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OS4-MS/Derm/Rheum > Bone Disorders, Tumors of Bone, Tumors of Soft Tissue > Flashcards

Bone Disorders, Tumors of Bone, Tumors of Soft Tissue Flashcards

1
Q

Osteogenesis imperfecta

A
  • defective synthesis of Type I collagen, mutations in either alpha 1 or 2 chains.
  • 4 major types; 2 to know are:
    1. Type I - mild bone fragility, rib deformities, BLUE SCLERA, normal lifespan, slight inc. risk of fracture; can include hearing loss and small misshapen teeth (from dentin deficiency)
    2. Type II - pre/perinatally lethal b/c of multiple fractures prior to birth
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2
Q

Anchondroplasia

A
  • most common form of dwarfism; AD or spontaneous mutation (80%)
  • activating mutation in FGFR3 which constantly inhibits cartilage proliferation/growth
  • therefore affects all bones that grow via enchondral ossification (cartilage intermediate)
  • phenotype: short stature, disproportionate shortening of the proximal extremities, bowing of the legs, and frontal bossing with midface hypoplasia; cartilage that is there is disordered and hypoplastic
  • type: thanatophoric is lethal due to small thorax and respiratory complications
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3
Q

Osteopetrosis

A
  • a deficiency of carbonic anhydrase II which leads to a loss of acidic environment needed for bone resorption - therefore, bones are dense like stone, eventually weaken and fracture like a piece of chalk
  • clinically will see fractures, cytopenias, vision/hearing impairment, hydrocephalus, RTA/metabolic acidosis from reduced reabsorption of HCO3
  • micro will see multiple irregular bony trabeculae with residual cartilage, no increased osteoclasts; hematopoiesis but in a smaller marrow cavity
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4
Q

Rickets

A

-defective matrix mineralization and accumulation of unmineralized bone matrix because of a Vitamin D disturbance
-clinically will see pigeon chest deformity, frontal bossing, rachitic rosary ribs, and bowed legs. ON x-ray will see distal ends of long bones as flared, frayed, and cupped with large distance between the radius and metacarpals.
-microscopically will see thickened, non-calcified, poorly defined growth plate (von Kossa stain)
+Pathophysio = Vit D stimulates osteoblasts to produce osteocalcin, a Ca-binding protein needed for Ca deposition in bone development.

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5
Q

Rickets vs. Osteomalacia

A
  • Rickets is in kids; Osteomalacia is in adults - both are inadequate osteoid mineralization of trabeculae that leads to weak bones and fracture
  • both have decreased Ca and P, increased PTH and alkaline phosphatase
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6
Q

Osteomyelitis

A
  • infection of bone, usually bacterial, usually kids
  • caused by direct inoculation (trauma), contiguous spread (cellulitis), or hematogenous spread
  • will have bone pain + systemic signs of infection; lytic focus (abscess, called “sequestrum”) on x-ray surrounded by sclerosis (“involurum”–subperiosteal shell of reactive viable new bone)
  • draw blood for cultures before starting treatment
  • one of the few conditions in which ESR >100mm/hr
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7
Q

Osteoporosis

A
  • reduction in trabecular bone mass, resulting in porous bone with inc. risk of fracture
  • 2 types: senile, postmenopausal
  • contributing factors include - aging: dec. synthetic and replicative activity of osteoblasts/progenitors, reduced physical activity; PM: dec. serum estrogen, inc. IL-1/6/TNF, RANK/RANKL, inc. osteoclast activity
  • can treat with bisphosphonates, which inhibit bone resorption by binding to bone material
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8
Q

Pathologic vs. Non-pathologic fractures

A

Pathologic = bones break after trivial trauma; most common underlying pathology is osteoporosis; may also be due to underlying malignancy or bone cyst

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9
Q

Osteonecrosis

A
  • Ischemic necrosis of bone and marrow; wedge-shaped pale area of necrosis
  • causes: fracture/trauma, steroids, SCD, alcohol abuse, decompression sickness (bends)
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10
Q

