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Neville and Damm > Ch 14 Bone - Cram Cards > Flashcards

Ch 14 Bone - Cram Cards Flashcards

1
Q

In 90% of AD cases of OI, which two genes are mutated? What do they code for?

A

COL1A1 or COL1A2 they code for Type 1 collagen

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2
Q

What are the 3 clinical presentations of Osteogenesis Imperfecta?

A
  1. blue sclerae 2. hearing loss 3. joint hyperextensibility / contracture
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3
Q

What are the 4 radiographic hallmarks of Osteogenesis Imperfecta?

A

1.osteopenia 2. bowing of the long bones 3. multiple fractures 4.increased # of Wormian bones in the skull (also seen in CLEIDOCRANIAL DYSPLASIA)

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4
Q

The dental alterations (clinically and radiographically) in Osteogenesis Imperfecta are IDENTICAL to what other entity? Which 2 types of OI specifically?

A

Dentinogenesis Imperfecta.. Types III and IV OI

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5
Q

What do the tooth roots in OI / DI look like?

A

corncob shaped

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6
Q

OI Types: Type I mutated gene?

A

COL1A1

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7
Q

OI Types: Type II-IV mutated gene(s)?

A

COL1A1, COL1A2

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8
Q

What are two other names for Osteopetrosis?

A

Albers-Schonberg Disease, Marble bone disease

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9
Q

What are the three disease subtypes in osteopetrosis?

A

1.AR infantile (malignant) type 2.AR intermediate type 3.AD adult (benign) type

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10
Q

What is the gene responsible for Cleidocranial Dysplasia? (2 names) Where is it found?

A

RUNX2 (CBFA1) on chromosome 6p21

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11
Q

What is the inheritance pattern for cleidocranial dysplasia? What is the proposed % of spontaneous mutations?

A

AD..40%

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12
Q

What condition?: On skull radiographs, the sutures and fontanels show delayed closure or may remain open throughout life.

A

cleidocranial dysplasia

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13
Q

Oral & Maxillofacial features of Cleidocranial Dysplasia: On dental radiographs, what is the MOST DRAMATIC finding?

A

numerous unerupted permanent and supernumerary teeth (up to 60), often exhibiting distorted crown and root shapes (+/- dentigerous cysts)

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14
Q

WHAT SHOULD BE EXCLUDED IF MULTIPLE IDIOPATHIC OSTEOSCLEROSIS LESIONS ARE FOUND?

A

Gardner Syndrome can present with multiple osteomas

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15
Q

What are the 5 goddam names for massive osteolysis?

A
  1. GORHAM DISEASE 2. GORHAM-STOUT SYNDROME 3. VANISHING BONE DISEASE 4.PHANTOM BONE DISEASE 5.IDIOPATHIC OSTEOLYSIS
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16
Q

massive osteolysis: age, location?

A

BROAD range, but predominantly children and young adults…all over body, but most gnathic lesions present in the mandible

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17
Q

What stain is typically postive in massive osteolysis?

A

D2-40 highlighting the lymphatic endothelium

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18
Q

Most common mutations in osteopetrosis

A

RANK and/or RANKL

30% the mutation is unknown

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19
Q

Patients diagnosed with osteogenesis imperfecta have an increased risk of _____ (3)

A

Cardiac malformations
Bleeding disorders
Hyperthermia

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20
Q

Autosomal recessive types of osteogenesis imperfecta are caused by defects in what ? (4)

A

Chaperone defects
Mineralization defects
3-hydroxylation defects (collagen cross-linking)
C-propetide cleavage

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21
Q

Serologies for osteogenesis imperfecta

A

Serologies all normal usually: calcium, alk phos(can be slightly elevated), vit D, phosphorus

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22
Q

Prevalence of osteopetrosis overall

A

1:100,000-500,000

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23
Q

Defects in the ____ channel are implicated in AR infantile osteopetrosis. Defects in the _____ ____ subunit are also implicated.

A

chloride ion channel

proton pump subunit

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24
Q

Prevalence of cleidocranial dysplasia

A

1:1,000,000

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25
Q

Short lower face height aka ___ _____ ____ is seen in patients with cleidocranial dysplasia

A

acute gonial angle

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26
Q

T/F: There is an association between focal osteoporotic marrow defect and hematologic malignancies or anemias

A

False- no association

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27
Q

Prevalence of idiopathic osteosclerosis

A

5%

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28
Q

LETS GET IT: GENETIC mutation for Paget Disease of bone…also, what % of familial cases and what % of sporatic cases have this mutation? what is the mutation effect on severity?

