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Bone and Soft tissue > Bone and soft tissue > Flashcards

Bone and soft tissue Flashcards

1
Q

What is the most common primary malignancy of bone?

A

Multiple myeloma

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2
Q

Name 3 causes of osteomalacia

A
  • Vit D deficiency - X-linked hypophasphatemia - Malabsorption
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3
Q

What is the most common type of collagen found in bone?

A

-Type 1

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4
Q

Name 3 types of fractures classic for non-accidental injury in children

A
  • Bucket handle # (proximal tibial metaphysis) - Complex skull # - String of pearls #s in paravertebral gutters
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5
Q

What is the prognosis for granular cell tumors?

A
  • Excellent
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6
Q

What is the classic IHC staining pattern in chordoma?

A
  • Brachyury+, S100+, vimentin +
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7
Q

Name 3 factors for local recurrence of chondroblastoma in bone:

A
  • Size - Site - Adequacy of resection
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8
Q

What is the most common causative organism of osteomyelitis in children > 1yr?

A
  • S. aureus
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9
Q

Name 3 risk factors/associations with rheumatoid arthritis:

A
  • MHC Class II antigens (DR) - Female gender - Certain ethnic groups
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10
Q

What is the typical cytogenetic abnormality in low-grade fibromyxoid sarcoma?

A
  • t (7;16)
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11
Q

Name 3 clinical features of nodular fasciitis?

A
  • Rapid growth - Found in subcutaneous tissue - History of trauma
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12
Q

The FNC-LCC grading system for soft tissue sarcomas predicts what:

A
  • Likely hood of distant metastases
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13
Q

Alveolar soft part sarcoma demonstrates what ultrastuctural features?

A
  • Rhomboidal crystals
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14
Q

Desmoid tumors (aka deep fibromatosis) are associated with which tumor pathway?

A

-APC/B-catenin

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15
Q

Give 3 IHC markers positive in leiyomyosarcoma?

A
  • Desmin, H-Caldesmon, actin, +/- some keratin
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16
Q

How are atypical neurofibromas treated?

A
  • Local excision with margin (thin)
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17
Q

A palisading granuloma with central mucin deposition is most characteristic of:

A
  • Granuloma annulare
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18
Q

Name 3 associations with Lyme disease

A
  • Borrelia burgdorferi - Arthropod bites - Synovitis
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19
Q

Name 3 findings in Carney’s disease

A
  • Superficial angiomyxomas - Cardiac myxomas - Spotty skin pigmentation - Endocrine hyperactivity
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20
Q

High-grade bone sarcomas most frequently metastatize to which site?

A

-Lung

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21
Q

The most common site of extramammary myofibroblastoma is:

A
  • Inguinal region
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22
Q

How much bone loss before osteopenia shows up on x-ray?

A
  • 40%
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23
Q

Ochronosis (alkaptonuria) may result in which post-mortem findings:

A
  • Black discoloration of tracheal rings - Nephrolithiasis - Vertebral anklylosis
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24
Q

What is the most common cause of prosthetic joint failure?

A

-Aseptic loosening

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25
Q

Classify cartilagenous tumors of bone

A
  • Osteochondroma - Chondroma (enchondroma/periosteal chondroma) - Chondroblastoma - Chondromyxoid fibroma - Chondrosarcoma (conventional, dedifferentiated, mesenchymal, clear cell)
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26
Q

Compare and contrast enchondroma and chondrosarcoma by clinical, radiological, microscopic findings:

A

Enchondroma: young pts, not painful, 5cm, central (pelvis, long bones), cortical erosiion/destruction & soft tissue extension; micro: hypercellular, cytologic atypia (binucleated, hyperchromatic), Mitoses, necrosis, infiltrative, myxoid matrix

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27
Q

Name hereditary risk factors for the development of chondrosarcoma?