Pagets Disease of Bone

A
  • like osteoporosis, it’s an imbalance of osteoclast and osteoblast activity; typically localized (differentiating feature)
  • has 3 phases: lytic, mixed, and sclerotic; characteristic “cotton wool” appearance of skull
  • unknown etiology but possible viral, familial predisposition - Chr18
  • most common cause of isolated elevated alkaline phosphatase in pts >40yo; patients will notice that their hat size has gone up
  • inc. risk of osteosarcoma
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11
Q

Hyperparathyroidism

A

-Primary = hyperplasia or tumor (adenoma) of the
parathyroid gland
-Secondary = prolonged states of hypocalcemia with resulting hypersecretion of PTH
-Inc. PTH –> osteoblasts –> osteoclasts –> bone resorption
-substantial resorption of bone causes cyst-like brown tumors (fibrous tissue and woven bone without matrix)

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12
Q

Renal Osteodystrophy

A
  • term to collectively describe skeletal changes associated with CKD wherein the kidney fails to convert Vitamin D to active form (as such, Ca isn’t absorbed, so PTH is released to try and increase Ca absorption and also increases bone resorption)
  • includes osteoclastic bone resorption that mimics OFC, osteomalacia, osteosclerosis, growth retardation, and osteoporosis
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13
Q

Name the common bugs that cause osteomyelitis in these populations:
most common, sexually active young adults, diabetics/IVDAs, SCD patients; infection of the spine

A
  • Staph aureus – 90%, most common
  • N. gonorrhoeae – sexually active young adults
  • Salmonella – sickle cell disease
  • Pseudomonas – diabetics or IV drug abusers
  • Mycobacterium tuberculosis – typically the spine (Pog disease)
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14
Q

von Recklinghausen Disease of bone, aka osteitis fibrosa cystica (OFC)

A

seen with advanced hyperparathyroidism, it’s the combination of increased bone cell activity, peritrabecular fibrosis, and cystic brown tumors

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15
Q

Simple vs. compound fracture

A 
simple = closed
compound = pierces skin, open; must use antibiotics
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16
Q

Displaced vs. Spiral fracture

A 
displaced = bone is move from anatomic position, must be reduced before healing
spiral = type of displaced fracture, result of torque trauma; may represent child abuse but spiral fracture of the distal tibia in a toddler may occur with regular activity
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17
Q

Scaphoid fracture

A
  • may not appear on X-ray during first week
  • pain at snuffbox
  • must be splinted or proximal scaphoid may undergo avascular necrosis
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18
Q

Presentation of skull base fracture

A

periorbital ecchymoses, mastoid ecchymoses, or CSF leakage through the ears or nose (salty metallic taste)

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19
Q

Child abuse fractures

A
  • rib fractures, spiral fractures (other than toddler’s tibia fracture), and fractures of different ages may indicate some dark shit going down at home
  • shaken baby syndrome - SDH, retinal hemorrhage may also be found
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20
Q

Complications of fractures

A
  • DVT, PE, fat emboli (long bones), compartment syndrome (most commonly in forearm and leg)
  • identify compartment syndrome with the 5 P’s (pain, pallor, paresthesia, pulselesness, paralysis) treat with fasciotomy
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21
Q

What is the most common benign bone-forming tumor in children/adolescents?
What is the most common malignant bone-forming tumor in children/adolescents?

A

Benign: osteoid osteoma
Malignant: osteosarcoma; second is Ewing sarcoma

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22
Q

What is the most common benign cartilage-forming tumor in children/adolescents (

A

Benign: osteochondroma (outpouching of bone from main body of bone w/ mature bone stem & cartilaginous head)
Malignant: chondrosarcoma (the only malignant cartilage-forming tumor we discussed)

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23
Q

Describe the tumors that commonly metastasize to bone, the radiologic manifestations of metastatic lesion involving bone, and the difference between osteoblastic and osteolytic metastases.

A

Common metastases: BLT+K+P
Radiologic manifestations: “punched out” lytic lesions
Difference between osteoblastic and osteolytic metastases: osteoblastic appear sclerotic and bright white, whereas osteolytic appears as “punched-out”, radiolucent lesions

24
Q

Describe the tumors that commonly metastasize to bone, the radiologic manifestations of metastatic lesion involving bone, and the difference between osteoblastic and osteolytic metastases.

