Chapter 25- Bones, Joints Flashcards
(224 cards)
1
Q
What is the meaning of osteoporosis
A
Porous, or thinned out bone
2
Q
What is the meaning of osteomalacia
A
Weakened, soft bone
3
Q
What is the meaning of Osteopetrosis
A
Peter=rock, stone bone
4
Q
What is the meaning of osteogenesis imperfecta
A
Imperfect origin of bone
5
Q
Osteitis deformans
A
Deforming bone-itis
6
Q
What is the meaning of osteodystrophy
A
Difficult/bad growing bone
7
Q
The hardness of the bone is made up of which material
A
Hydroxyapatite
8
Q
What is contained in bone hydroxyapatite
A
99% of body calcium
85% if phosphorous
9
Q
What is the source and function of osteopontin
A
Osteoblasts and functions in calcium homeostasis
10
Q
What are the characteristics of woven bone and which individuals are commonly seen to have it
A
- Produced rapidly during fetal development, abnormal in adults
- Seen in fracture repair
- Arrangement of collagen, with less structural integrity
11
Q
What is the structure of woven versus lamellar bone
A
Woven bone has more collagen and disorganized
Lamellar bone: parallel collagen and stronger
12
Q
Which cells in the bone regulate the calcium and phosphate levels
A
Osteocytes
13
Q
What is the method of bone development in long bones
A
Endochondral ossification
*New bone at the bottom of the growth plate giving longitudinal growth
14
Q
What is the method of bone growth in flat bones
A
Intramembranous ossification
*new bone placed on preexisting surface, aka appositional growth
15
Q
When is peak bone mass achieved
A
Early adulthood after cessation of skeletal growth
16
Q
Rank and RANKL result in which process with regards to bone
A
Breakdown
17
Q
OPG results in which process with regards to bone
A
Buildup
18
Q
What is is the pathway/receptor activation involved with RANK
A
NF kappaB
19
Q
What is the mechanism that OPG works
A
Binds to the RANKL and prevents it from binding to the RANK
20
Q
What is the process and result of WNT proteins with regards to bones
A
WNT proteins bind to LRP5/6 on osteoblasts and activate Betacatenin and production of OPG
*Results in bone building
21
Q
What is the process and result of the activation of sclerostin
A
Inhibits the WNT/Beta catenin pathway, Inhibition in the production of OPG
*Results in bone breakdown
22
Q
What are the compounds that commonly cause the building of bone
A
Testosterone
Estrogen
Vitamin D
23
Q
What are the common compounds that cause bone breakdown
A
PTH
IL-1
Glucocorticoids
24
Q
What is the role of M-CSF
A
On osteoclasts and stimulate tyrosine kinase cascade that causes the generation of osteoclasts
25
What is dystosis of bone
Migration and condensation of mesenchyme into cartilage analage
26
What is the dysplasia of the bone
GLobal disorganization of bone and cartilage
27
What are the genes that can cause dystosis
Homeobox genes
28
What are the common conditions that are classified under dystosis
Aplasia (missing bone)
Supernumerary (extra bone)
Syndatcyly or craniosynostosis (abnormal fusion of bone)
29
What is the gene associated with:
| -Short terminal phalanges of thumb and big toe
HOXD13
30
What is the gene associated with:
- Abnormal clavicle
- Wormian bones (extra cranial sutures)
- supernumerary teeth
RUNX2
31
What is the gene associated with:
| Achondroplasia, aka causing drawfism
FGFR3 gain of function
32
What are the clinal features of drawfism
Normal trunk length
| No change in the longevity, intelligence, or reproductive status
33
What is the gene associated with:
| Thanatrophic dysplasia
Most lethal form of drawfism
FGF3
34
What are the clinical features of thanatophoric dysplasia
- Small chest cavity (insufficient respiration)
| - microcephalic
35
What is the gene associated with:
| Abnormal bone density
- LPR5 receptor (osteoporosis or osteopetrosis)
| - Mutations in RANKL (decreased or missing osteoclasts)
36
What is the structure affected by osteogenesis imperfecta
Type 1 collagen (alpha 1 and 2 chains)
37
What is the state and type of collagen effect in type 1 osteogenesis imperfecta
Decreased amount of type 1 collagen, but the structure is normal