A
  • Multiple enchondromatosis (Maffuci, Ollier) - Hereditary multiple osteochondromas (EXT1 gene)
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28
Q

Define osteomalacia

A
  • A defect in the mineralization of bone resulting in accumulation of osteoid (non-mineralized bone)
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29
Q

List 2 histologic features of osteomalacia

A
  • Increase in osteoid (increased seam thickness, osteoid >25%) - Decreased minerization (smudging, decreasing space between waves) - Multiple #’s
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30
Q

List 3 causes of osteomalacia

A
  • Poor intake (vit D, Calcium or phosphate) - Malabsorption (TPN, no sunlight) - Interfererence/inhibition of mineralization (acidosis, FE, fluoride, aluminum) - impaired reabsorption (x-linked hypophosphatemic rickets, renal tubular defects) - drugs (phenytoin, rifampin, isoniazid, phenobarb) - Hepatobiliary disease (binding by bile acids) - Phosphaturic mesenchymal tumors - Vitamin D resistant rickets (calcitriol receptor defect)
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31
Q

Describe handling and processing of bone biopsy for metabolic bone disease

A
  • Fix in 70% alcohol (to preserve tetracycline label) - No decal - Embed in plastic (glycol/methyl methacrylate) - Prepare 5-10 micro sections cut and stained with H&E, von Kossa for measurement of mineralized bone vs osteoid - Do other stains as needed (iron, etc.) - Cut unstained sections for fluorescent microscopy
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32
Q

Differentiate gout from pseudogout in tissue sections

A

Gout: long, needle shaped, brown/white on H&E, negative birefringence (yellow) aligned with red compensator, ++giant cell response CPPD: square/rhomboid, magenta on H&E, positive birefringence (blue), occasionally giant cell response

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33
Q

How do you handle a fresh specimen for gout?

A
  • monoSodium urate is soluble in water (formalin has water!), so do touch preps and fix in alcohol - stain as usual - polarize with compensator
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34
Q

List 3 findings at autopsy in a patient with gout

A
  • Gouty tophi (soft tissue collections of urate) toes, fingers, ear, elbow - Nephrolithiasis - Uric acid deposits in synovium , menisci - Joint deformities
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35
Q

List 3 non-genetic risk factors for gout

A
  • Diabetes - HTN - Lymphoproliferative disease - Obesity - High purine diet +/- ETOH - Renal insufficiency - Hyperparathyroidism - medications (diuretics) - hypothyroidism
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36
Q

Describe CPPD findings on a typical knee x-ray

A

-A linear, radio-opaque deposition in joint space (CPPD dehydrate deposition in the menisci)

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37
Q

Define Osteoporosis

A
  • Decrease in the amount of bone, so that microarchitecture is weakened and prone to spontaneous fracture
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38
Q

List 5 causes of osteoporosis or conditions associated with osteoporosis

A
  • Postmenopausal/older age - Thins or small framed caucasian women - Endocrine abnormalities (estrogen deficiency, acromegaly, adrenocortical insufficiency, hypothyroidism, hyperparathyroidism, hypopituitarism) - Drugs (steroids, alcohol, anticonvulsants, heparin) - Infiltrative marrow disease (lymphoma, gaucher, mets) - Inactivity, immobilization - Diet (low vit D, calcium, high protein) - Smoking
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39
Q

List 3 common sites of # in osteoporosis

A
  • Verebrae (compression #) - Femur (head of, neck of) - Distal radius (colle’s) - Proximal humerus
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40
Q

Define Paget disease of bone

A
  • Genetic skeletal disorder characterized by the activation of osteoblasts and osteoclasts, resulting in abnormal bone remodelling (‘uncoupling”, with osteoclasts predominating first then osteoblasts (3 phases)
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41
Q

List 4 clinical symptoms of Paget’s disease

A
  • None (asymptomatic) - Bone: pain +/- warmth, arthritis, #, deformity, sarcoma “saber shin” - Neurological: cranial/spinal nerve compression, deafness, brainstem compression - Cardiac: high output CHF, hypertrophy - Other: nephrolithiasis, hypercalcemia
42
Q

List 3 stages of Paget disease and their corresponding histology

A
  • Early lytic phase, ++ osteoclast activity (multinucleate), bone resorption - Active, ongoing: increased remodeling of bone (increased osteoclast and osteoblast activity) with bone formation and resorption, thick and thin trabeculae, woven bone, ireegular cement lines, fibrosis - Inactive (burned out): non-specific, marrow fibrosis, thickened irregular cement liens
43
Q

What is the pathogenesis of Paget disease?