A

germline mutation in the seqestosome 1 gene (SQSTM1) AKA p62..found in 40% of familial cases and 8% of sporatic cases, more severe disease WITH the mutation

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29
Q

Paget disease of bone: What serum test alerts the clinician?

A

alkaline phosphatase

30
Q

Paget disease of bone: Generally the teeth can present with what anomaly?

A

hypercementosis

31
Q

Paget disease of bone can closely resemble WHAT other entitiy and thus a pt with this entity should be further evaluated to r/o Paget

A

CEMENTO-OSSEUS DYSPLASIA

32
Q

Paget disease of bone: Histologic BUZZWORD for pattern of bone

A

JIGSAW PUZZLE or MOSAIC (Basophilic reversal lines, which indicate the junction between alternating bone resorption and formation)

33
Q

CGCG: age, gender, location

A

broad but 60% of cases below age 30, female, 70% in the mandible (ANTERIOR and CROSS THE MIDLINE)

34
Q

CGCG: Areas histopathologically identical to central giant cell granuloma have been noted in _________ and intermixed with _________.

A

aneurysmal bone cysts…central odontogenic fibromas

35
Q

Multifocal giant cell lesions of the jaws may occur rarely as an isolated finding or in association with certain heritable conditions..name them (4)

A

1.Cherubism 2.Noonan-like/multiple giant cell lesion syndrome 3.Jaffe-Campanacci syndrome 4.Neurofibromatosis Type 1

36
Q

CGCG: there has been a WIDE range of recurrence rates reported (11-49%), but whats the settled upon #?

37
Q

Cherubism: MOST cases are caused by WHAT TYPE of genetic mutation? WHAT GENE? Which chromosome?

A

Gain-of-function mutation…SH3BP2 gene on Chromosome 4p16

38
Q

What may arise in conjunction with a simple bone cyst? What age and gender demographic is this most likely?

A

cemento-osseous dysplasia…older females

39
Q

GENETICS for aneurysmal bone cysts indicate it is a neoplastic process…what gene is involved? Chromosome?

A

Ubuiquitin-specific protease 6 (USP6) (or Tre-2/TRE17)…Chromosome 7p13

40
Q

What is the distinguishing genetic factor in fibrous dysplasia, thus separating it from OF or COD?

A

mutations in the GNAS gene

41
Q

Fibrous dysplasia: This SPORADIC condition results from _______, activating mutations in the ____ gene, which encodes the ______ subunit of a stimulatory __ protein.

A

post zygotic…GNAS gene..alpha….G

42
Q

What is more common: monostotic or polyostotic fibrous dysplasia?

A

monostotic…one bone affected in 70-85% of pts

43
Q

When monostoic fibrous dysplasia occurs in the jaw which jaw is most affected? What region of that jaw?

A

posterior maxilla

44
Q

What syndromes are associated with polyostoic fibrous dysplasia?

A

1) Jaffe-Lichtenstein syndrome 2) McCune-Albright Syndrome 3) Mazabraud

45
Q

Polyostoic fibrous dysplasia: Hypophosphatemia appears to be related to the release of ________ by the affected bones.

A

fibroblast growth factor 23 (FGF23)

46
Q

__________ is characterized by polyostotic fibrous dysplasia and café au lait (coffee with milk) pigmentation

A

Jaffe-Lichtenstein syndrome

47
Q

_________ is characterized by polyostotic fibrous dysplasia, café au lait pigmentation, and multiple endocrinopathies

A

McCune-Albright syndrome

48
Q

________ is characterized by fibrous dysplasia and intramuscular myxomas

A

MaZaBraud syndrome

49
Q

Fibrous dysplasia histology: what cyst can be seen secondarily?

A

ANEURYSMAL BONE CYST

50
Q

FAMILIAL GIGANTIFORM CEMENTOMA: what type of inheritance pattern? Penetrance? Expressivity?

A

Autosomal Dominant…HIGH penetrance, VARIABLE expressivity

51
Q

What are the 4 manifestations of hyperparathyroidism-jaw tumor syndrome? What is the genetic mutation?