38
When do most fractures in type 1 osteogenesis imperfecta occur
Before puberty, with the decreased frequency as the age increases
39
What is the lifespan with type 1 osteogenesis imperfecta
Normal life span with normal or near normal stature
40
What are the clinical features of osteogenesis imperfecta type 1
* *Blue/purple/grey tint to sclera
- Triangular face
- brittle teeth
- Hearing loss (in the 20s/30s)
41
What is the state of the bone deformities in type 1 osteogenesis imperfecta
Normal bone with minimal to absent deformities
42
What is the lifespan in type 2 osteogenesis imperfecta
Lethal
43
What are the clinical features of type 2 osteogenesis Imperfecta
- Lethal due to respiratory issues arising from the small thoracic cavity
- Numerous fractures and severe bone deformities
- Small stature with small lungs
44
What is the state of bone deformity in type 3 osteogenesis imperfecta
Bone deformity, usually severe
45
What is the state and type of cartilage in type 3 osteogenesis imperfecta
Collagen type 1 in improperly formed
46
What are the clinical features of type 3 osteogenesis imperfecta
* *Fractures present at birth, usually revealing healed fractures
- Blue sclera
47
What is the status and type of collagen in type 4 osteogenesis imperfecta
Collagen type 1 is improperly formed
48
What are the clinical features of osteogenesis imperfecta type 4
- Inbetween type 1 and 3
- White or near white sclera
- shorter than normal stature
- Fractures before puberty
49
What is the description of osteopetrosis
Aka Marble bone disease or Albee’s-Schoenberg disease
50
What is the gene and its product mutation in osteopetrosis
CLCN7, which encodes the proton pump carbonic anhydrase 2 on osteoclasts and renal tubular cells
*carbonic anhydrase required for proton generation from CO2 and water
51
What is the result of carbonic anhydrase deficiency in osteopetrosis
Inability to acidity the osteoclast reabsorption pit to solubilize hydroxyapitie, results in lack or resorption
52
What are the physical findings in osteopetrosis
Lack a medullary cavity, with bulbous ends of long bones (which look like Erlenmeyer flasks)
-Neuronal foramina are small, which can compress the nerves
53
What is the inheritance fo the severe infantile type of osteopetrosis
Autosomal recessive
54
What is the inheritance form of the mild type of osteopetrosis
Autosomal dominant
55
What are the clinical findings in those patients with the severe infantile form of osteopetrosis
- Cranial nerve defects (optic atrophy, deafness, facial paralysis)
- Fractures, anemia, hydrocephaly
56
What are the clinical findings of the mild from of osteopetrosis
Repeated fractures
| -Mild cranial nerve defects and anemia
57
What is the cause of mucopolysaccharidosis
Lysosomal storage disease in which there is a deficiency in the enzyme that degrades dermatan sulfate, heparan sulfate and heratan sulfate
58
What is the enzyme that is commonly affected in mucopolysaccharidoses
Acid hydrolase enzymes
59
What is the result of mucopolysaccaridoses
Mucopolysaccharides accumulate in the chondrocytes and in the extracellular space, which results in the death of the cells and defects in the articular cartilage
60
What are the physical features of a patient with mucopolysaccaridoses
Short stature, chest wall abnormalities, and malformed bones
61
What are the three only causes of primary osteoporosis
1) Idiopathic
2) Postmenopausal
3) Senile
62
What is the definition of osteopenia
Decreased bone mass that is 1-2.5 SD below the mean
63
What is the definition of osteoporosis
Bone mass reduction that is at least 2.5 SD below the mean for peak bone mass
64
How does the diet of a younger female affect her chances of osteoperosis
Insufficiency in calcium uptake in the teenage years cause restriction of the peak bone mass, which sets them up for osteoporosis later in life
65
What is the mechanism in which menopause can cause osteoporosis
Estrogen deficiency causes the increased resorption and formation of bone, but there is a higher rate of resorption, leading to the increased turnover of bone