A
  • Inherited predisposition as AD trait (chromosome 18, encoding sequestosome 1/p62) - May be initiated by a virus (RSV, parmyxovirus, parainfluenza, canine dystemper)
44
Q

Which bones are most commonly affected in paget’s?

A
  • Pelvis, verebrae/sacrum, femur, skull
45
Q

Describe the typical clinical presentation of osteoid osteoma

A
  • Young males (2nd decade) - Present with severe localized pain - Night pain, relieved with ASA/NSAIDS
46
Q

What are the typical findings of osteoid osteoma on plain x-ray?

A
  • Small, circumscribed (~1cm) - intracortical - Common locations: shaft of femur, tibia, distal humerus, fingeres - Nidus: lytic area surrounded by sclerosis +/- targetoid appearance due to central ossification
47
Q

Describe an osteoid osteoma nidus

A
  • Vascular fibroconnective tissue containing thin, irregular trabeculae of benign osteoid rimmed by plump osteoblasts - Outer rim of dense sclerotic bone - May have central ossification
48
Q

What is the ddx of an osteoid osteoma if >2cm?

A

osteoblastoma

49
Q

Describe the gross appearance of giant cell tumors of bone:

A
  • Usually epiphysis - Circumscribed, may erode cortex +/- # - Moderate size (4-8 cm) - Sift, hemorrhagic, gritty
50
Q

List 3 characteristic histologic features of giant cell tumors of bone:

A
  • Numerous, evenly distributed multinucleate giant cells (some >100 nuclei) - Stromal cell component with nuclei identical to those in giant cells - Frequent mitoses, hemorrhage/hemosiderin - No bone (unless periphery sampled)
51
Q

List 3 entities in DDx for giant cell tumor of bone

A
  • Giant cell granuloma - Brown tumor of bone (hyperparathyroidism) - Other tumors containing giant cells (including chondroblastoma, giant-cell rich osteosarcoma)
52
Q

Name 5 tumors that may show EWSR1 breakpoint translocations

A
  • Ewing’s sarcoma - DSRCT - Clear cell sarcoma - Angiomatoid fibrous histiocytoma - myxoid liposarcoma (some) - extraskeletal myxoid chondrosarcomas
53
Q

Classify cartilagenous tumors of bone

A
  • Osteochondroma - Chondroma (enchondroma/periosteal chondroma) - Chondroblastoma - Chondromyxoid fibroma - Chodrosarcoma (conventional, dedifferentiated, mesenchymal, clear cell)
54
Q

List 3 common sites of avascular necrosis of bone. Why does this condition occur at these sites?

A
  • Femoral head, proximal scaphoid, posterior talus - Tenuous blood supply with limited or no collateral vessels
55
Q

List 6 risk factors/associations for avascular necrosis of bone

A
  • Trauma - Corticosteroid use - Alcoholism - Gaucher’s - Hypercoagulable states - Sepsis - Vasculitis - Idiopathic - Dysbarism - Radiation
56
Q

Describe the classic x-ray appearance of early osteonecrosis in the femoral head

A
  • May be no changes initially - Preserved joint space early on - Cystic and sclerotic change, with subchondral fractures changing the contour of the joint - Subsequent collapse of infarcted area, giving lucent area or crescent sign
57
Q

Describe the classic clinical presentation of osteosarcoma

A
  • young male, 10-20, large stature - painful mass, pathologic fracture - large aggressive tumor in metaphysis of long bones, typically in distal femur/proximal tibia
58
Q

List 3 risk factors for osteosarcoma

A
  • Hereditary RB mutation - Radiation - Long-standing underlying bone abnormality (fibrous dysplasia) - germline p53 mutations - germline p16/INK4a mutations
59
Q

Identify at least 3 important prognostic factors for osteosarcoma

A
  • Location: parosteal>periosteal>coventional intramedullary - Stage (most important) - Grade - Site (extremity>axial) - Histologic subtype (small cell=bad, low-grade fibroblastic=better
60
Q

What is the estimated incidence of osteoarthritis in 20s, 40s, 70s?

