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MSK II Robbins Notes > Ch 26 - Bones, Joints, Soft Tissue > Flashcards

Ch 26 - Bones, Joints, Soft Tissue Flashcards

1
Q

What are the swan-neck and boutonnière deformities seen in rheumatoid arthritis?

A

Swan-neck - PIP extension + DIP flexion

Boutonnière - PIP flexion + DIP extension

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2
Q

Most common benign bone tumor

A

Osteochondroma (exostosis)

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3
Q

Deviation (radial/ulnar) seen in wrist and fingers in rheumatoid arthritis

A

Radial - wRist

ulNar - fiNgers

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4
Q

Treatment of giant cell tumor (osteoclastoma)

A

Curettage

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5
Q

Uterine leiomyomas + renal cell carcinoma = __________

A

Fumarate hydratase enzyme deficiency

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6
Q

Mutation in myxoid liposarcoma

A

t(12;16) - chromosome 12q (MDM2 gene - potent inhibitor of p53)

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7
Q

How to diagnose osteoporosis

A

DEXA scan

No labs can diagnose

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8
Q

Central fibrinoid necrosis surrounded by palisading epithelioid histiocytes
Arise in skin (ulnar aspect of forearm) and visceral organs

A

Rheumatoid nodules

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9
Q

Most likely malignant bone tumor in adults vs kids

A

Adults - chondrosarcoma

Kids - osteosarcoma

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10
Q

Sporadic forms of this tumor exhibit decreased EXT1 and EXT2

A

Osteochondroma

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11
Q

In ankylosis spondylitis, 90% are positive and very sensitive for ______

A

HLA-B27

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12
Q

Most common mesenchymal neoplasm of the hand

A

Tenosynovial giant cell tumor

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13
Q

Monostotic (involvement of single bone) fibrous dysplasia appearance on radiograph

A

Ground glass appearance with well defined margins

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14
Q

Mutation and inheritance of achondroplasia

A

Gain of function in FGFR3

Autosomal dominant

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15
Q

Largest category of adult sarcomas

A

Undifferentiated pleomorphic sarcoma (UPS)

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16
Q

Ends of long bones are bulbous (Erlenmeyer flask deformity) in what disease?

A

Osteopetrosis

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17
Q

Most adult _______ have complex karyotypes, tend to be pleomorphic, and are genetically heterogenous with a poor prognosis

A

Sarcomas

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18
Q

Small, round blue cells with scant cytoplasm is seen in _______

A

Ewing sarcoma

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19
Q

Most common soft tissue sarcoma of childhood/adolescence

A

Rhabdomyosarcoma (alveolar and embryonal)

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20
Q

Baker cyst is a synovial cyst (herniation of synovium through joint capsule) seen in what body region and disease?

A

Popliteal space

Rheumatoid arthritis

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21
Q

Mutations in rheumatoid arthritis

A

HLA-DRB1 - shared epitope
PTPN22 gene
HLA-DR4

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22
Q

Generalized osteitis fibrosa cystica (von Recklinghausen disease of bone) seen in what broader disease?

A

Hyperparathyroidism

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23
Q

Deficiency seen is osteopetrosis

A

Carbonic anhydrase 2 (CA2) deficiency

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24
Q

Most common neoplasm in females

A

Uterine leiomyoma

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25
Q

_________ seropositivity is more common in juvenile idiopathic arthritis (JIA) than in rheumatoid arthritis

A

Antinuclear antibody

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26
Q

Most common inherited disorder of connective tissue

A

Osteogenesis imperfecta (brittle bone disease)

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27
Q

Mass of edematous synovium, inflammatory cells, granulation tissue, and fibroblasts that grows over articular cartilage and causes erosion.
What disease is this seen in?

A

Pannus

Rheumatoid arthritis

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28
Q

All bone-forming tumors produce __________ or _________

A

Unmineralized osteoid matrix or mineralized woven bone

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29
Q

Inheritance of type I vs type II osteogenesis imperfecta

A

Type I - autosomal dominant

Type II - mostly autosomal recessive (but can be autosomal dominant/new mutations)

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30
Q

Component of bone matrix (extracellular component of bone) that is always abnormal in adults

A

Woven bone

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31
Q

Metastatic tumors to bone may appear as lytic (bone destroying) or blastic (bone forming). What tumor is predominantly blastic?

A

Prostatic adenocarcinoma

32
Q

Variant of embryonal rhabdomyosarcoma with the best outcome of all subtypes

A

Sarcoma botryoides

33
Q

Ollier disease and Maffucci syndrome are associated with what bone tumor?

A

Chondroma

34
Q

Osteogenesis imperfecta - type I or II collagen disease?

A

Type 1

35
Q

Codman triangle (triangular shadow between cortex and raised end of periosteum) is characteristic but not diagnostic of what bone tumor?