A

Common metastases:
Radiologic manifestations:
Difference between osteoblastic and osteolytic metastases:

25
Q

Osteoma

A

What: Bone forming tumor composed of compact or mature trabecular bone limited almost exclusively to craniofacial bones, especially paranasal sinuses. Associated with Gardner syndrome (AD APC [5q21] mutation that causes multiple colon polyps and extracolonic tumors).
Gross: sessile with a polypoid shape, usually ~3cm
Micro: dense compact bone with a paucicellular stroma

26
Q

Osteoid osteoma

A

What: Benign tumor of osteoblasts, typically in cortex of long bones, that produces osteoid (pink stuff), surrounded by a rim of reactive bone. Presents as bone pain that’s relieved with ASA.
Gross: On X-ray appears as bony mass with radiolucent core.
Micro: randomly interconnected trabeculae of woven bone, prominently rimmed by a single cell layer of osteoblasts; stroma surrounding the neoplastic bone consists of loose connective tissue containing dilated and congested capillaries.

27
Q

Osteoblastoma

A

What: similar to an osteoid osteoma (benign tumor of osteoblasts) but is larger, arises in the vertebrae. Presents with bone pain that doesn’t respond to aspirin.
Gross: typically found in vertebrae, on X-ray appears as bony mass with radiolucent core.
Micro: anastomosing trabeculae of osteoid and woven bone rimmed by osteoblasts

28
Q

Osteosarcoma

A

What: Malignant proliferation of osteoblasts (“malignant osteoid/cartilage”). Most commonly arises in the knee, 60% males, age 10-20. Highly associated with RB mutation, TP53, INK4a, and MDM2(Rb)/CDK4(p53)
Gross: Codman triangle (periosteal reaction to the advancing tumor) on X-ray is characteristic but not diagnostic, indicates aggressive tumor
Micro: poorly formed bone spicules in a hypercellular matrix of osteoid, , often described as “lace-like”. Numerous pleomorphic malignant cells that vary in size and shape (bizarre tumor giant cells) and often have large hyperchromatic nuclei.

29
Q

Chondroma

A

What: Benign cartilaginous tumor; either enchondroma, subperiosteal/juxtacortical chondroma, or soft tissue chondroma. Associated with mutations in IDH1/IDH2 genes.
Gross: gray-white mass with color and consistency similar to
normal cartilage
Micro: numerous chondrocytes closely packed near the
periphery, in a pink ground substance that vaguely resembles normal cartilage (but normal hyaline cartilage has blue ground substance)

30
Q

Osteochondroma

A

What: benign tumor of bone that starts as outpouching of cartilage from epiphyseal plate; slow-growing and can be painful, usually stops growing at puberty and ossifies but can transform to chondrosarcoma
Gross: resembles a mushroom with a cap of cartilage
Micro:

31
Q

Chrondrosarcoma

A

What: Malignant cartilage forming tumor (no osteoid) that arises in the medulla of the pelvis or central/axial skeleton
Gross: tumor does not respect joint spaces and will invade the joint
Micro: pretty cellular; cells that mimic normal chondrocytes appear to float in a chondroid-like matrix. At high will see the tumor cells have large nuclei, high nuclear:cytoplasmic ratio, and abundant mitotic figures

32
Q

Fibrous cortical defect

A

What: Large (>5cm), benign non-ossifying fibroma, typically asymptomatic, likely a developmental defect; occurs in teens
Gross: intramedullary, radiolucent on X-ray
Micro: spindle cells in storiform pattern with scattered giant cells, histiocytes, cholesterol clefts, and hemosiderin

33
Q

Giant cell tumor

A

What: tumor of giant cells and stromal cells in the epiphysis of long bones (typically knee), in young adults and expresses high levels of RANKL
Gross: “soap bubble” on X-ray
Micro: regular/uniform distribution of tumor cells with ovoid, prominent nucleoli; fibroblast activity and formation of reactive bone and osteoid surround the tumor

