symmetric arthritis principally affecting what joints?

A

Small joints of the hand and feet

59
Q

What joint deformities are characteristic of RA?

A

1) Boutonniere (Flexion of PIP)
2) Swan-neck (Hyperextension of PIP)
3) Ulnar deviation of fingers
4) Radial deviation of wrist

60
Q

In RA joint pathology what are characterized as edematous, thickened, hyperplastic synovium?

A

Pannus

61
Q

What occur in 25% of RA patients (severe disease) that are firm, nontender, round/oval?

A

Rheumatoid nodule

62
Q

1) OA is the disease of?
2) RA is the disease of?
3) OA affects what joints?
4) RA affects what joints?
5) Which is inflammatory?
6) Which has Heberden’s and Bouchard nodes?
7) Which has swan-neck deformities and ulnar deviation?
8) When does OA joint stiffness felt the most?
9) When does RA joint stiffness felt the most?
10) What makes OA worse?
11) What makes RA worse?

A

1) Cartilage
2) Synovium
3) Large weight bearing joints
4) Small symmetrical joints
5) RA
6) OA
7) RA
8) Evening
9) Morning
10) Activity
11) Rest

63
Q

What causes a T-cell response that causes pathologic changes in the ligamentous attachments, rather than synovium?

A

Seronegative spondyloarthropathies

64
Q

Seronegative spondyloarthropathies have what HLA association?

A

HLA-B27

65
Q

Which seronegative spondyloarthropathies is the most sensitive for HLA-B27 and signs and symptoms arise in those in their 20-30’s as low back pain and spinal immobility?

A

Ankylosing Spondylitis

66
Q

What is seen on imaging for Ankylosing Spondylitis?

A

Bamboo spine due to fusion of vertebrae

67
Q

Which seronegative spondyloarthropathies follows a STD or bloody diarrhea due to a prior GU or GI infection and presents with low back pain and joint stiffness?

A

Reactive Arthritis

68
Q

Reactive Arthritis presents with a triad of what symptoms?

A

1) Arthritis
2) Urethritis or cervicitis
3) Conjunctivitis

69
Q

Enteritis Associated Arthritis is associated with?

A

IBD (UC and Chron’s)

70
Q

What confers susceptibility to Psoriatic Arthritis?

A

1) HLA-B27

2) HLA-Cw6

71
Q

What deformity is seen in the DIPs with Psoriatic Arthritis?

A

Pencil in cup

72
Q

A 35 year old male presents with joint pain and nail changes, what is the most likely diagnosis?

A

Psoriatic Arthritis

73
Q

What is the most common overall cause of suppurative arthritis?

A

Staphylococcus Aureus

74
Q

Where is the most common location of non-gonococcal suppurative arthritis?

A

Knee

75
Q

What is diagnostic of suppurative arthritis?

A

Joint aspiration with purulent fluid

76
Q

Borrelia burgdorferi causes what form of arthritis?

A

Lyme arthritis

77
Q

Gout is characterized by transient attacks of acute arthritis initiated by crystallization of?

A

Monosodium urate

78
Q

What are the hyperuricemia plasma levels seen with gout?

A

> 6.8 mg/dl

79
Q

What produces uric acid?

A

Purine catabolism

80
Q

What are some other factors in addition to hyperuricemia that lead to symptomatic gout?

A

1) Obesity

2) Heavy alcohol consumption

81
Q

Release of what cytokine is involved in the inflammation process of gout?

A

IL-1

82
Q

What is the pathognomonic lesion of gout?

A

Tophi

83
Q

Calcium Pyrophosphate Crystal Deposition disease (CPPD) aka pseudogout or chondrocalcinosis has an increase in incidence with?

A

Age (Patients > 50)

84
Q

What do the crystals seen with pseudogout form?

A

Chalky, white friable deposits

85
Q

Between gout and pseudogout, which has crystals that are positively birefringent?

A

Pseudogout (gout is negative)

86
Q

What are small (1-1.5cm), multi-loculated, cystic or myxoid lesions of connective tissue near joint capsules (wrist)?

A

Ganglion Cyst

87
Q

What results form herniation of synovium through joint capsule?

Which form of this is located in the popliteal fossa and is associated with RA?

A

1) Synovial cyst

2) Baker cyst

88
Q

What adult tumors have complex karyotypes, tend to be pleomorphic and genetically heterogenous with a poor prognosis?

A

Sarcomas

89
Q

What benign tumor of adipose tissue is the most common soft tissue tumor of adulthood?

A

Lipoma

90
Q

What is one of the most common sarcomas of adulthood?

A

Liposarcoma

91
Q

Liposarcoma is due to an amplification of what chromosome?

What key gene that encodes an inhibitor p53 is located here?

A

1) 12q13-q15

2) MDM2

92
Q

Nodular Fasciitis which is seen in young adults in the upper extremity is characterized by what mutation?

A

t(22;17)

93
Q

Palmar Fibromatosis (Dupuytren’s Contracture) is characterized by slow, progressive flexion contracture that affects what digits of the hand?

A

The 4th and 5th digits

94
Q

What mutation is seen with Deep Fibromatosis (desmoid tumors)?

Individuals with what syndrome are predisposed to deep fibromatosis?

A

1) APC or β-catenin mutations

2) Gardner syndrome (FAP)

95
Q

What malignant SKM tumor is the most common soft tissue sarcoma of childhood?

A

Rhabdomyosarcoma

96
Q

What mutation is seen with alveolar rhabdomyosarcoma?

A

FOXO1 fusion to PAX3 (2;13) or PAX7 (1;13)

97
Q

Embryonal rhabdomyosarcoma which are more common, are seen in what system?

What appearance does it have?

A

1) GU tract

2) Grape-like

98
Q

Sarcoma Botryoides which is a variant of embryonal rhabdomyosarcoma, forms what layer on organ mucosa?

A

Cambium layer

99
Q

Which subtype of rhabdomyosarcoma has the best outcome?

A

Sarcoma Botryoides

100
Q

What are benign smooth muscle tumors and are the most common neoplasm in women?

A

Leiomyoma (uterine leiomyoma are the most common neoplasm in women)

101
Q

Hereditary Leiomyomatosis & Renal Cell Carcinoma Syndrome is an AD condition that causes what enzyme to be deficient?

A

Fumarate hydratase

102
Q

Synovial sarcoma which occurs in those that are 20-40 is positive for what markers?

A

Epithelial markers such as keratins

NMSP Week 4/5 (13 decks)

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