Pathology Quiz > MSK > Flashcards

MSK Flashcards

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1
Q

Most common forms of osteoporosis

A

Senile (low turnover) and post menopausal (high turnover)

Both are primary forms. Multiple diseases cause secondary osteopenia/porosis

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2
Q

Two common causes of osteonecrosis

A

Fracture, corticosteroids

Others: alcohol, bisphosphonate therapy, connective tissue disease, chronic pancreatitis, Gaucher disease, pregnancy, radiation, sickle cell crisis, tumours, decompression sickness (Caisson), SLE, infection/idiopathic

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3
Q

Common bacterial spread for osteomyelitis in children?

A

Haematogenous spread

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4
Q

Common bacterial spread for osteomyelitis in adults?

A

Contiguous spread / direct implant (woulds, open fracture, surgery)

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5
Q

Most common bacteria in osteomyelitis

A

Staph aureus (80-90% of culture positive)

GU infection/IVDU: E.coli, pseudomonas, Klebsiella

Neonates: H. Influenzae, group B strep

Sickle cell disease: Salmonella

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6
Q

Typical osteosarcoma age & location

A

Bimodal, but mainly 20s

Metaphysis of long bones, near the knee

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7
Q

Typical demographics/location of chondrosarcoma

A

> 40, males, pelvis and proximal extremities

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8
Q

Most common bone tumours

A

Metastases & haematopoietic tumours

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9
Q

Most common primary bone tumours

A

Osteosarcoma, chondrosarcoma, Ewing sarcoma

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10
Q

Typical demographics/location of osteoid osteomas

A

Young men, appendicular skeleton, 50% involving cortex of femur or tibia

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11
Q

Most common primary malignant bone tumour

A

Osteosarcoma

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12
Q

Most common benign bone tumour

A

Osteochondroma (exostosis)

Second most common is enchondroma

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13
Q

Typical demographics/location of osteochondroma

A

Young males, metaphysis long bones, about knee

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14
Q

Genes for multiple hereditary exostosis syndrome

A

Loss of function mutations in EXT1 and EXT2 (autosomal dominant)

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15
Q

Typical location of enchondromas

A

Solitary in metaphysis of tubular bones in the hands and feet

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16
Q

Genes associated with enchondroma

A

IDH1 and IDH2

Can cause transformation by association of neighbouring cells

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17
Q

Second most malignant matrix-producing bone tumour

A

Chondrosarcoma

Types: clear cell, dedifferentiated, conventional, mesenchymal

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18
Q

Typical demographics/location of Chondrosarcoma

A

40 year old +, male, pelvis and proximal extremities

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19
Q

Most common type of chondrosarcoma

A

Conventional (15% of which are secondary from enchondroma or osteochondroma)

Clear cell and mesenchymal often present in younger people. Clear cell also originates at the epiphysis of long bones. Mesenchymal + dedifferentiated are more aggressive

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20
Q

Genes involved on chondrosarcoma

A

EXT, IDH1, IDH2, CDKN2A

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21
Q

Morphology of the types of chondrosarcoma

A

Conventional - myxoid matrix, calcifications, necrosis, cystic spaces

Dedifferentiated- low-grade with a second higher-grade component which doesn’t produce cartilage

Clear cell - sheets of malignant chondrocytes, giant cells and intralesional bone formation

Mesenchymal - islands of hyaline cartilage surrounded by sheets of primitive small round cells

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22
Q

Second most common bone sarcoma in children

A

Ewings

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23
Q

Typical location for Ewings sarcoma

A

Diaphysis of long tubular bones and flat bones of pelvis. Located in the medulla

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24
Q

Gene for Ewings sarcoma

A

90% have balanced translocation of EWSR1 gene on chromosome 22. Often with FLI1 on chromosome 11

