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Bone, Joints, and Soft tisue tumors > Robbins > Flashcards

Robbins Flashcards

1
Q

extracellular component of bone, the matrix, is composed of osteoid (__%) and minerals (__%)

A

35%, 65%

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2
Q

Mineral in bone is primarily

A

calcium hydroxyapatite [Ca10(PO4)6(OH)2]

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3
Q

hydroxyapatite in bone serves as a repository for (2)

A

99% of the calcium and 85% of the phosphorus in the body

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4
Q

Osteoid is what type of collagen?

A

Type 1

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5
Q

This is produced by osteoblasts and is used as a specific marker of osteoblast activity

A

Osteopontin (osteocalcin)

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6
Q

This type of bone is always abnormal in adults

A

Woven bone

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7
Q

most bones form via

A

endochondral ossification

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8
Q

flat bones form via

A

intramembranous ossification

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9
Q

The balance between bone formation and resorption is modulated by ___ and ___ signaling

A

RANK, WNT

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10
Q

When stimulated by RANKL, RANK signaling activates NF-κB, which is essential for the generation and survival of

A

osteoclasts

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11
Q

a secreted decoy receptor made by osteoblasts and several other types of cells that binds RANKL and thus prevents its interaction with RANK

A

osteoprotegerin (OPG)

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12
Q

developmental disorder characterized by shortening of the terminal phalanges of the thumb and big toe, respectively

A

Brachydactyly types D and E

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13
Q

Brachydactyly types D and E are caused by mutations in

A

homeobox HOXD13 gene

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14
Q

developmental disorder characterized by patent fontanelles, delayed closure of cranial sutures, Wormian bones (extra bones that occur within a cranial suture), delayed eruption of secondary teeth, primitive clavicles, and short stature.

A

cleidocranial dysplasia

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15
Q

mutation in cleidocranial dysplasia

A

Loss-of-function mutations in RUNX2

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16
Q

most common skeletal dysplasia and a major cause of dwarfism

A

achondroplasia

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17
Q

achondroplasia is an autosomal dominant disorder caused by gain-of-function mutations in

A

FGF receptor 3 (FGFR3)

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18
Q

Normal FGF-mediated FGFR3 activation function and how does mutation in this cause dwrafism

A

inhibits endochondral growth, this effect is exaggerated by FGFR3 gain-of-function mutations causing shorter proximal extremities

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19
Q

most common lethal form of dwarfism

A

Thanatophoric dysplasia

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20
Q

mutation in thanatophoric dysplasia

A

FGFR3 gain of function mutation distinct from what causes achondroplasia

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21
Q

T/F FGFR3 gain-of-function mutations in thanatophoric dysplasia cause less FGFR3 signaling thus show a less severe phenotype

A

False, more severe phenotype, which cause underdeveloped thoracic cavity, leads to respiratory insufficiency, and these individuals frequently die at birth or soon after.

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22
Q

most common inherited disorder of connective tissue

A

Osteogenesis imperfecta (OI)

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23
Q

Osteogenesis imperfecta (OI) is a phenotypically heterogenous disorder caused by deficiencies in

A

type I collagen synthesis

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24
Q

The fundamental abnormality in OI is

A

too little bone

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25
Q

OI variant, which is uniformly fatal in utero or during the perinatal period, is characterized by extraordinary bone fragility and multiple intrauterine fractures

A

Type 2

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26
Q

comprises a group of rare genetic diseases characterized by reduced bone resorption due to deficient osteoclast development or function, which leads to diffuse, symmetric skeletal sclerosis

A

osteopetrosis

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27
Q

Most of the mutations underlying osteopetrosis interfere with

A

acidification of the osteoclast resorption pit

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28
Q

Albers-Schönberg disease, a mild autosomal dominant form of osteopetrosis, is caused by mutation of

A

CLCN7

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29
Q

mutation in autosomal recessive osteopetrosis accompanied by renal tubular acidosis

