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ABGC2 > Cancer (1) > Flashcards

Cancer (1) Flashcards

1
Q

What is a multifocal tumor and what is its relevance to hereditary cancer syndromes?

A

multiple tumors arising from the same original tumor

more likely to be part of a hereditary cancer syndrome

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2
Q

What is a proto-oncogene? How many hits cause cancer?

A
  • a gene with the potential to turn into an onco gene which is a gene with the potential to cause cancer by over expression and promotion of growth
  • 1 hit
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3
Q

What is a tumor suppressor gene? How many hits cause cancer?

A
  • a gene which suppresses tumor growth

- 2 hits

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4
Q

Name 5 syndromes which include Wilms’ tumor

A
  • BWS
  • isolated hemi-hypertrophy
  • WAGR
  • Denys Drash
  • Bloom
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5
Q

What is a schwannoma?

A

a myelin sheath nerve tumor

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6
Q

What are the 3 most common types of thyroid cancer (most to least)?

A
  • well differentiated papillary
  • well differentiated follicular
  • medullary
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7
Q

What is a paraganglioma?

A

a tumor arising in neuroendocrine tissue

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8
Q

Are paragangliomas usually malignant or benign?

A

benign

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9
Q

What is a pheochromocytoma?

A

like a paraganglioma, but specifically adrenal

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10
Q

Are pheochromocytomas usually malignant or benign?

A

benign

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11
Q

In what organ is a Wilms’ tumor?

A

kidney

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12
Q

Name 5 hereditary cancer syndromes implicating the skin

A
  • FAMMM
  • Gorlin
  • XP
  • NF
  • TSC
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13
Q

What is another name for NF2?

A

Legius syndrome

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14
Q

What is another name for Gorlin syndrome?

A

NBCCS

nevoid basal cell carcinoma syndrome

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15
Q

Name 4 hereditary cancer syndromes implicating the endocrine system / thyroid

A
  • FMTC
  • MEN1
  • MEN2
  • pheo/PGL
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16
Q

Name 4 hereditary cancer syndromes implicating the kidney

A
  • VHL
  • BHD
  • HPRC
  • HLRCC
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17
Q

What 2 features are associated with FMTC?

A
  • medullary thyroid cancer

- nothing else

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18
Q

What is the inheritance pattern of all 4 hereditary cancer syndromes implicating the endocrine system / thyroid?

A

AD

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19
Q

What biochem test can one do in MEN1?

A

high blood calcium

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20
Q

What are the 3 “P” tumors in MEN1

A
  • parathyroid
  • pituitary
  • pancreatic islet cell
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21
Q

Are the tumors in MEN1 usually malignant?

A

Some are, most are not

But the main issue with the endocrine tumors in MEN1 is that they lead to problematic increased hormone secretion

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22
Q

What should always be the first step if medullary thyroid carcinoma is detected?

A

test RET gene (could be MEN2 and associated with other malignancies)

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23
Q

What are the similarities and differences between MEN2A and MEN2B?

A

same:
- pheochromocytomas
different:
- MEN2A: also hyperparathyroidism
- MEN2B: also Marfanoid habitus, mucosal neuromas, colon problems

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24
Q

What hereditary cancer syndrome comes with a Marfanoid habitus?

A

MEN2B

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25
Q

Which pheo/PGL syndrome deals with imprinting?

A

PGL1

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26
Q

What are the imprinting implications of PGL1?

A

tumors only if mutation inherited from father

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27
Q

Which PGL syndrome includes risk for renal clear cell carcimona?

A

PGL4

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28
Q

Which PGL syndrome(s) have risk for only PGL and not also pheos?

A
  • PGL2

- PGL3

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29
Q

Match the SDHB/C/D genes with PGL types 1/2/3/4:

A

PGL1: D
PGL2: unknown
PGL3: C
PGL4: B

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30
Q

After how many primary invasive melanomas should genetic testing be pursued?

A

3 or more

31
Q

What are the 2 things someone with FAMMM is at risk for?

A
  • malignant melanoma

- pancreatic cancer

32
Q

What is the inheritance pattern of Gorlin syndrome?

A

AD

33
Q

What percentage of Gorlin syndrome cases are de novo?

A

30%

34
Q

What are 4 features of Gorlin syndrome?

A
  • hundreds of basal cell carcinomas
  • jaw keratocysts
  • calcium deposits in skull
  • hand or foot pits
35
Q

What is the inheritance pattern of xeroderma pigmentosum?

A

AR

36
Q

What condition has the main feature of extreme photosensitivity?