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25
Morphology of Ewing sarcoma
Small round blue cells with scant cytoplasm. Can have haemorrhage & necrosis. Homer-Wright rosettes when present indicate neuroectodermal differentiation
26
Positive prognostic indicator in Ewings sarcoma
Chemotherapy induced necrosis
27
Pathogenesis of giant cell tumour
Neoplastic primitive osteoblast precursors with high levels of RANKL. These induce non-neoplastic osteoclasts to proliferate and mature, therefore most cells are non-neoplastic
28
Gene involved in giant cell tumour
Gene encoding histone 3.3
29
Typical location for giant cell tumour
Develop within the epiphysis and may spread to the metaphysis, around the knee (but can be any bone)
30
Gene involved in aneurysmal bone cyst
70% have 17p13 rearrangements in plump spindle cells, often resulting in fusion of USP6 with gene promoters
31
What is blue bone?
Densely calcified, basophilic metaplastic matrix seen in 1/3 of aneurysmal bone cysts
32
Location of fibrous cortical defect / non-ossifying fibroma
Eccentric, metaphysis, distal femur or proximal tibia Half are bilateral or multiple
33
Fibrous dysplasia patterns
Monostotic Polyostotic Mazabraud (often polyostotic + soft tissue myxoma) McCune-Albright (polyostotic + cafe-au-lait spots + endocrine abnormalities like precocious puberty)
34
Genes involved in fibrous dysplasia
GNAS1 somatic gain-of-function mutation N.B. Also mutated in pituitary adenomas
35
Diagnostic marker for rheumatoid arthritis
Anti-citrullinated peptide antibodies (ACPAs) in 70% IgG and IgM autoantibodies in 80% (collectively called rheumatoid factor)
36
Serum markers for juvenile idiopathic arthritis
ANA, some rheumatoid factor
37
Ankylosing spondylitis demographics/locations
20-30, male, HLA-B27 (90%), sacroiliac joints and vertebral apophyseal joints 1/3 involve knee, hips or shoulders
38
Most common pathogen of suppurative arthritis in <2 year olds
H. Influenzae
39
Late adolescent and young adulthood suppurative arthritis organism
Gonococcus
40
Salmonella suppurative arthritis affects patients with which disease?
Sickle cell disease
41
Gene associated with CPPD
Gain-of-function mutation ANKH, autosomal dominant
42
Predisposing conditions for infective arthritis
Complement MAC deficiency, immunodeficiency, debilitating illness, joint trauma, chronic arthritis, IVDU
43
Predisposing conditions for secondary CPPD
Previous joint damage, hyperparathyroidism, haemochromatosis, hypomagnesaemia, hypothyroidism, ochronosis and diabetes
44
Gene associated with tenosynovial GCT
Reciprocal translocation t(1;2)(p13;q37) resulting in fusion of type VI collagen promoter and M-CSF Results in proliferation of macrophages (similar to giant cell tumour of bone)
45
Syndromes related to sarcoma
NF1, Gardner, Li-Fraumeni, Osler-Weber Rendu (aka hereditary haemorrhagic telangiectasia)
46
Most common joint disease
osteoarthritis
47
Name 5 predisposing factors that can increase risk of OA in younger people
Previous joint injury Obesity Diabetes Haemochromatosis Joint deformity
48
Most common adult sarcoma
Liposarcoma
49
Three subtypes of liposarcoma
Well differentiated (12q13-15 mutation, indolent) Myxoid (t(12;26) translocation, intermediate grade). Most common type in <20 year olds Pleomorphic (aggressive, frequently metastasise)
50
Genes for synovial sarcoma
Translocation (x;18) (p11;q11)
51
Age group of; A) Synovial sarcoma B) Undifferentiated pleomorphic sarcoma (and location)
A) 20-40s B) Middle aged or older adults, deep soft tissue of extremities especially thigh
52
Primary gout: most often caused by decreased uric acid excretion, or increased production?
Decreased excretion, unknown mechanism
53
Two congenital syndromes associated with gout?
Lesch-Nyhan syndrome, HGPRT enzyme deficiency