A
  • 5% in 20s, 30% in 40s, 70% in 70s
61
Q

List 4 radiologic features of osteoarthritis

A
  • Joint space narrowing - Osteophyte formation - Subchondral pseudocysts and sclerosis - Joint enlargement - Varus deformity
62
Q

Describe 4 gross findings of osteoarthritis

A
  • Cartilage pitting, scoring, fibrillation, erosion - Eburnation and sclerosis of bone - Osteophyte and subchondral pseudocyst formation - Deformity of bone - Secondary osteonecrosis
63
Q

What treatments are available for osteoarthritis?

A
  • Anti-inflammatories - Physiotherapy, exercise - Occupational therapy assistance - WEight loss - Joint replacement
64
Q

In which WHO category does fibrous dysplasia of bone belong?

A
  • Miscellaneous lesions
65
Q

Classify 3 forms of fibrous dysplasia in bone

A
  • Monostotic - Polyostotic, monomelic - Polyostotic, polymelic
66
Q

Describe the microscopic features of fibrous dysplasia of bone

A
  • Well circumscribed, fibro-osseus proliferation; basically all components of bone but disorganized and immature - Fibrous component is bland spindle cells with rare mitoses - Osseus component is uniform, thin curvilinear trabeculae of woven bone with paucity of osteoblasts (chinese letters) - secondary features may include aneurysmal bone cysts, foam cells, giant cells, cartilagenous component
67
Q

List 2 syndromes associated with fibrous dysplasia of bone

A
  • McCune Albright: precocious puberty and other endocrine abnormalties, cafe au lait spots on skin - Mazabraud syndrome-intramuscular myxomas
68
Q

List 3 complications of fibrous dysplasia of bone

A
  • Pathologic fractures - Deformities/cosmetic - secondary ABC formation - malignant transformation (rare)
69
Q

List top four ddx for a small round blue cell tumor (paraverebral) in a 2yr male

A
  • Ewing/PNET - Metastatic neuroblastoma - malignant lymphoma - alveolar rhabdomyosarcoma
70
Q

What IHC can help in the ddx of small round blue cell tumors in children

A
  • CD99, FLI1 - CD45/TdT - Synaptophysin/CHromogranin/GFAP - Desmin, myoD1/myogenin
71
Q

What are 3 ancillary tests that can confirm diagnosis of Ewings/PNET, specify the abnormality.

A
  • Conventional cytogenetics for t (11;22) - FISH for EWS (breakapart probe) - PCR for EWS/FLI1, EWS/ERG fusion transcripts
72
Q

Describe grading of treatment effect in post-chemotherapy resection of Ewings

A
  • Treatment effect based on assessment of tumor necrosis Grade 1: 0% (no effect) Grade 2: <50% necrosis (low effect) Grade 3: 50-95% necrosis (high effect) Grade 4: 96-99% (scattered foci of tumor only) Grade 5: no residual viable tumor
73
Q

List the most common sites of liposarcoma

A
  • Retroperitoneum - Thigh, buttock, arm, trunk/abdomen - Scrotum/groin (inguinal canal–hernia)
74
Q

List the clinical, microscopic and cytogenetic features of the myxoid liposarcoma

A
  • Clinical: young to middle aged adults, deep seated, large mass >10cm, found in thigh/buttock/knee/lower leg (never retroperitoneal) - Micro: sheets of uniform, small round-oval cells, some signet-ring lipoblasts. Myxoid matrix and prominent pattern of arborizing, thin-walled capillaries. Mitoses and necrosis rare. - Cytogenetics: t (12;16) DDIT3 gene
75
Q

What is the classification of liposarcoma, and what are the prognostic implications of each category?