*Deceased amount of estrogen leads to the increased number of RANKL and decreased OPG
66
What are the physical bone findings in the case of osteoporosis due to menopause
Increased osteoclast activity resulting in the thinning of the trabeculae, resulting in microfractures and even the vertebral collapse
67
What are the physical findings in the case of osteoporosis caused by senile and old age
Cortex of the bone is thinned by subperiosteal and endosteal resorption
*Haversian system is widened
68
What is the test used to look at the bone density
DEXA scan (wont show up until there is at least 30% of bone loss)
69
What is the general process of Paget’s disease
Aka osteitis deformans
Increased but disordered and structurally unsound bone mass
70
What is monostatic Paget’s disease of the bone
Involves a single bone
71
What is the cause of the majority if the cases of Paget’s disease of the bone
40-50% are familial
72
In those sporadic cases of Paget’s disease of the bone, what is the mutation and what is its function
SQSTM1 gene, which increased the NFKB and activated osteoclasts
73
What is the radio graphing finding in the cause of Paget’s disease of the bone
“Cotton wool” with increased uptake on a bone scan
74
What is the average age that someone with Paget’s disease of the bone will be seen
70 years old
75
What is the morphology of the bone in Paget’s disease under histology
- Mosiac like pattern that fits together like a jigsaw puzzle
- Prominent cement lines
76
What are the features of Paget’s disease of the bone in the cause of the lytic phase
Large osteoclasts withe 100 nuclei
77
What are the features of Paget’s disease of the bone in the cause of the mixed phase
Osteoclasts persist, but there are lots of blasts as well
78
What are the features of Paget’s disease of the bone in the cause of the final phase
Burned out phase, with the osteoslcerotic phase
79
What are the clinical features of Paget disease
- Chalk stick type fractures of the long bones
- Hypervasculatiry of the paget bone, leasing to increased warming of the overlying skin and high output heart failure
- Bowing of limbs
80
What is the seriously complication of Paget’s disease of the bone
High output heart failure due to increased blood flow due to the hypervascularity of the Paget bone
81
What are the lab values that will be seen in Paget disease of the bone
Increased alk phosphatase
Normal calcium and phosphorous
82
What is the cause of Rickets, and what is the mechanism
Vitamin D deficiency in children
-Decreased Deposition of bone in the growth plate
83
What is the cause of osteomalacia and what is the mechanism
Vitamin D deficiency in adults
-None formed during remodeling is undermineralized, leading to increased risk of fractures
84
What are the clinical features of rickets
- Frontal bossing
- squared off head
* *Rachitic rosary of ribs
- Bowed legs
85
Which bone condition is present in the case of “railroad tracks” on histology
Dissecting osteitis due to hyperparathyroidism
86
What is the mechanism of disecting osteitis
Hyperparathyroidism causes the osteoclasts to tunnel into the bone centrally along the length of the trabeculae
87
What are the bone abnormalities than can be caused by hyperparathyroidism
1) Osteoporosis
2) Dissecting osteoitis
3) Brown tumor
4) osteitis fibrosis cystica
88
What is the cause of features of a brown bone tumor
Severe form is aka Von Reckilinghausen disease of bone
Hyperparathyroidism leading to microfractures as a result of bone loss. The fractures causes the influx of macrophages and ingrowth fibrosis that creates a mass of reactive tissue
89
What is the mechanism that renal failure causes changes in pH and bone loss
Tubular dysfunction leads to renal tubular acidosis, which decreases the pH and dissolves the hydroxyapatite, leading to demineralization of the bone
90
What type of fracture is:
| -Overlying skin is intact
Simple
91
What type of fracture is:
| -bone communicates with the surface of the skin
Compound
92
What type of fracture is:
| -bone is fragmented
Comminuted
93