A

carbonic anhydrase (CA2)

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30
Q

developmental disorder that presents with lack of a medullary canal, and the ends of long bones are bulbous (Erlenmeyer flask deformity) and misshapen

A

osteopetrosis

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31
Q

lysosomal storage disease where mucopolysaccharides accumulate within chondrocytes and induce apoptosis and leads to structural defects in articular cartilage

A

mucopolysaccharidoses

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32
Q

Developmental abnormalities caused by defects in nuclear proteins and transcription factors (2)

A

Brachydactyly types D and E

cleidocranial dysplasia

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33
Q

Developmental abnormalities caused by defects in hormones and signal transduction proteins (2)

A

achondroplasia

thanatophoric dysplasia

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34
Q

Developmental bone abnormalities caused by defects in extracellular structural proteins (1)

A

Type 1 collagen diseases - osteogenesis imperfecta

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35
Q

Developmental bone abnormalities caused by defects in metabolic pathways (1)

A

osteopetrosis

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36
Q

Developmental bone abnormalities caused by defects in degradation of macromolecules (1)

A

mucopolysaccharidoses

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37
Q

_____ refers to decreased bone mass; _____ is defined as osteopenia that is severe enough to significantly increase the risk of fracture

A

osteopenia, osteoporosis

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38
Q

most common forms of osteoporosis (2)

A

senile and postmenopausal

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39
Q

This form of ostepososis includes a reduced proliferative and
biosynthetic capacity, and attenuated response to growth factors of osteoblasts, resulting in a diminished ability to make bone.

A

senile

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40
Q

form of osteoporosis that affects mainly bones or portions of bones that have increased surface area, such as the cancellous compartment of vertebral bodies

A

Postmenopausal osteoporosis

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41
Q

(2) manifestations of impaired mineralization of bone matrix

A

Osteomalacia and rickets

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42
Q

disorder in children, in whom it interferes with the deposition of bone in the growth plates

A

rickets

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43
Q

disease where bone formed during remodeling is undermineralized and predisposed to fractures

A

osteomalacia

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44
Q

parathyroid hormone (PTH) has a central role in calcium homeostasis through the following effects: (4)

A

Activation of osteoclasts, Increasing calcium resorption by the renal tubules, Increasing urinary phosphate excretion, and Increasing synthesis of active vitamin D, 1,25(OH)2-D, by
the kidneys, thereby enhancing intestinal calcium absorption

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45
Q

untreated primary hyperparathyroidism manifests with three interrelated skeletal abnormalities (3)

A

osteoporosis, brown tumors, and osteitis fibrosa cystica

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46
Q

describes the collective skeletal changes that occur in chronic renal disease, including those associated with dialysis

A

renal osteodystrophy

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47
Q

disorder marked by increased, but disordered and structurally unsound, bone mass.

A

Paget Disease (Osteitis Deformans)

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48
Q

three sequential phases of Paget Disease (Osteitis Deformans)

A

(1) osteolytic stage; (2) a mixed osteoclastic-osteoblastic stage; and (3) osteosclerotic stage

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49
Q

Approximately 50% of cases of familial Paget disease and 10% of sporadic cases are associated with mutations in the

A

SQSTM1 gene

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50
Q

histologic hallmark of paget disease

A

jigsaw puzzle–like appearance produced by prominent cement lines

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51
Q

The most dreaded complication of Paget disease is

A

sarcoma

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52
Q

defined as loss of bone integrity

A

fractures

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53
Q

marks the completion of the healing process of fractures

A

restoration of the medullary cavity

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54
Q

characterized by empty lacunae surrounded by necrotic adipocytes

A

dead bone

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55
Q

responsible for 80% to 90% of culture-positive pyogenic osteomyelitis

A

Staphylococcus aureus

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56
Q

characteristic saber shin is produced by reactive periosteal bone deposition on the medial and anterior surfaces of the tibia and is seen in this infection