54
Most common bacterial cause of suppurative arthritis in children <2?
Haemophilus influenzae
55
Most common bacterial cause of suppurative arthritis in older children and adults?
Staph aureus
56
Most common bacterial cause of suppurative arthritis in adolescence and young adults?
Gonococcus
57
Most common soft tissue tumour in adults?
Lipoma
58
Mycobacterial osteomyelitis
More destructive and resistant than pyogenic OM 40% involve spine (Potts disease) Spread can be contiguous or non-contiguous to vertebral bodies under longitudinal ligaments Can get relative disc sparing due to reduced vascularity Gradual anterior collapse of vertebral body causing Gibbus deformity
59
Risk factors for osteomyelitis
Diabetes, immunosuppression, HIV/AIDS, sickle cell anaemia
60
Osteomyelitis locations by age 1) Neonate/infant 2) Child 3) Adult
1) metaphysis and epiphysis (transphyseal vessels) 2) metaphysis 3) epiphysis and subchondral bone
61
What are the different chronicities of osteomyelitis?
Acute <2 weeks Subacute 2 weeks to 3 months Chronic >3 months
62
4 parts of chronic osteomyelitis
Sequestrum (necrotic bone) Involucrum (newly formed bone shell) Cloaca (cortical and periosteal defect) Sinus tract (opening from bone to skin)
63
Complications of osteomyelitis
Fracture, secondary amyloidosis, endocarditis, sepsis, SCC of sinus tract, slipped epiphysis, growth deformities
64
Spondylodiscitis original location in spinal column 1) children 2) adults
1) disc to adjacent bone 2) end plates to adjacent disc
65
Types of necrotising fasciitis
Type 1: polymicrobial (most common) Type 2: monomicrobial (group A strep or staphylococcus)
66
Risk factors for necrotising fasciitis
Diabetes, immunosuppression, vascular insufficiency
67
Mycobacterial infectious arthritis features
Chronic progressive monoarticular Synovium may grow as a pannus over the articular cartilage and erode bone along joint margins Can result in fibrous ankylosis, obliteration of joint space Hips > knees > ankle
68
Non-bacterial pathogens in infectious arthritis
Alphavirus, EBV, Hep B, Hep C, parvovirus B19, rubella, Lyme disease
69
Associations with ankylosing spondylitis
HLA-B27, anterior uveitis, psoriasis, IBD, aortitis, aortic root dilatation, apical predominant ILD, dural ectasia, osteopenia
70
Rheumatoid arthritis pathophysiology / morphology
Synovial cell hyperplasia and proliferation Dense inflammatory infiltrates forming lymphoid follicles Angiogenesis Fibrinopurulent exudate on synovial and joint surfaces Osteoclastic activity in subchondral bone, allowing inflamed synovium to penetrate ** The above produces a pannus which causes erosions, then it will bridge adjacent bones to form fibrous ankylosis, then bony ankylosis
71
Typical demographics for rheumatoid arthritis
Women, 20-40s
72
Two patterns of charcot joint
Atrophic - most common, non-weight bearing joints of upper limb, absent sclerosis/osteophytes Hypertrophic - sensory nerves affected, slow progression, peri-articular debris, sclerosis and osteophytes
73
Causes of charcot joint
Diabetes, syringomyelia, neurosyphilis, alcohol, traumatic spinal cord injury, amyloidosis, spina bifida, tumour compressing spinal or peripheral nerve
74
Risk factors for osteoporosis
Females, age, lower BMI, prior fragility fracture, smoking, alcohol, steroids
75
Typical demographics for Pagets disease
Males, over 80
76
3 phases of Pagets disease
1. Early destructive phase (lytic) 2. Intermediate phase (mixed) 3. Late phase (inactive sclerotic)
77
Complications of Pagets disease
Osteosarcoma, fibrosarcoma, osteoarthritis, pathological fractures, hearing loss, high output cardiac failure
78
Causes of osteomalacia
Vitamin D deficiency (diet, sunlight, gastric surgery, small bowel disease, pancreatic insufficiency) Vitamin D metabolism issue (cirrhosis, CKD, cytochrome P450 inducer) Phosphate deficiency (diet, renal phosphate wasting) Bisphosphonates