What type of fracture is:
| -Ends of the bone at the fracture site are not aligned
Displaced
94
What type of fracture is:
-Slowly developing fracture that follows a period of increased physical activity in which the bone is subjected to repetitive loads
Stress
95
What type of fracture is:
| -extending only partially through the bone, which is more common in infants when the bone is soft
Greenstick
96
What type of fracture is:
| -pathologic
Involved bone is weaker due to an underlying disease process, such as a tumor
97
What is the state of the fracture at the end of the first week
Soft tissue callus or procallus
*Predominately uncalcified
98
What is the state of a fracture after 2 weeks
soft tissue callus is transformed into a bony callus, reaching maximum girth after end to 2nd or third week
99
What is the cause of osteonecrosis
Infarction of the bone and marrow
100
What are the most common causes of osteonecrosis
Fractures or corticosteroids
*Also bisphosphanates in children (especially the jawbone)
101
What form of osteonecrosis is described as infarcts that cause pain and is initially only associated with activity, then becomes constant
Subchondral infarction
102
What is a complication seen with subchondral infarcts
They collapse and can cause secondary osteoarthritis
103
Which form of osteonecrosis is associated with small and clinically silent infarcts, but present in the case of patients with sickle cell disease, the bends, or Gaucher’s disease
Medullary osteonecrosis
104
In the case of osteonecrosis, which portion of the bone is most affected and why
Medullary infarcts are more common with the cortex often not being
*Zcortex has collateral flow to it
105
Subchondral infarcts will have what in the bone
triangular or wedge shaped infarcts
106
In the case of osteonecrosis of the bone, what does the dead trabeculae that remain serve as
Scaffolding for deposition of new bone, aka creeping substitution
*Most of the time, the pace is too slow to be effective, so there is collapse and sloughing go the articular cartilage
107
What is sequesteum
Dead bone following a subperiosteal abcess, commonly becoming a draining sinus and release fragments
108
What is a involucrum
Newly deposited bone serves as a shell of living tissue around the segment of dead bone
109
What is a Brodie abscess
Small interosseous abcess frequently involving the cortex, which is then walled off by reactive bone
110
Which bone tends to be affected by sclerosing osteomyolytis of Garre and what is it
Jaw
-associated with extensive new bone formation that obscures much of the underlying osseous structure
111
Which condition will cause saber shin
Congenital syphilis,
*Bone lesion that appears about 5th month of gestation and is a reactive periosteum bone deposition on medial and anterior surface of tibia
112
Which condition is present if there is the formation of saddle nose
Syphilis
113
What is the most common benign bone tumor
Osteochondroma aka exostosis
114
What are the characteristics of osteochonroma
85% are solitary, seen in early adulthood
| -Men 3 times more likely
115
What is the gene commonly mutated with osteochondromas
EXT1 and EXT2
116
What is the location that osteochondromas tend to occur
Metaphysic near a growth plate of tubular bone
117
What is the the associated risk with familiar exostosis
Aka osteochondroma
AD and progresses to chondrosarcoma
118
What is the location that chondromas aka enchondromas tend to occur
Hands and feet
119
What causes the formation of chondromas/enchondromas
Benign hyaline cartilage that forms a solitary meaphyseal lesion
120
What is the location of the enchondral
Medullary cavity
121
What is Ollier syndrome
Multiple enchondromas
122
What is mafucci syndrome
Multiple enchondromas with angiomas
123
What are patients with mafucci syndrome at an increased risk for
Chondrosarcomas and other malignancies
124
What is the gene mutation seen in chondromas or enchondromas
IDH1 and 2
125
What is the most common malignancy of the bone
Osteosarcoma
126
What is the location and age that patients get chondrosarcomas
