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Skin & MSK > Soft tissue pathology > Flashcards

Soft tissue pathology Flashcards

1
Q

Syndrome with p53 loss of function
Can cause sarcomas

A

Li Fraumeni Syndrome

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2
Q

Li Fraumeni Syndrome is a loss of function of this protein

A

p53

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3
Q

Condition with a mutated APC, causing intestinal polyps and carcinoma, intra-abdominal fibromatosis, and osteomas

A

Gardner syndrome

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4
Q

This is mutated in Gardner syndrome

A

APC

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5
Q

NF1 gene is on this chromosome

A

17

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6
Q

Mutated NF1 gene in Neurofibromatosis affects this protein of the RAS pathway

A

GAP

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7
Q

Cafe au lait spots can be seen in this condition associated with soft tissue tumors

A

Neurofibromatosis 1

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8
Q

Condition due to autosomal dominant mutations in TGF-beta pathway of endothelial cells

A

Osler-Weber-Rendu syndrome

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9
Q

Inheritance pattern of Osler-Weber-Rendu syndrome

A

Autosomal dominant

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10
Q

Osler-Weber-Rendu syndrome is due to mutations in this pathway of endothelial cells

A

TGF-beta

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11
Q

Condition that is also known as Hereditary hemorrhagic telangiectasia

A

Osler-Weber-Rendu syndrome

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12
Q

Condition associated with soft tissue pathology that presents with congenital mucosal and skin telangiectasias, often with mucosal bleeding

A

Osler-Weber-Rendu syndrome

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13
Q

Condition caused by autosomal dominant mutation in TSC1 or TSC2 gene

A

Tuberous sclerosis

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14
Q

Inheritance pattern of Tuberous sclerosis

A

Autosomal dominant

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15
Q

Gene affected in Tuberous sclerosis

A

TSC1 or TSC2

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16
Q

Renal angiomyolipoma, pulmonary lymphangioleiomyomatosis, and cardiac rhabdomyomas can occur with this condition

A

Tuberous sclerosis

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17
Q

Benign tumor of adipose

A

Lipoma

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18
Q

Lipoma affects this layer of skin tissue

A

Subcutaneous

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19
Q

Word that describes having multiple Lipomas

A

Lipomatosis

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20
Q

Are there lipoblasts seen in a lipoma?

A

No

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21
Q

Condition where encapsulated mature adipose tissue of subcutaneous tissue is seen morphologically

A

Lipoma

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22
Q

Malignant tumor of adipose

A

Liposarcoma

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23
Q

Peak age of Liposarcoma

A

50’s, 60’s

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24
Q

Subtype of lyposarcoma caused by an MDM2 amplification (inhibits p53)

A

Well-differentiated Liposarcoma / atypical lipomatous tumor

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25
Q

Subtype of liposarcoma that is very low grade, local control is main issue

A

Well-differentiated Liposarcoma / atypical lipomatous tumor

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26
Q

Applification of this p53 inhibitor is seen in Well-differentiated Liposarcoma / atypical lipomatous tumor

A

MDM2

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27
Q

t(12;16) causes this condition

A

Myxoid liposarcoma

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28
Q

Translocation that causes Myxoid liposarcoma

A

t(12;16)

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29
Q

Subtype of Liposarcoma that is intermediate grade

A

Myxoid liposarcoma

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30
Q

Subtype of Liposarcoma that is high grade with complicated genetics

A

Pleomorphic sarcoma

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31
Q

Unencapsulated or poorly circumscribed tissue with deep or retroperitoneal location could be this condition

A

Liposarcoma

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32
Q

Does Liposarcoma have lipoblasts?

A

Yes

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33
Q

Immature fat cells with nuclei that are irregular and dark, and nuclei often indented by fat vacuoles, are morphologically seen in this condition

A

Liposarcoma

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34
Q

Locally infiltrative benign fibrous proliferation with indolent behavior

A

Superficial Fibromatosis

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35
Q

Very slow growing proliferation that affects superficial subcutaneous tissues, often distorts local tissue, but never metastasizes

A

Superficial Fibromatosis

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36
Q

Name for Palmar Fibromatosis

A

Dupuytren contracture

37
Q

Name for Plantar fibromatosis

A

Ledderhose disease

38
Q

Name for Penile fibromatosis

A

Peyronie disease

39
Q

What is Dupuytren contracture?

A

Palmar fibromatosis

40
Q

What is Ledderhose disease?

A

Plantar fibromatosis

41
Q

What is Peyronie disease?