79
Risk factors for rickets
Prematurity, unbalanced infant nutrition, maternal vitamin D deficiency, lack of sun exposure
79
Types of rickets
Calcipenic (calcium related): vitamin D or calcium deficiency, vitamin D metabolism issue, hereditary vitamin D resistance Phosphopenic (phosphate related): Fanconi syndrome, hereditary, tumour induced
80
Risk factors for gout
Hyperuricaemia, age, male, alcohol, obesity, drugs, genetic predisposition
81
Most common crystalline arthropathy
CPPD
82
Typical age for simple bone cysts
10-20
83
Typical age for enchondroma
20-50
84
Important prognostic factor for chondrosarcoma
Histological grade
85
Associations with chondrosarcoma
Enchondroma, ollier syndrome, maffucci syndrome, osteochondroma and multiple hereditary exostosis
86
Typical age for non-ossifying fibroma or fibrous cortical defect
<20 years old
87
Most common location of an intraosseous lipoma
Calcaneus
88
Syndrome associated with non-ossifying fibroma
NF1
89
Typical age for liposarcoma
60-70
90
Syndromes associated with osteoma
Gardner, tuberous sclerosis
91
Causes of symptoms related to osteochondroma
Overlying bursitis, vascular complications (pseudoaneurysm, thrombosis), fracture through stalk, nerve impingement, malignant transformation
92
1. Syndromes associated with osteosarcoma 2. Other genetic mutations associated with osteosarcoma
Hereditary retinoblastoma (RB), Li-Fraumeni syndrome (TP53) RB + TP53 in sporadic, CDKN2A, MDM2, CDK4
93
Causes of secondary osteosarcoma
Paget disease, bone infarct, prior radiation
94
Types of osteosarcoma
Conventional (80%) Parosteal (15%) Periosteal Telangiectatic
95
Types of synovial sarcoma
Classic or biphasic (spindle + epithelial cell types) Monophasic (spindle cell type)
96
Which sarcoma metastasizes to regional lymph nodes?
Synovial sarcoma
97
Most common soft tissue tumour in childhood
Rhabdomyosarcoma
98
Types of rhabdomyosarcoma
Embryonal Alveolar Pleomorphic Spindle cell/sclerosing
99
Associations with rhabdomyosarcoma
NF1, Beckwith-Wiedemann, Li-Fraumeni
100
Typical demographics for Ewings sarcoma
<20 years old, Caucasian, males
101
Typical age for tenosynovial GCT
20-40s
102
Typical location of chondromyxoid fibroma
Metaphyseal region of long bones Often upper 1/3 of tibia
103
Typical age and location of chondroblastoma
Child, epiphysis of long bones
104
Most common primary sacral tumour
Chordoma
105
Typical demographics for fibromatosis
Adult males
106
Types of fibrosarcoma
Primary Secondary - radiation, bone infarct, Pagets, chronic osteomyelitis
107
Common locations for solitary fibrous tumour
Pleural Extra-pleural locations: extremities, retroperitoneum, orbit, head and neck
108
Common causes of secondary osteoporosis
Endocrine disease (diabetes, Cushing syndrome, hyperthyroidism, hyperparathyroidism) Chronic illness (COPD, chronic liver disease, multiple sclerosis, coeliac disease) Inflammation Medications (steroids) Nutritional disturbance
109
Pathogenesis of renal osteodystrophy
1: Tubular dysfunction: dissolves hydroxyapetite, results in demineralisation and osteomalacia 2. Secondary hyper-PTH: reduced serum calcium, results in demineralisation of bone 3. Decreased biosynthetic function: reduced vitamin D activation contributes to secondary PTH and reduces osteoblast proliferation
110
Typical locations for CPPD
Knee > wrists > shoulders > ankles
111
Causes of primary CPPD
Hereditary Idiopathic
112
Crystals in CPPD
Rhomboid/rod shaped Positive birefringent
113
Crystals in gout
Needle shaped Negative birefringent
114
What viral infection is thought to be involved in the pathogenesis of Paget's disease of bone?
Paramyxovirus
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