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Endocrine- MHD > Bone Pathology II > Flashcards

Bone Pathology II Flashcards

1
Q

Osteogenesis imperfecta is also known as what?

A

Brittle Bone disease

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2
Q

What is the etiology of OI?

A

Defect in type I collagen –> inability to form triple helix

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3
Q

What happens to the bone in OI?

A

They brake so many times –> accordion- like collapse on themselves/shortening of limbs

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4
Q

Describe the teeth and eyes of someone with OI

A

Eyes- blue sclera

Teeth- small and misshapen

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5
Q

What is the most common form of dwarfism?

A

Achondroplasia

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6
Q

What is the etiology of achondroplasia?

A

Gain of function mutation in FGFR3 (signal transduction system in the growth plate)

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7
Q

What is the normal role of FGFR3?

A

Inhibition of cartilage proliferation

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8
Q

Describe the FGFR3 mutation

A

Activating mutation –> inhibition of chondrocyte differentiation and proliferation at the growth plate –> retards growth plate development

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9
Q

What is the inheritance pattern of achondroplasia?

A

AD

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10
Q

Why is the head enlarged in someone with achondroplasia?

A

Skull bone forms by intramembranous bone growth- only bones that form by endochondral calcification are affected

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11
Q

What is the prognosis of thanatophoric dwarfism?

A

Perinatal death. Underdeveloped thorax –> respiratory deficiency and death

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12
Q

What causes bone death?

A

Ischemia

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13
Q

What bone in the body is particularly susceptible to osteonecrosis?

A

The mandible/jaw- particularly in the presence of high-dose bisphosphonates

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14
Q

What are the three phases of Paget’s disease?

A

1) Osteoclast over activity
2) Osteoblast activity
3) Sclerosis

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15
Q

How common are primary bone neoplasms?

A

Uncommon, children > adults

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16
Q

Most primary bone tumors form from which cell type?

A

Hematopoietic

They form in the medullary sinus from hematopoietic cells

17
Q

What is an osteoid osteoma?

A

Benign “nidus” of osseous tissue surrounded by a halo of reactive bone formation

Reactive bone is not tumor- it is in response to the tumor

18
Q

How do osteoid osteomas present?

A

In men with PAIN (usually at night) and it is relieved by aspirin

These tumors produce prostaglandin E2

19
Q

What is an osteosarcoma?

A

Most common Malignant Primary tumor of bone-

Presents in the medullary cavity in the metaphysis and they favor the long bones

20
Q

What is codman’s triangle?

A

Triangular shadow between cortex and raised ends of periosteum-

The tumor has broken through and lifted the periosteum which leads to reactive bone formation

21
Q

What are the characteristic genetic mutations associated with osteosarcomas?

A

Rb

p53 (Li-Fraumeni syndrome)

22
Q

What the prognosis of an osteosarcoma?

A

They are aggressive with hematologic mets to the lungs

5 year survival is up to 70% with no mets, and 20% if there are overt metastasis or it is a sequelae of Paget’s disease

23
Q

What is an osteochondroma?

A

Benign bone tumor characterized by a stalk of well-differentiated hyaline cartilage

24
Q

What is another name for osteochondroma?

A

Exostosis

25
Q

What are the gene mutations associated with Multiple Hereditary Exostosis Syndrome?

A

LOF mutations in EXT1 and EXT2

26
Q

Where do chondrosarcomas most often form?

A

Central portion of skeleton- pelvis, ribs, shoulder

27
Q

Name two tumors where “Grade” is very important for prognosis (as opposed to stage of tumor)

A

Gleason’s tumor- prostate cancer

Condrosarcoma

28
Q

Name 4 primary tumors that readily metastasize to the bone

A

Prostate, breast, lung, kidney

29
Q

Name three adolescent tumors that regularly metastasize to the bone

A

Neuroblastoma, Wilm’s, rhabdomyosarcoma

30
Q

Why do some mets to the bone appear lytic?

A

The tumors produce PTH-like hormones that activate osteoclast resorption of bone

31
Q

What protein stimulates osteoblastic bone formation?

A

WNT protein –> blastic bone appearance and a sclerotic response to metastasis to the bone

32
Q

Which metastasis to the bone cause lytic bone mets?

A

BLTKM- (Bacon, lettuce, tomato with ketchup and mustard)

Breast, lung, thyroid, kidney and multiple myeloma

33
Q

Which bone met appears as blastic metastasis

A

Prostate

34
Q

What is another name for neuroectodermal tumor (PNETS)

A

Ewing Sarcoma

35
Q

What is the chromosomal abnormality associated with Ewing sarcoma?

A

t(11;22)(q24;q12)

Results in a gene fusion of EWS/FLI-1 –> protein that functions as a transcription factor

Endocrine- MHD (17 decks)

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