A

congenital syphilis

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57
Q

benign bone- producing tumors with similar histologic features but different sizes, sites of origin, and symptoms

A

Osteoid Osteoma and Osteoblastoma

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58
Q

Osteoid osteoma size

A

<2 cm

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59
Q

osteoblastoma size

A

> 2cm

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60
Q

Osteoid osteoma or osteoblastoma

has a predilection for the appendicular skeleton

A

osteoid osteoma

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61
Q

Osteoid osteoma or osteoblastoma

has a predilection for the posterior spine

A

osteoblastoma

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62
Q

Osteoid osteoma or osteoblastoma

induces a thick rim of reactive cortical bone

A

osteoid osteoma

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63
Q

Osteoid osteoma or osteoblastoma

nocturnal pain not relieved by aspirin

A

osteoblastoma

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64
Q

Osteoid osteoma or osteoblastoma

treatment requires curettage

A

osteoblastoma

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65
Q

2 somewhat similar bony lesions which demonstrate randomly interconnected trabeculae of woven bone rimmed by a single layer of prominent osteoblasts and surrounded by loose connective tissue with many dilated and congested capillaries Both have a relatively small size, well- defined margins, and benign cytologic features of the neoplastic osteoblasts

A

Osteoid osteoma and osteoblastoma

66
Q

most common primary malignant tumor of bone

A

Osteosarcoma

67
Q

region of the long bone where osteosarcomas usually arise in

A

metaphysis of long bones, 50% near the knee

68
Q

Osteosarcoma frequently breaks through the cortex and lifts the periosteum, inducing reactive periosteal bone formation. The triangular shadow between the cortex and raised periosteal ends, known radiographically as

A

Codman triangle

69
Q

Usual mutations in osteosarcoma (4)

A

RB, TP53, CDKN2A, and MDM2

70
Q

Diagnosis of osteosarcoma requires the presence of malignant tumor cells producing (2)

A

unmineralized osteoid or mineralized bone

71
Q

Bone forming tumors (3)

A

osteoid osteoma
osteoblastoma
osteosarcoma

72
Q

the most common benign bone tumor

A

Osteochondroma, or exostosis

73
Q

attached to the skeleton by a bony stalk capped by cartilage

A

osteochondroma

74
Q

About 85% of osteochondromas are solitary and sporadic, with the remainder occurring as part of this autosomal dominant syndrome

A

multiple hereditary exostosis syndrome

75
Q

region of the long bone where osteochondroma most commonly arise in

A

metaphysis near the growth plate of long tubular bones, especially near the knee

76
Q

Hereditary ostechondromas/exostoses are associated with germline loss-of- function mutations in

A

either the EXT1 or the EXT2 gene

77
Q

In osteochondroma, a thick and irregular cap measuring _____ may be indicative of progression.

A

> 2 cm

78
Q

benign tumor of hyaline cartilage that occurs in bones of endochondral origin

A

chondroma

79
Q

chondroma that arise within the medullary cavity are termed

A

enchondroma

80
Q

chondroma that arise on the bone surface are termed

A

juxtacortical chondromas

81
Q

most common intraosseous cartilage tumor

A

enchondroma

82
Q

nonhereditary disorders characterized by multiple enchondromas (2)

A

Ollier disease and Maffucci syndrome

83
Q

Heterozygous mutations present within enchondromas (2)

A

IDH1 and IDH2 genes

84
Q

a phenomenon where in an entity causes oncogenic epigenetic changes in genetically normal neighbors

A

transformation by association

85
Q

Individuals with _______ syndrome develop multiple enchondromas and spindle cell hemangio- mas and are also at risk of developing other malignancies, including brain gliomas, another type of cancer associated with IDH gene mutations

A

Maffucci

86
Q

second most common malignant matrix-producing tumor of bone

A

Chondrosarcomas

87
Q

Chondrosarcomas commonly arise in this location

A

axial skeleton

88
Q

The clear cell variant of chondrosarcoma is unique in that it originates in the

A

epiphyses of long tubular bones

89
Q

Chondrosarcomas arising in multiple osteochondroma syndrome exhibit mutations in the