A

Penile fibromatosis

42
Q

Dupuytren contracture affects these fingers

A

4th and 5th
Begins with palmar skin dimpling, progresses to flexure contractures of MCP and PIP joints

43
Q

Proliferation with multinodular growth over years
Frequent recurrence
Cells contract, causing tissue distortion

A

Superficial fibromatosis

44
Q

Condition characterized by tissue distortion due to cells contracting

A

Superficial fibromatosis

45
Q

Fascicles of fibroblasts with collagen are seen morphologically in this slow growing condition

A

Superficial fibromatosis

46
Q

This is also called Desmoid tumor or aggresive fibromatosis

A

Deep fibromatosis

47
Q

Type of Deep fibromatosis that occurs around shoulder and pelvic muscles most commonly

A

Extra-abdominal

48
Q

IHC marker for extra-abdominal Deep fibromatosis

A

Beta-catenin

49
Q

Beta-catenin is an IHC marker for this condition

A

Extra-abdominal Deep fibromatosis

50
Q

Beta-catenin is an IHC marker for this type of deep fibromatosis

A

Extra-abdominal

51
Q

Type of Deep fibromatosis seen in young gravid or postpartum women

52
Q

Type of Deep fibromatosis that is hormonally responsible, some respond to tamoxifen

53
Q

Abdominal Deep fibromatosis may respond to this drug

54
Q

This is also called mesenteric fibromatosis

A

Intra-abdominal Deep fibromatosis

55
Q

Type of Deep fibromatosis associated with Familial Adenomatous Polyposis (includes Gardner syndrome)

A

Intra-abdominal

56
Q

Hereditary cancer syndrome due to APC gene loss

A

Familial Adenomatous Polyposis

57
Q

Subtype of Familial Adenomatous Polyposis with extra-intestinal tumors
Desmoids, osteomas of mandible and skull, retinal pigment hypertrophy

A

Gardner syndrome

58
Q

Gardner syndrome is a subtype of this

A

Familial Adenomatous Polyposis

59
Q

Fascicles of fibroblasts and collagen, with infiltrative growth, are seen morphologically in this condition

A

Deep Fibromatosis

60
Q

Malignant tumor of skeletal muscle

A

Rhabdomyosarcoma

61
Q

All forms of this proliferation are desmin positive by IHC (myogenin, actin, etc.)

A

Rhabdomyosarcoma

62
Q

3 common sites of pediatric Rhabdomyosarcoma

A

Gentiourinary sites
Head and neck (sinuses especially)

63
Q

Lobulated polypoid mass that has grown into a hollow space (e.g. vaginal, sinuses) is seen in this condition in pediatrics

A

Embryonal Rhabdomyosarcoma
(Sarcoma botryoides)

64
Q

A mass with a grape-like appearance that resides in hollow spaces (e.g. vaginal, sinuses) is characteristic of this condition

A

Embryonal Rhabdomyosarcoma
aka Sarcoma Botryoides

65
Q

Sarcoma Botryoides is also known as this tumor

A

Embryonal Rhabdomyosarcoma

66
Q

Small blue cell tumor with occasional striated cells (“strap cells”)

A

Embryonal Rhabdomyosarcoma

67
Q

2 translocations that may cause Alveolar Rhabdomyosarcoma

A

t(1;13) or t(2;13)

68
Q

t(1;13) or t(2;13) translocations occur in Alveolar Rhabdomyosarcoma and cause this gene promotion

69
Q

FOXO1 gene promotion occurs in this tumor

A

Alveolar Rhabdomyosarcoma

70
Q

Small soft tissue cyst associated with joint space

A

Ganglion cyst

71
Q

Does a ganglion cyst have epithelial lining?

72
Q

Tissue filled with mucinous/myxoid material that may not show communication with synovium, may result from soft tissue degeneration, and may produce nerve compression

A

Ganglion cyst

73
Q

Synovial/ganglion cyst in popliteal space

A

Baker cyst

74
Q

This is also called cystic popliteal bursa

A

Baker cyst

75
Q

This is seen in association with injury, such as medial meniscus tears and rheumatoid arthritis
Is a mass with aching pain, and may compress tibial nerve, causing gastroc atrophy

A

Baker cyst

76
Q

Baker cyst is seen in association with injury, such as in these two circumstances

A

Medial meniscus tears
Rheumatoid arthritis

77
Q

This type of Tenosynovial GCT is called pigmented villonodular synovitis (PVNS)

A

Diffuse Tenosynovial giant cell tumor

78
Q

Most diffuse Tenosynovial giant cell tumors occur in this part of the body

79
Q

Tumor that is benign but locally aggressive, possibly causing bone erosion and soft tissue invasion
Causes pain, swelling, decreased ROM, hemarthrosis

A

Diffuse Tenosynovial giant cell tumor

80
Q

Variant of Tenosynovial giant cell tumor that is slow growing and painless

81
Q

Translocation seen in Tenosynovial giant cell tumor

A

t(1;2) (p13;q37)

82
Q

t(1;2) (p13;q37) translocation causes this tumor

A

Tenosynovial giant cell tumor

83
Q

Form of Tenosynovial giant cell tumor that grows as multinodular mass in tendon

84
Q

Form of Tenosynovial giant cell tumor that grows as papillary mass in joint space

85
Q

Mononuclear cells and multinucleated cells, with foam cells and hemosiderin laden macrophages can be seen morphologically in this tumor

A

Tenosynovial giant cell tumor

86
Q

Pigment of diffuse Tenosynovial giant cell tumor (aka pigmented villonodular synovitis) that can be seen in macrophages

A

Hemosiderin

87
Q

Inflammation of bursa
Mostly due to overuse, trauma, or adjacent inflammation (RA, gout, OA)

88
Q

Bursitis is associated with these 3 conditions

A

Rheumatoid arthritis
Gout
Osteoarthritis

89
Q

Lesion associated with localized pain with motion, swelling, and fluctuance
Common locations include prepatellar, olecranon, subacromial

Skin & MSK (20 decks)

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