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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
Subtype of liposarcoma that is very low grade, local control is main issue
Well-differentiated Liposarcoma / atypical lipomatous tumor
26
Applification of this p53 inhibitor is seen in Well-differentiated Liposarcoma / atypical lipomatous tumor
MDM2
27
t(12;16) causes this condition
Myxoid liposarcoma
28
Translocation that causes Myxoid liposarcoma
t(12;16)
29
Subtype of Liposarcoma that is intermediate grade
Myxoid liposarcoma
30
Subtype of Liposarcoma that is high grade with complicated genetics
Pleomorphic sarcoma
31
Unencapsulated or poorly circumscribed tissue with deep or retroperitoneal location could be this condition
Liposarcoma
32
Does Liposarcoma have lipoblasts?
Yes
33
Immature fat cells with nuclei that are irregular and dark, and nuclei often indented by fat vacuoles, are morphologically seen in this condition
Liposarcoma
34
Locally infiltrative benign fibrous proliferation with indolent behavior
Superficial Fibromatosis
35
Very slow growing proliferation that affects superficial subcutaneous tissues, often distorts local tissue, but never metastasizes
Superficial Fibromatosis
36
Name for Palmar Fibromatosis
Dupuytren contracture
37
Name for Plantar fibromatosis
Ledderhose disease
38
Name for Penile fibromatosis
Peyronie disease
39
What is Dupuytren contracture?
Palmar fibromatosis
40
What is Ledderhose disease?
Plantar fibromatosis
41
What is Peyronie disease?
Penile fibromatosis
42
Dupuytren contracture affects these fingers
4th and 5th Begins with palmar skin dimpling, progresses to flexure contractures of MCP and PIP joints
43
Proliferation with multinodular growth over years Frequent recurrence Cells contract, causing tissue distortion
Superficial fibromatosis
44
Condition characterized by tissue distortion due to cells contracting
Superficial fibromatosis
45
Fascicles of fibroblasts with collagen are seen morphologically in this slow growing condition
Superficial fibromatosis
46
This is also called Desmoid tumor or aggresive fibromatosis
Deep fibromatosis
47
Type of Deep fibromatosis that occurs around shoulder and pelvic muscles most commonly
Extra-abdominal
48
IHC marker for extra-abdominal Deep fibromatosis
Beta-catenin
49
Beta-catenin is an IHC marker for this condition
Extra-abdominal Deep fibromatosis
50
Beta-catenin is an IHC marker for this type of deep fibromatosis
Extra-abdominal
51
Type of Deep fibromatosis seen in young gravid or postpartum women
Abdominal
52
Type of Deep fibromatosis that is hormonally responsible, some respond to tamoxifen
Abdominal
53
Abdominal Deep fibromatosis may respond to this drug
Tamoxifen
54
This is also called mesenteric fibromatosis
Intra-abdominal Deep fibromatosis
55
Type of Deep fibromatosis associated with Familial Adenomatous Polyposis (includes Gardner syndrome)
Intra-abdominal
56
Hereditary cancer syndrome due to APC gene loss
Familial Adenomatous Polyposis
57
Subtype of Familial Adenomatous Polyposis with extra-intestinal tumors Desmoids, osteomas of mandible and skull, retinal pigment hypertrophy
Gardner syndrome
58
Gardner syndrome is a subtype of this
Familial Adenomatous Polyposis
59
Fascicles of fibroblasts and collagen, with infiltrative growth, are seen morphologically in this condition
Deep Fibromatosis
60
Malignant tumor of skeletal muscle
Rhabdomyosarcoma
61
All forms of this proliferation are desmin positive by IHC (myogenin, actin, etc.)
Rhabdomyosarcoma
62
3 common sites of pediatric Rhabdomyosarcoma
Gentiourinary sites Head and neck (sinuses especially)
63
Lobulated polypoid mass that has grown into a hollow space (e.g. vaginal, sinuses) is seen in this condition in pediatrics
Embryonal Rhabdomyosarcoma (Sarcoma botryoides)
64
A mass with a grape-like appearance that resides in hollow spaces (e.g. vaginal, sinuses) is characteristic of this condition
Embryonal Rhabdomyosarcoma aka Sarcoma Botryoides
65
Sarcoma Botryoides is also known as this tumor
Embryonal Rhabdomyosarcoma
66
Small blue cell tumor with occasional striated cells ("strap cells")
Embryonal Rhabdomyosarcoma
67
2 translocations that may cause Alveolar Rhabdomyosarcoma
t(1;13) or t(2;13)
68
t(1;13) or t(2;13) translocations occur in Alveolar Rhabdomyosarcoma and cause this gene promotion
FOXO1
69
FOXO1 gene promotion occurs in this tumor
Alveolar Rhabdomyosarcoma
70
Small soft tissue cyst associated with joint space
Ganglion cyst
71
Does a ganglion cyst have epithelial lining?
No
72
Tissue filled with mucinous/myxoid material that may not show communication with synovium, may result from soft tissue degeneration, and may produce nerve compression
Ganglion cyst
73
Synovial/ganglion cyst in popliteal space
Baker cyst
74
This is also called cystic popliteal bursa
Baker cyst
75
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
Baker cyst
76
Baker cyst is seen in association with injury, such as in these two circumstances
Medial meniscus tears Rheumatoid arthritis
77
This type of Tenosynovial GCT is called pigmented villonodular synovitis (PVNS)
Diffuse Tenosynovial giant cell tumor
78
Most diffuse Tenosynovial giant cell tumors occur in this part of the body
Knee
79
Tumor that is benign but locally aggressive, possibly causing bone erosion and soft tissue invasion Causes pain, swelling, decreased ROM, hemarthrosis
Diffuse Tenosynovial giant cell tumor
80
Variant of Tenosynovial giant cell tumor that is slow growing and painless
Localized
81
Translocation seen in Tenosynovial giant cell tumor
t(1;2) (p13;q37)
82
t(1;2) (p13;q37) translocation causes this tumor
Tenosynovial giant cell tumor
83
Form of Tenosynovial giant cell tumor that grows as multinodular mass in tendon
Localized
84
Form of Tenosynovial giant cell tumor that grows as papillary mass in joint space
Diffuse
85
Mononuclear cells and multinucleated cells, with foam cells and hemosiderin laden macrophages can be seen morphologically in this tumor
Tenosynovial giant cell tumor
86
Pigment of diffuse Tenosynovial giant cell tumor (aka pigmented villonodular synovitis) that can be seen in macrophages
Hemosiderin
87
Inflammation of bursa Mostly due to overuse, trauma, or adjacent inflammation (RA, gout, OA)
Bursitis
88
Bursitis is associated with these 3 conditions
Rheumatoid arthritis Gout Osteoarthritis
89
Lesion associated with localized pain with motion, swelling, and fluctuance Common locations include prepatellar, olecranon, subacromial
Bursitis

Skin & MSK (20 decks)

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