Males in their 40s or older
Axial skeleton
127
What is the location that chondrosarcomas tend to spread
Lungs via hematogenous routes
128
What does the chondrosarcomas look like on radiograph
Calcified matri appears as foci of flocculent densities
129
What is the main way that chondrosarcomas arise
De novo (85%),
From preexisting osteochonadromas or enchondromas fro the rest
130
What genetic abnormalities may be seen that lead to chondrosarcomas
- EXT gene in multiple osteochondroma syndrome
| - IDH1/2 in chondromatosis and sporadic chondrosarcomas
131
What is garner syndrome and what is the gene mutation
APC
- Multiple GI adenomas
- Osteomas
- thyroid and Desmond tumors, skin cysts
132
What is the patient complaint that seems to arise with osteoid osteoma
Painful, usually worse at night, but is relieved by NSAID and aspirin use
133
Osteoid osteoma is caused by the production of what
Prostaglandins E2 by osteoblasts
134
What is the age at which osteoid osteomas arise
Young men, usually in their teens and early 20s
135
What is the location that osteoid osteomas tend to occur
Appendicular skeleton, usually on the femur or tibia
136
What is the difference between an osteoid osteoma and osteoblastoma with regards to size
Osteoma <2 cm
| Osteoblastoma >2cm
137
What is the radiographic findings in the cause of osteoid osteoma
Nidus aka central mineralization surrounded by reactive bone
138
Which condition will have:
| -Haphazardly interconnecting trabeculae of woven bone that are rimmed by prominent osteoblasts
Osteoid osteoma
139
What are the features of osteoblastoma that are different than osteoid osteoma
- Larger (>2 cm)
- Involves the posterior spine
- No bony reaction
- DOES NOT RESPOND TO ASPIRIN
140
What is the most common location for an osteosarcoma
The knee (60%)
141
What is the presentation of an osteosarcoma
Painful enlarging mass
142
What is the age group osteosarcoma
Bimodal, with 75% younger than 20 years old, usually around the knee
Second group is those with Paget’s or prior radiation (secondary osteosarcoma)
143
Which genetic factors will increase the risk for an osteosarcoma
- Rb gene (70% of cases)
| - TP53, Li-Fraumani syndrome
144
What is the radiographic finding in the case of osteosarcoma
- Mixed lytic and blastic mass
| - Codman triangle, which is elevation of the periosteum
145
What is the chances of metastasis in an osteosarcoma and what are the common locations
Hematogenous LH spread, with 90% to the lungs, bones or brain
146
What is the age and patient population seen to get Ewing sarcomas
<20 year olds, with redirection for White patients
147
What are the background for the Ewing sarcoma
Small blue round cell tumor
148
What is the genetic component involved in Ewing sarcoma with a neural differentiation
PNET (primitive neuroectodermal tumor)
149
What is the clinical presentation of Ewing sarcoma
Painful enlarging mass, frequently tender, warm, swollen
-Usually mimics an infection with a fever and increased sedimentation rate
150
What is the periosteal reaction seen in Ewing sarcoma
Reactive bone in the onion skin type fashion on X-RAY
151
Which bones are commonly affected by Ewing sarcoma
Long bones, especially the femur
*Arises in the medullary cavity and Incase’s the cortex
152
What is the gene and translocation seen in Ewing sarcoma
t(11;22)(q24:q12) leading to a EWS-FL11 fusion gene (EWS gene)
153
What is the important prognostic findings in the case of Ewing sarcoma
The amount of chemotherapy-induced necrosis
154
What is the gene and histological finding in the cause of Ewing sarcoma with a neural component
PNET
-Homer-Wright rosettes with a central fibrillation core
155
What is the prognosis of fibrous dysplasia
Benign proliferation of fibrous tissue and bone that does not mature
156
Which form of fibrous dysplasia is more common
Monostatic (70%) usually asymptomatic
**Polustatic tends to be crippling
157
Which bone condition will arise with the appearance of ground glass
Fibrous dysplasia
158
What is McCune-Albright disease
- Unilateral fibrous dysplasia bone lesions