A

Osteosarcoma

36
Q

Group of diseases associated with HLA-B27

A

Seronegative spondyloarthropathies

37
Q

Mutation in nodular fasciitis

A

t(22;17)

38
Q

Germline loss of function of EXT1 or EXT2 and loss of remaining wild type chondrocytes of the growth plate is seen in _______

A

Multiple Hereditary Exostosis Syndrome

39
Q

Mutations in osteogenesis imperfecta

A

Mutations of COL1A1 and COL1A2 (α1 and α2 chains of type I collagen)

40
Q

Rank - transmembrane receptor activator for NFκB expressed on _______ precursors

A

Osteoclast

41
Q

Frequency of fibrous cortical defect (metaphysical fibrous defects)

A

Extremely common, seen in 30-50% of children > 2

42
Q

Hyperparathyroidism leads to significant skeletal changes related to unabated ________ activity

A

Osteoclast

43
Q

Osteitis deformans (Paget disease of bone) hallmark morphology (seen in sclerotic phase)

A

Mosaic pattern of woven and lamellar bone

44
Q

Most common skeletal dysplasia

A

Achondroplasia

45
Q

Mutation seen in Ewing Sarcoma

A

t(11;22)(q24;q12) -> EWS-FLI1 (in-frame fusion of EWS gene on chromosome 22 to FL1 gene on chromosome 11)

46
Q

Disease defined by decreased bone resorption with diffuse symmetric skeletal sclerosis due to impaired formation/function of osteoclasts

A

Osteopetrosis

47
Q

Type of ossification responsible for development of long bones
Affected in achondroplasia (if so what mutation)?

A

Endochondral ossification

Defective in achondroplasia, activation mutations in FGFR3

48
Q

Tumor presenting with severe nocturnal pain due to osteoblast production of PGE2 and is relieved by aspirin

A

Osteoid osteoma

49
Q

Disease with increased serum ALK phosphatase (most common cause of isolated elevated ALP)

A

Paget disease of bone (osteitis deformans)

50
Q

In reactive arthritis (Reuter syndrome), 80% are positive for HLA-B27.
What will be seen in a joint tap?

A

Sterile synovial fluid (no bacteria in joint space)

51
Q

Frequency of liposarcoma

A

One of the most common sarcomas of adulthood

52
Q

Synovitis + pannus defines _____

A

Rheumatoid arthritis

53
Q

McCune Albright is a polyostotic disease associated with cafe-au-lait skin pigmentations and endocrine abnormalities, especially precocious puberty and is due to GNAS mutation in embryogenesis. It is seen in ______

A

Fibrous dysplasia

54
Q

Joint disease presenting with morning joint stiffness and pain that worsens with use

A

Osteoarthritis

55
Q

Tumor with:
FOXO1 fusion to PAX3 or PAX7
t(2;13) or t(1;13)

A

Alveolar rhabdomyosarcoma

56
Q

Most common overall cause of infectious arthritis

A

Staphylococcus aureus

57
Q

Most common form of skeletal malignancy

A

Metastatic tumors to bone

58
Q

RB (70% of sporadic) increases risk of this bone tumor 1000 fold

A

Osteosarcoma

59
Q

Most common types of osteoporosis

A

Senile

Postmenopausal

60
Q

Benign tumor likened to localized developmental arrest

All components of bone present but don’t differentiate into mature structures

A

Fibrous dysplasia

61
Q

t(x;18) -> SS18 - SSX1/SSX2/SSX4 seen in ______

A

Synovial sarcoma

62
Q

Which digits does superficial fibromatosis affect?

A

4th and 5th digits of the hand

63
Q

IDH1 and IDH2 mutations seen in _______

A

Chondroma

64
Q

Amplification of 12q13-q15 seen in ______

A

Well-differentiated liposarcoma

65
Q

Most common soft tissue tumor of adult hood

A

Lipoma

66
Q

Many autoantibodies in rheumatoid arthritis are specific for ________

A

Citrullinated peptides (CCPs)

67
Q

Which sarcoma is positive for epithelial markers (e.g. keratins), distinguishing it form most other sarcomas

A

Synovial sarcoma

68
Q

McCune Albright syndrome is a polyostotic disease

What is the mutation and most common clinical presentation?

A

GNAS1 mutation

Precocious puberty

69
Q

Rare complication of polyostotic (involvement of multiple bones) fibrous dysplasia

A

Malignant transformation of lesion into sarcoma

70
Q

HLA-B27 and HLA-Cw6 confer susceptibility for ____

Presents with DIP involvement -> “pencil in cup” deformity

A

Psoriatic arthritis

71
Q

Most common type of joint disease

A

Osteoarthritis (degenerative joint disease)

72
Q

RANKL - expressed on _______ and marrow stromal cells

A

Osteoblasts

73
Q

In gout, purine/pyrimidine anabolism/catabolism -> uric acid

A

Purine catabolism

74
Q

Pathognomonic lesion of gout described by masses of urates surrounded by intense mononuclear inflammation with foreign body giant cells
Appear as white, chalky deposits

A

Tophi

75
Q

Type of ossification responsible for development of flat bones and facial bones
Affected in achondroplasia (if so what mutation)?

A

Intramembranous ossification

Unaffected in achondroplasia

MSK II Robbins Notes (3 decks)

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