A

EXT genes

90
Q

chondromatosis-related and sporadic chondrosarcomas may have mutations in

A

IDH1 or IDH2

91
Q

malignant bone tumor characterized by primitive round cells without obvious differentiation

A

Ewing sarcoma

92
Q

second most common group of bone sarcomas in children after osteosarcoma

A

Ewing Sarcoma

93
Q

Bone region Ewing sarcoma usually arises in

A

diaphysis

94
Q

Greater than 90% of Ewing sarcomas contain a balanced translocation involving the

A

EWSR1 gene on chromosome 22

95
Q

majority of Ewing sarcomas have a fusion gene namely

A

EWS/FLI1

96
Q

Age of approximately 80% of patients with Ewing sarcoma

A

< 20 years old

97
Q

Ewing sarcoma usually arises in what bone layer?

A

medullary cavity

98
Q

bone lesion characterized by the presence of numerouus multinucleated osteoclast-type giant cells

A

giant cell tumor of bone / osteoclastoma

99
Q

T/F Giant cell tumor of the bone is composed of neoplastic osteoclasts and their precursors.

A

False. The neoplastic cells are primitive osteoblast precursors that express high levels of RANKL, which in turn promotes the proliferation of osteoclast precursors and their differentiation into mature osteoclasts.

100
Q

The neoplastic cells in GCT of bone have acquired mutations in the gene encoding

A

histone 3.3

101
Q

GCT of bone usually develop in this region of the bone

A

within the epiphysis and may extend into the metaphysis

102
Q

large bony lesion with red-brown masses that frequently undergo cystic degeneration. Histologically, the tumors consist of uniform oval mononuclear tumor cells and abundant osteoclast-type giant cells with 100 or more nuclei

A

GCT of bone

103
Q

bone lesion characterized by multiloculated blood-filled spaces

A

aneurysmal bone cyst

104
Q

chromosomal 17p13 rearrangements in aneurysmal bone cysts results in fusion of the

A

USP6 coding region with the promoters of genes that are highly expressed in osteoblasts

105
Q

developmental abnormalities in which fibrous connective tissue replaces bone. sharply demarcated radiolucent masses surrounded by a thin rim of sclerosis.They are grossly yellow-brown and consist histologically of bland fibroblasts that are frequently arranged in a storiform (pinwheel) pattern and macrophages that can take the form of clustered cells with foamy cytoplasm or multinucleated giant cells

A

fibrous cortical defect is <5cm
nonossifying fibroma is >5 cm

106
Q

a benign tumor that has been likened to localized developmental arrest; all of the components of normal bone are present, but they do not differentiate into mature structures

A

fibrous dysplasia

107
Q

All forms of fibrous dysplasia result from somatic gain-of- function mutations in

A

GNAS1

108
Q

a polyostotic fibrous dysplasia disease, associated
with café-au-lait skin pigmentations and endocrine abnormalities, especially precocious puberty

A

McCune-Albright syndrome

109
Q

GNAS1 mutation occuring during early embryogenesis produces

A

McCune-Albright syndrome

110
Q

syndrome with fibrous dysplasia(usually polyostotic) and soft tissue myxomas

A

Mazabraud syndrome

111
Q

composed of curvilinear trabeculae of woven bone that lack conspicuous osteoblastic rimming and arise in a background of fibrous tissue.

A

fibrous dysplasia

112
Q

most common form of skeletal malignancy

A

Metastatic tumors

113
Q

radiographic appearance of metastases of prostatic adenocarcinoma to bone is usually blastic or lytic?