- pigmented skin lesions (Cafe au lait) on the side of the deformities
- Precocious puberty in females
159
What is Mazabraud syndrome
- Fibrous dysplasia (usually polyostotic)
- multiple skeletal deformities in childhood
- Soft tissue myxomas (intramuscular)
160
What condition commonly has the histological finding of curvilinear trabeculae, usually described as “Chinese characters”
Fibrous dysplasia
161
What is the cell of a giant cell tumor of the bone
Aka osteoclastoma
-Multinucleated osteoclast type giant cell
162
Of those malignancies in the bone, what is the common primary location
Prostate, breast, kidney, lung
163
What are the metastatic tumors that spread to bone in children
- Neuroblastoma
- Wilms
- Osteosarcoma
- Ewing
- Rhabdomyosarcoma
164
What are the characteristics of the lytic bone diseases and where are they commonly coming from
Bone destroying tumor
-Kidney, lung, GI tract, melanoma
165
Which form of metastatic tumors tend to be blastic
Aka bone forming
-Prostatic adenocarcinoma
166
What are the characteristics of the synarthrosis
Solid joints, which provide structural integrity and only allow minimal movement
-lots of type 2 collagen
-Lack joint space
**Such as teeth
167
What are the common locations affected by osteoarthritis aka DJD
- Hands and knees in women
| - Hips in men
168
What are predisposing conditions that can cause osteoarthritis/DJD
- Joint deformities
- Trauma
- Obesity
169
Which conditions can cause secondary osteoarthritis
-DM
-Thyroid
-Acromegaly
Charcot
170
What are the clinal patient complaints in the case of osteoarthritis/DJD
- Evening stiffness
- crepitus
- gets worse with use
171
What is the name of the nodes in the proximal IP joint
Bouchard’s nodes
172
What is the name of the nodes in the distal IP joint
Henerden nodes
173
What is the mechanism of disease for osteoarthritis
- Increased in the water content of the Matrix
- decreased concentration of proteoglycans
*Leads to cracks in the bone matrix
174
What is eburnation
Subchondral bone exposure that rubs smooth and leads to bone on bone pain
175
What is the result of osteoarthritis
- Eburnation (bone on bone pain)
- microfractures and cysts
- Osteophytes develop
- Fibrillation on histology
*can lead to nerve root compression and radicular pain
176
What is the common appearance in the case of bone in a patient with osteoarthritis
There is the formation of a cyst and some residual cartilage, then there is none, forming the eburnation
177
What are the characteristic features of the joint in rheumatoid arthritis
- Inflammation
- Pannus
- Eroding cartilage
- fibrous and bony ankylosis
178
What are the characteristic features of the joint in osteoarthritis
- Subchondral cysts
- No ankylosis
- Subchondral sclerosis
- Osteophytes
- Thinned and Fibrillated cartilage
179
What is the method of rheumatoid arthritis (RA)
Autoimmune, nonsuppurative proliferation and inflammatory synovitis
-Destruction of the articular cartilage
180
What is ankylosis
Stiffness of a joint due to abnormal adhesion and rigidity of the bones of the joint, which may be the result of injury or disease
181
Which joints tend to be affected in RA
Symmetrical distribution with small joints affected
182
What is the compound that tends to be elevated in the mechanism of rheumatoid arthritis
TNF
183
In the joints during rheumatoid arthritis, what are the factors that tend to be circulating and support a diagnosis
- Antigen antibody complexes that contain citrullinated peptides (CCP’s)
- Rheumatoid factor (RF)
184
What is the condition of boutonniere and what condition is it seen with
Rheumatoid arthritis (RA)
- Deformity of finger
- hyperextension of DIP
- flexion of PIP
185
What is the condition of Swan-neck and what condition is it seen with
Rheumatoid arthritis
- Hyperextension of PIP
- Flexion of DIP
186
What is the condition seen with RA and ulnar deviation
- Decreased joint space
- Periarticular bony erosion
-Ulnar deviation of the fingers with radial deviation of the wrist
187
What is pannus with regards to RA
Edematous, Thickened, hyperplastic synovium
188