A

xeroderma pigmentosum

37
Q

What percentage of XP patients are mutations identified in?

A

approx. 50%

38
Q

What is the inheritance pattern of ataxia telangiectasia?

A

AR

39
Q

In which hereditary cancer syndrome is AFP elevated?

A

ataxia telangiectasia

40
Q

What is a telangiectasia?

A

dilated blood vessel

41
Q

What is an example of a hereditary cancer syndrome with immunodeficiency?

A

ataxia telangiectasia

42
Q

What is the general population carrier frequency of Fanconi anemia?

A

1/300

43
Q

What is the Ashkenazi Jewish carrier frequency of Fanconi anemia?

A

1/90

44
Q

What are 5 features of Fanconi anemia?

A
  • physical malformations
  • progressive bone marrow failure
  • solid tumors
  • fatigue due to anemia
  • AML in 30%
45
Q

Name 2 hereditary cancer syndrome with short stature?

A
  • Bloom

- Fanconi

46
Q

What percentage of those with Fanconi anemia have DD?

A

10%

47
Q

What is the inheritance pattern of the hereditary renal cancer syndromes?

A

AD

48
Q

At what age do features first appear in VHL patients?

A

avg: 25y

early as 5y

49
Q

What are 4 features of VHL?

A
  • Hemangioblastomas
  • Endolymphatic sac tumors
  • Renal cell carcinoma, clear cell
  • Pheochromocytoma
50
Q

What is a hallmark of VHL?

A

endolymphatic sac tumors

51
Q

What are 3 features of BHD?

A
  • renal cell carcinoma
  • fibrofolliculomas
  • pulmonary cysts and spontaneous pneumothorax
52
Q

What is the life expectancy of someone with Bloom syndrome?

A

survival past 40y is rare

53
Q

What are 4 features of Bloom syndrome?

A
  • childhood cancers (lymphoma, leukemia, Wilms’ tumor)
  • growth deficiency
  • sun-sensitive skin
  • learning disabilities
54
Q

What is a leiomyoma?

A

benign smooth muscle tumor

55
Q

Which 2 hereditary cancer syndromes show clear cell renal carcinoma?

A
  • VHL

- BHD

56
Q

Which hereditary cancer syndrome shows papillary renal carcinoma type 1?

A

HPRC

57
Q

Which hereditary cancer syndrome shows papillary renal carcinoma type 2?

A

HLRCC

58
Q

Which hereditary cancer syndrome presents with either clear cell or chromophile renal carcinoma?

A

BHD

59
Q

What percentage of NF1 cases are de novo? In which parent is the mutation more likely to originate?

A
  • 50%

- father

60
Q

What percentage of NF1 patients have learning disabilities or attention deficits?

A

50%

61
Q

What are the 8 diagnostic criteria for NF1 (2 must be met)?

A
  • 6 CALMs
  • 2 neurofibromas
  • 1 plexiform neurofibroma
  • axillary or inguinal freckling
  • optic glioma
  • 2 Lisch nodules
  • distinctive osseous phenotype
  • 1st degree relative w/NF1
62
Q

By what age are clinical criteria for NF1 usually met?

A

8y

63
Q

What are the size requirements for CALMs (with respect to NF1) pre- and postpuberty?

A

pre: >5mm
post: >15mm

64
Q

Are NF1 patients at risk for pheochromocytomas?

A

yes

65
Q

What 3 similar features does NFLS/Legius have to NF1?

A
  • CALMs
  • freckling
  • macrocephaly
66
Q

What are 3 features in NF1 which are not present in NFLS/Legius?

A
  • Lisch nodules
  • neurofibromas
  • CNS tumors
67
Q

What are 2 features present in NFLS/Legius which are absent in NF1?

A
  • Noonan-like dysmorphology

- DD

68
Q

What is the hallmark of NF2?

A

bilateral vestibular schwannomas leading to HL, tinnitus, imbalance

69
Q

What is the inheritance pattern of tuberous sclerosis complex?

A

AD

70
Q

Name 4 categories of tuberous sclerosis complex features

A
  • skin
  • brain
  • renal
  • cardiac
71
Q

What cardiac feature is seen in tuberous sclerosis complex?

A

rhabdomyoma

72
Q

What percentage of TSC patients are severely cognitively impaired?

A

33%

73
Q

What percentage of TSC patients have normal intelligence?

A

50%

74
Q

In what syndrome is lymphangiomyomatosis (LAM) present?

A

TSC

ABGC2 (12 decks)

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