34
Q

Ewing sarcoma

A

What: malignant proliferation of primitive neuroectoderm cells, undifferentiated, usually in white males

35
Q

Solitary bone cyst

A

What: benign lytic lesion, fluid-filled cyst, thin wall; usually in males

36
Q

Aneurysmal bone cyst

A

What: benign cyst in the bone filled with blood (like a sponge); grows rapidly
Gross: x-ray shows radiolucent bone deformity
Micro: highly vascularized tissue and clotted blood; may contain giant cells but the difference between this and giant cell tumor is the rich capillary bed

37
Q

Encondroma

A

What: a type of benign cartilaginous tumor; usually asymptomatic that occurs in the small bones of hands and feet. Ages 20-49. If multiple, associated with chondrosarcomal transformation; also associated with Maffuci syndrome and Ollier disease
Gross: Radiolucent nodule
of hyaline cartilage with
scalloped endosteal surface.

38
Q

Maffuci syndrome

A

syndrome of multiple enchondromas and soft tissue hemangiomas, ovarian carcinoma, and brain glioma

39
Q

Syndromes of fibrous dysplasia (2)

A
  1. Mazabraud syndrome: fibrous dysplasia plus soft tissue myxomas
  2. McCune-Albright syndrome: fibrous dysplasia plus cafe-au-lait skin pigmentations and endocrine abnormalities (esp. precocious puberty)
40
Q

What is Pott’s Disease?

A

Disseminated TB to the spine, resulting in tuberculous arthritis of the vertebral joints.

41
Q

Ganglion cyst

A
  • Small cyst-like spaces with no epithelial lining; contain myxoid material
  • Best thought of as a degenerative phenomenon in tendons or other connective tissue near joints
  • Usually subcutaneous and relatively common.
42
Q

Giant Cell Tumor of Tendon Sheath

A
  • Benign tumor of multinucleated giant
    cells
  • Background of histiocytes and cells that resemble synoviocytes.
  • Often located near joints, can interfere with function.
  • Well-circumscribed tumor and yellow because it contains many lipid laden macrophages.
43
Q

Tenosynovial Giant Cell Tumor

A
  • Localized, benign, destructive lesion within a single joint, usually knee
  • Proliferation of synovium, hemosiderin, pigment deposition, and destruction of the joint
  • Used to be called “pigmented villonodular synovitis” (still accurate description)
44
Q

Lipoma

A
  • Most common benign ST tumor.
  • Benign tumor of mature adipose tissue; usually found on superficial extremity or trunk
  • Most are mobile, slow growing, and painless (angiolipomas can manifest with local pain).
  • Well-circumscribed yellow mass and complete excision is usually curative.
  • Some have cytogenetic abnormalities - 55-75% with HMG on chromosome 12.
45
Q

Liposarcoma

A
  • Malignant adipose tumor, 3 subtypes:
    1 - Well differentiated liposarcoma with adipocytes and scattered spindled cells - indolent prognosis
    2 - Myxoid liposarcoma with lots of basophilic matrix, arborizing vessels, variable adipocyte differentiation reminiscent of fetal fat - interm. prognosis
    3 - Pleomorphic liposarcoma with anaplastic cells, bizarre nuclei and lipoblasts (immature adipocytes, look bubbly) - worst prognosis
  • Occurs in deep ST of the prox extremities and in RP, in pts 50-60yo
  • Immuno+ for MDM2 & CDK4 or molec. test + for 12q13-15 amplification
  • Recur locally and repeatedly unless adequately excised
46
Q

Nodular Fasciitis

A

Benign fibrous tumor

  • Rapidly growing, benign, fibroblast proliferation in subcutis
  • Highly cellular, plump fibroblasts in fascicles (looks like tissue culture) and abundant mitotic figures
  • Commonly in the arms
  • 25% have history of trauma
  • Shown to be clonal but self- limited
47
Q

Myositis ossificans

A
  • metaplastic bone mass that arises in proximal extremities following trauma (commonly athletes)
  • see periosteal reaction with eggshell calcification/mature bone at periphery 3-6wk after injury, fibrous tissue resembling nodular fasciitis at center, osteoid in between
  • can be hard to distinguish from osteosarcoma, but excision usually curative
48
Q