What are rheumatoid nodules
Extension surfaces at pressure points get these nodules that can Mimic systemic autoimmune disorders such as SLE or scleroderma
189
What features will wheumatoid nodules have histologically
Central area of necrosis with palisading histiocytes
190
What is the HLA match that is associated with ankylosing spondylitis
HLA-B27, negative for rheumatoid factor (RF)
191
What is the mechanism of disease for Seronegative spondyloarthropathies
Autoimmune, T cell mediated, with no specific Abs present
192
What is the triad for reactive arthritis
1) Arthritis
2) Urethritis or cervicitis
3) Conjunctivitis
193
What is the HLA present in psoriatic arthritis
HLA-B27
194
What is the radiographic findings i the case of psoriatic arthritis
“Pencil in a cup”
| -Pitting in the nails
195
What is the common cause of suppurative arthritis in children younger than 2 years old
H. Influenza
196
What is the cause of suppurative arthritis in the cause of older kids and adults
Staph aureus, gonococcus infection
197
Gout is caused by which compound
Monosodium urate (MSU) within and around the joints
198
What is the plasma level of crystals that will cause gout
> 6.8mg/dL
199
Which joints tend to be favored in the case of gout
Lower temperatures where the crystals can precipitate
200
What is the cytokine that is present in gout
IL-1Beta
201
What is gouty tophus
Pathomnumonic for gout
202
What is the joint hit with gout first
The first metatarsophalangeal joint
203
What is the compound present in the cause of pseudogout
Calcium phyrophosphate crystals
204
What are the characteristics of the crystals present in pseudogout
- chalky, white, friable deposits
| * Individual crystals are rhomboid and are positively infringe this
205
What is a simple test that can be done to look if it is a ganglion cyst
Translucent nodule when shined with a light
*commonly at the wrist as a firm pea sized cyst that lacks cell lining
206
What is the cause of ganglionic cysts
Cystic of my oil degeneration, with cyst lacking cell lining
207
What is the location and cause of a Baker cyst
Popliteal cyst, usually a cause of RA
208
What are the common locations for soft tissue tumors
Arises in extremities, especially the thigh
209
What is the common translocation in the cause of liposarcomas, the gene product and the result of the mutation
T(12;16)(q13;p11)
FUS-DDIT3
Arrests Adipocytes differentiation
210
What is the common translocation in the cause ofsynovial sarcoma, the gene product and the result of the mutation
T(x;18)(p11;q11)
SS!*
Interrupts cell cycle control
211
What is the common translocation in the cause of rhabdomyosarcoma, the gene product and the result of the mutation
T(2;13)(q35;q14)
FOX01
Disrupts skeletal muscle differentiation
212
What is the most common soft tissue tumor of adults
Lipomas
213
What are the histological findings in the cause of lipoma
Encapsulated mass of normal appearing adipose tissue
214
What is the method that the liposarcomas are able to form
They have a potent inhibitor of p53
215
What is the most common type of liposarcoma
Myxoid variant
216
What is Gardner syndrome and what is the gene that is commonly mutated
FAP, with a germline in the APC gene
This syndrome is at an increased risk for developing fibrous tumors
217
Which condition with have herringbone fascicles
Fibrosarcoma
218
What are the clinical features of a fibrosarcoma
Dee seated, slow growing mass in the thigh or trunk of young or middle aged adults
219
What are the translocations seen in rhabdomyosarcoma
Pax3 (2;13)
| Pax7 (1;13)
220
Which patient population is most commonly affected by rhabdomyosarcoma
Kids
221
What is the name of the tumor if there is embryonal tissue in the rhabdomyosarcoma
Rhabdomyoblasts
*Has cross striations
222
Which tumor has sarcoma botryoides and which layer are they
Cambium layer, seen in rhabdomyoblasts
223
What are the conditions that are seen to have leiomyoma
Hereditary leiomyomatosis and renal cell carcinoma syndrome (Autosomal dominant)
224
Leiomyoma are of which cell type origin
Smooth muscle origin