A
  • Well differentiated liposarcoma/atypical lipomatous tumor: prognosis depends on location. Peripheral can be cured by local escision, deep recur but don’t metastasize unless they dedifferentiate
  • Dedifferentiated liposarcoma: local recurrence common, distant mets in 20%
  • Myxoid/round cell: Depends on histologic grade (% of round cell). Low-grade has high recurrence rate. High grade with >5% round cell metastasize in 40%
  • Pleomorphic liposarcoma: High metastatic rate and mortality
  • Mixed type (too rare to know)
76
Q

Describe the clinical features of synovial sarcoma

A
  • Age: young adults, median 30yrs
  • Gender: M>F
  • Presentation: mass +/- pain in lower extremities (knee/thigh, foot/ankle), upper extremities (forearm/upper arm), trunk, head and neck (neck, larynx, parotid)
77
Q

List 3 subtypes of synovial sarcoma, and describe features of biphasic on light microscopy.

A
  • 3 subtypes of synovial sarcoma: biphasic, monophasic spindled, poorly differentiated (can have rhabdoid/high-grade fibrosarcoma pattern)
  • Classifcal biphasic: neoplastic spindle cells and epithelial cells.

Spindle cells: hyperchromatic, ovoid, uniform arranged in sheets/fascicles +/- hemangiopericytomatous pattern

Epithelial cells: well-formed glandular structures lined by cuboidal/columna epithelium with PAS+ secretions

Stroma: collagen/myxoid/calcs. or ossification. Mast cells comon. Mitoses and necrosis variable. May be cystic.

78
Q

List the IHC markers expected to be positive in synovial sarcoma and the cytogenetic abnormality.

A
  • Cytokeratins (AE1/AE3), EMA, vimentin, TLE-1
  • other non-specific markers: CD99, BCL2, Calretinin, CD56
  • cytogenetics: t (x;18) resulting in SYT-SSX fusion
79
Q

What is the classification of rhabdomyosaroma, and what are the most common locations/cytogenetics?

A

_Classification: _

Embryonal

  • spindle cell, botryoid, anaplastic. IN head and neck/genitourinary. NO consistent abnormalities.

Alveolar: extremities, paraspinal, paranasal, perineal. T (2;13) PAX3/FKHR or T (1;13) PAX7/FKHR

Pleomorphic: deep soft tissues, no recurrent abnormalities

80
Q

List 4 prognostic factors in children with rhabdomyosarcoma

A
  • Histologic classification : embryonal best
  • Age: younger is better
  • Stage
  • Site of origin: orbital/paratesticular better, extremity and parameningeal worse
  • For alveolar: PAX3/FKHR is worse than PAX7
81
Q

What features is common to tumors in the PEComa group?

A
  • Presence of an HMB-45+ smooth-muscle like element
82
Q

List 3 specific entities in the PEComa group

A
  • Angiomyolipoma
  • Retroperitoneal lymphangiomyoma
  • Clear cell sugar tumor of lung
  • Pulmonary lymphangioleiomyomatosis
  • Pecoma of uterus
83
Q

What type of PEComa is most commonly found in the kidney? Describe the inherited condition associated with this lesion. What elements are seen histologically. What features suggest malignancy?

A
  1. Angiomyolipoma is most common in kidney
  2. 3 elements are lipomatous, vascular and smooth-muscle like cells which are HMB45+
  3. Associated condition: tuberus sclerosis, 20% of AMLs occur in TSC, AD condition. ALso have pulmonary lymphangioleiyomyomatosis, cardiac rhabdomyomas, subependymal astrocytic nodules, angiofibromas.
  4. Features suggesting malignancy: size >5cm, coagulative necrosis, mitoses >1/50 HPF
84
Q

List 2 gross features of DFSP

A
  • Early lesion is plaque-like, indurated and pigmented
  • May form sharply circumscribed pigmented nodule on skin or in dermis
  • Firm, fibrous, grey-white on sectionning
85
Q

List the histologic features of DFSP

A
  • Involves dermis and extends to subcutaneous adipose tissue
  • Shows infiltrative “string of perls” into fat
  • Does not show epidermal hyperplasia
  • Shows uniform fibroblasts arranged in tight storiform pattern
  • Lacks significant atypia, necrosis, mitotic rate and foam cells
  • may show collagen trapping, myxoid change or vascular proliferation
86
Q

What IHC stain can differentiate DFSP from dermatofibroma?