Fibromatosis - superficial

A
  • infiltrative fibroblastic
    proliferation that causes local deformity; M>F
  • nodular or poorly defined broad fascicles of fibroblasts in dense collagen
  • 3 location types:
    1 - Palmar (Dupuytren
    contracture) - Irregular nodular thickening of palmar fascia, 50% bilateral, progressive contracture of 4th and 5th fingers
    2 - Plantar - Young patients, unilateral and without contractures
    3 - Penile (Peyronie)
    disease - Palpable induration or mass on the dorsal penis, eventual curvature of the shaft and/or constriction of the urethra
49
Q

Fibromatosis - deep

A
  • Large infiltrative masses that recur but do not metastasize; technically benign but can cause non-benign effects like abdominal obstruction
  • teens to 30’s, female
  • Broad fascicles amid dense collagen, similar to a scar; immuno+ for beta-catenin
  • Assoc. with APC gene or Beta-Catenin, both lead to inc. WNT signaling; also assoc. w/ Gardner’s syndrome, so look for colon polyps, forehead masses, etc.
50
Q

Fibrosarcoma

A
  • malignant neoplasm of fibroblasts
  • adults, typically deep thigh or RP; local recurrence common and 25% hematogenous spread to lungs
  • unencapsulated with necrosis and hemorrhage; micro patterns vary: fibromatosis-like, herringbone, or architectural disarray
51
Q

Rhabdomyoma

A
  • Most frequent primary tumor of pediatric heart
  • benign tumor of cardiac muscle, maybe hamartoma rather than true neoplasm, most spontaneously regress
  • 50% assoc. with tuberous sclerosis, mutations of TSC1/TSC2 genes
52
Q

Rhabdomyosarcoma

A

*Alveolar and embryonal are most common ST sarcoma of childhood
- malignant mesenchymal tumor with skeletal muscle differentiation
- rhabdomyoblasts with sarcomeres, Z bands, and eosinophilic inclusions are hallmark histo finding
- the sarcoma is usually made up of bizarre cells with abundant cytoplasm, elongated “strap” cells may look like sk. muscle cells with cross striations
- 3 subtypes:
1 - alveolar - predominantly in kids, resembles lung tissue due to the fibrous septae that divide cells into clusters
2 - embryonal - soft grey infiltrative mass composed of spindled and round cells in myxoid stroma, in kids; variant = sarcoma botyoides in hollow mucosa-lined areas
3 - pleomorphic - predominantly in adults, numerous large, multinucleated bizarre eosinophilic tumor cells that can stain for myogenin

53
Q

Leiomyoma

A
  • Most common neoplasm in women
  • benign tumor of smooth muscle
  • Fascicles of densely eosinophilic spindle cells that often intersect at right angles
  • Germline LOF mutation in fumarate hydratase gene assoc. with hereditary leiomyomatosis and RCC syndrome
  • uterus is a common site
54
Q

Leiomyosarcoma

A
  • malignant tumor of smooth muscle
  • arises in deep ST of extremities and RP; particularly deadly form can arise from great vessels; usually painless, can be large/bulky
  • eosinophilic spindle cells with blunt- ended, hyperchromatic nuclei in interweaving fascicles
  • tend to metastasize to lung via hematogenous spread; major COD
55
Q

Synovial sarcoma

A
  • mass that was first found in synovium near the knee but can present in locations with or without synovium
  • characteristic t(X;18) translocation
  • arises in pts 20-40yo, mets to lung common, sometimes lymph node
  • 2 histo types: monophasic and biphasic, first phase is uniform spindle cells, biphasic also include gland-like structures
56
Q

Undifferentiated pleomorphic sarcoma

A
  • Malignant high grade waste basket (can’t otherwise be identified)
  • large, grey-white fleshy masses (10-20 cm) with sheets of anaplastic spindled to polygonal cells; atypical mitotic figures and bizarre nuclei
  • Necrosis and hemorrhage common

OS4-MS/Derm/Rheum (10 decks)

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