A

1) parathyroid adenoma/carcinoma 2)ossifying fibromas of the jaw 3)renal cysts 4)wilms tumors…HRPT2 gene

52
Q

What are the two varients of juvenile ossifying fibroma? Which is more common in the craniofacial region?

A

1) trabecular 2) psammomatoid….psammomatoid is more common in the craniofacial region

53
Q

Both classical familial adenomatous polyposis and theGardner syndrome variant are HIGHLY penetrant _______ disorders caused by mutations in the _______ tumor suppressor gene on chromosome ____.

A

Autosomal Dominant….adenomatous polyposis coli (APC)…5q21

54
Q

What are the # main maifestations (think by body system) of Gardner disease?

A
  1. colorectal (GI) polyps 2. osteomas 3. dental abnormalities (odontomas, supernum, impacted teeth) 4. skin lesions (epidermoid cysts, lipomas, NFs, fibromas, Leios 5. DESMOID TUMORS 6.thyroid carcinoma 7.adrenal adenoma/carcinoma 8.hepatoblastoma 9.pancreatic adenoca 10. nasopharyengeal angiofibrom 11. brain tumos 12. congenital hypertrophy of the retinal pigment epithelium
55
Q

What are the 3 dental manifestations of Gardner Syndrome?

A

1)odontomas 2) supernumerary teeth 3) impacted teeth

56
Q

cytogenetic studies have identified recurrent alterations on the long arm of chromosome __ in some osteoid osteomas and aggressive osteoblastomas.

57
Q

Chondromas frequently harbor somatic mutations in the ______ gene.

A

isocitrate dehydrogenase 1 (IDH1)

58
Q

What are the two conditions associated with chondromas?

A

Ollier disease (sporadic chondromatosis with unilateral tendency)…Maffucci syndrome (sporadic chondromatosis with soft tissue angiomas)

59
Q

In synovial chondromatosis… The detached particles are called ________

A

loose bodies

60
Q

_________ is considered the soft tissue counterpart of soft tissue fibromatosis (desmoid tumor)

A

desmoplastic fibroma

61
Q

What are the 4 syndromes associated with osteosarcoma?

A
  1. paget disease 2. Li-FrauMeni syndrome 3. Hereditary retinoblastoma 4. Rothmund-thomson syndrome
62
Q

Osetosarcoma is associated with abborhations in ____, ______, and ______

A

p53, RB1, and chromosome 21q

63
Q

Term for triangular elevation of the periostium on xray of a osterosarcoma?

A

Codman triangle

64
Q

What two stains can help differentiate a BFOL from osteosarcoma?

A

MDM2 and CDK4

65
Q

Term for a radiolucent line that corresponds to periosteum between sclerotic tumor and underlying cortex in a PAROSTEAL OSTEOSARCOMA?

A

“String sign”

66
Q

Increased risk for chondrosarcoma in patients with what two chrondromatosis syndromes?

A

ollier disease, maffucci syndrome

67
Q 
At the molecular level, Ewing sarcoma is defined by balanced chromosomal translocations that result in fusion of the RNA-binding protein \_\_\_\_ (or the closely related \_\_\_ protein) with \_\_\_ family
transcription factors (e.g., FLI1, ERG, ETV1, ETV4, and
FEV). In particular, more than 85% of cases demonstrate the translocation t(\_\_;\_\_) (q24;q12), which encodes the \_\_\_\_\_\_ fusion protein.
A

At the molecular level, Ewing sarcoma is defined by balanced chromosomal translocations that result in fusion of the RNA-binding protein EWS (or the closely related FUS protein) with ETS family transcription factors (e.g., FLI1, ERG, ETV1, ETV4, and FEV). In particular, more than 85% of cases demonstrate the translocation t(11;22) (q24;q12), which encodes the EWS-FLI1 fusion protein.

68
Q

What is the radiographic buzzterm for ewing sarcoma? (not really seen in jaw lesions, mostly extragnathic)

A

“onion skin” periosteal reaction

69
Q

What three stains can be helpful for Ewing sarcoma?

A

PAS positive granules, CD99(MIC2) +, FLI1 variable +

70
Q

What is the most common cancer involving bone?

A

Metastatic carcinoma

71
Q

What are the 5 most common primaries to met to bone?

A
  1. Breast 2.Lung 3. Thyroid 4. Prostate 5.Kidney

Neville and Damm (72 decks)

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