A
  • Dermatofibroma: Factor XIIIa+, negative for CD34
  • DFSP: +++ for CD34, negative for Factor XIIIa
87
Q

What is the prognosis for a patient with DFSP?

A
  • Low-grade sar coma
  • excellent if completely excised
  • high local recurrence rate
  • rarely can transform into fibrosarcoma, with attending risk of metastasis.
88
Q

What is the differential diagnosis of myxoid tumors of soft tissue?

A
  • Benign: myxoma, neurofibroma, schwannoma
  • Intermediate: aggressive angiomyxoma, ossifying fibromyxoid tumor
  • Malignant; low-grade fibromyxoid sarcoma, myxofibrosarcoma (MFH), myxoid MPNST, myxoid liposarcoma, leiomyosarcoma
89
Q

List 3 clinical parameters helpful in distinguishing benign from malignant soft sisue tumors

A
  • Rate of growth, tumor size >5cm, depth (above vs below fascia)
90
Q

List 3 histologic features helpful in distinguishing benign from malignant myxoid tumors

A
  • Mitotic activity (atypical mitoses)
  • Presence of cytologic atypia
  • Vascularity
  • Infiltrative border
91
Q

Define ischemic fasciitis and give the typical clinical presentation

A
  • Ischemic fasciitis is a pseudoneoplastic, reactive fibroblatic proliferation related to age and ischemic conditions
  • Typical clinical presenation is in elderly, bedridden individuals. Predilection for soft tissue overlying bony prominences. Skin overlying lesion is hyperemic.
92
Q

How can you distinguish ischemic fasciits from soft tissue sarcoma on histology?

A

Ischemic fascitis: can have central fibrinous cavity surrounded by capillaries, mild cytologic atypia, low mitotic rate, zones of arcade-like capillaries

Sarcoma: coagulative tumor necrosis, moderate-marked cytologic atypia, moderate mitotic rate with atypical mitoses.

93
Q

What etiologic factor is implicated in Kaposi sarcoma?

A

HHV8

94
Q

List 4 clinical/epidemiologic types of Kaposi sarcoma describing lesion location and prognosis

A
  1. Classic: elderly eastern European/Mediterranean men, skin of lower legs, indolent
  2. Endemic: children in equatorial Africa, skin of extremities or viscera, indolent in adulst and aggressive in children
  3. Iatrogenic: immunosuppressed, skin of lower legs/viscera, unpredictable course
  4. AIDS: HIV associated, widespread including face, lower extremities, genitalia, viscera, aggressive
95
Q

Vasclar lesions: List 3 benign, intermediate and malignant lesions

A

Benign: hemangioma, epithelioid hemangioma, lymphangioma

Intermediate: composite hemangioendothelioma, papillary intralymphatic angioendothelioma, retiform hemangioendothelioma

Malignant: epithelioid hemangioendothelioma, angiosaroma, Kaposi sarcoma

96
Q

What is the characteristic EM finding for alveolar soft part sarcoma?

A
  • Rhomboid crystals
97
Q

What is the typical EM finding for Ewing sarcoma?

A
  • Prominent pools of cytoplasmic glycogen
98
Q

What is the typical EM finding in granular cell tumors?

A
  • lysosomes
99
Q

What is the typical EM finding in Kaposi sarcoma?

A

Vascular channels

100
Q

What are the EM findings in vascular tumors?

A
  • WEibel-Palade bodies
  • BUndles of intermediate filaments, tight and primitive junctions
  • Pinocytic vesicles
101
Q

What are the typical EM findings in the following tumors: leiyomyosarcoma, rhadomyosarcoma, schwannoma

A

Leiyomyosarcoma/smooth muscle tumors: Myofilaments, actin microfilaments, interspermed fusiform dense bodies

Rhabdomyosarcoma: actin (6nm), myosin (15nm) filaments in parallel arrays. Sarcomeres, glycogen, primitive cell junctions, external lamina

Schwannoma: complex entangled long-cell processes, intermediate filaments, microtubules, long-spacing collagen

Bone and Soft tissue (1 decks)

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