A

blastic

114
Q

specialized macrophages lining the synovial membrane with phagocytic activity

A

Type A synoviocytes

115
Q

Cells similar to fibroblasts lining the synovial membrane which synthesize hyaluronic acid and various proteins

A

Type B synoviocytes

116
Q

T/F The synovial lining lacks a basement membrane, which allows for efficient exchange of nutrients, waste, and gases between blood and synovial fluid

A

true

117
Q

is characterized by cartilage degeneration that results in structural and functional failure of synovial joints. It is the most common type of joint disease it is considered to be primarily a degenerative disease of cartilage

A

osteoarthritis

118
Q

chronic autoimmune disorder that principally attacks the joints, producing a nonsuppurative proliferative and inflammatory synovitis

A

Rheumatoid arthritis (RA)

119
Q

The autoimmune response in RA is initiated by

A

CD4+ T cells

120
Q

It is estimated that 50% of the risk of developing RA is related to inherited genetic susceptibility namely having the

A

class 2 HLA-DR4 allele

121
Q

RA typically affects

A

small joints of hands and feet

122
Q

characteristic histologic features of RA (5)

A
  1. synovial cell hyperplasia
  2. dense inflammatory infiltrates forming lymphoid follicles
  3. increased vascularity
  4. fibrinopurulent exudate
  5. osteoclastic activity in subchondral bone
123
Q

a mass of edematous synovium, inflammatory cells, granulation tissue, and fibroblasts that grows over and causes erosion of articular cartilage in RA

A

pannus

124
Q

In RA, after the cartilage has been destroyed, the pannus bridges the apposing bones to form a

A

fibrous ankylosis

125
Q

composed of central necrosis rimmed by palisaded macropahges and is seen in RA

A

Rheumatoid nodule

126
Q

is a heterogeneous group of disorders of unknown cause that present with arthritis before 16 years of age and persist for at least 6 weeks

A

Juvenile idiopathic arthritis (JIA)

127
Q

marked by transient attacks of acute arthritis initiated by monosodium urate crystals deposited within and around joints

A

Gout

128
Q

Repeated attacks of acute arthritis lead eventually to the formation of _____, aggregates of urate crystals and inflammatory tissue in the inflamed synovial membrane and periarticular tissue as well as severe cartilage damage that compromises joint function.

A

gouty tophi

129
Q

partial deficiency of _______ interrupts the salvage pathway, so purine metabolites cannot be salvaged and are, instead, degraded into uric acid causing an increase in uric acid production

A

hypoxanthine guanine phosphoribosyl transferase (HGPRT)

130
Q

distinctive patterns of gout (4)

A
  1. Acute arthritis
  2. chronic tophaceous arthritis
  3. tophi
  4. urate nephropathy
131
Q

Crystals associated with gout vs pseudogout

A

uric acid crystal - gout
calcium pyrophosphate - pseudogout

132
Q

An autosomal dominant variant of pseudogout is caused by germline gain-of-function mutations in ___ an inorganic pyrophosphate transporter

A

ANKH

133
Q

small cysts, up to 1.5 cm, and nearly always located near a joint capsule or tendon sheath, develop due to cystic or myxoid connective tissue degeneration; hence the cyst wall lacks a cell lining

A

Ganglion cysts

134
Q

Herniation of synovium through a joint capsule or massive enlargement of a bursa may produce ______. It is associated with rheumatoid arthritis. The cyst lining resembles the synovium, and both cyst and synovium may be hyperplastic. Cyst fluid often contains inflammatory cells and fibrin.

A

synovial cyst / baker cyst

135
Q

benign giant cell rich neoplasm that develops in the synovial lining of joints, tendon sheaths, and bursae

A

Tenosynovial giant cell tumor

136
Q

diffuse tenosynovial gct most commonly involves

A

large joints, most common in knee, followed by hip and ankle

137
Q

localized tenosynovial gct most commonly involves

A

the tendon sheathes along the hands

138
Q

what feature must ALWAYS be present to make a diagnosis of tenosynovial GCT

A

epithelioid mononuclear cells

139
Q

Both diffuse and localized tenosynovial giant cell tumors harbor this reciprocal somatic chromosomal translocation (1;2) (p13;q37) causing the tumor cells to overexpress ____

A

M-CSF

140
Q

components of tenoysunovial GCT (4)

A
  1. epithelioid mononuclear cells
  2. foamy macropahges
  3. osteoclast-like giant cells
  4. hemosiderin-laden macrophages
141
Q

the most common soft tissue tumor in adults

A

lipoma

142
Q

most common sarcomas of adulthood

A

liposarcoma

143
Q

three distinct subtypes of liposarcoma

A

well-differentiated
myxoid
pleomorphic

144
Q

Well-differentiated liposarcomas harbor amplifications of chromosome region 12q13–q15, which includes the p53 inhibitor ____

A

MDM2

145
Q

myxoid liposarcoma, a fusion gene generated by a ______ arrests adipocyte differentiation, leading to unregulated proliferation of primitive cells

A

t(12;16) translocation

146
Q

self-limited fibroblastic and myofibroblastic proliferation that occurs in young adults and arises in the deep dermis, subcutis, fascia, or muscle. It is composed of plump, immature-appearing fibroblasts and myofibroblasts containing elongated nuclei with punctate nucleoli. Mitoses are frequent, but atypical forms are notably absent

A

Nodular fascitis

147
Q

nodular fascitis was previously considered a reactive lesion but is actually clonal and harbors a t(17;22) translocation that produces this fusion

A

MYH9-USP6

148
Q

benign growth that can cause local deformity but has an innocuous clinical course, and is composed of plump spindle cells arranged in poorly defined broad bundles or long, sweeping fascicles surrounded by abundant dense collagen

A

superficial fibromatosis

149
Q

subtypes of superficial fibromatosis (3)

A

Dupuytren contracture, Ledderhose disease, and Peyronie disease

150
Q

is an irregular or nodular thickening of the palmar fascia that can be unilateral or bilateral. Incidence increases with age. Attachment to overlying skin can cause puckering or dimpling and a slowly progressive flexion contracture

A

Dupuytren contracture, or palmar fibromatosis

151
Q

occurs in boys from under 10 years of age into adolescence. It is unilateral and does not cause contractures but can be associated with palmar and penile fibromatosis.

A

Ledderhose disease, or plantar fibromatosis

152
Q

is a palpable induration or mass on the dorsolateral aspect of the penis. Eventually, it may cause abnormal curvature of the shaft and constriction of the urethra.

A

Peyronie disease, or penile fibromatosis

153
Q

large, infiltrative masses that frequently recur but do not metastasize. They are rubbery and tough and infiltrate surrounding muscle, nerve, and fat. Bland fibroblasts arranged in long parallel fascicles amid dense collagen are characteristic

A

Deep fibromatoses (desmoid tumors)

154
Q

Deep fibromatoses (desmoid tumors) contain mutations in

A

APC or CTNNB1 (β-catenin) genes

155
Q

In contrast to tumors of other cell types, skeletal muscle neoplasms are almost all (benign or malignant?).

A

malignant

156
Q

a malignant mesenchymal tumor with skeletal muscle differentiation

A

rhabdomyosarcoma

157
Q

4 subtypes of rhabdomyosarcoma in order of most common

A

embryonal
alveolar
pleomorphic
spindle/sclerosing

158
Q

Alveolar rhabdomyosarcoma frequently contains fusions of the _____ gene with ____ or ____

A

FOXO1 gene, PAX3 or PAX7

159
Q

rhabdomyosarcoma subtype that is traversed by a network of fibrous septae that divide the cells into clusters or aggregates, creating a crude resemblance to pulmonary alveoli.

A

alveolar

160
Q

T/F synovial sarcoma can not present in locations that lack synovium

A

False

161
Q

A characteristic chromosomal translocation t(x;18) (p11;q11) that produces fusions of the_____ gene is present in most synovial sarcomas

A

SS18

Bone, Joints, and Soft tisue tumors (1 decks)

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