ch 27 s/s Flashcards

1
Q

Lisch nodules

A

NF1

-pigmented nodules of the iris

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2
Q

subtle features orrestricted to a certain body part or severe dz

A

NF1

  • (d/t mosaicism).
  • (usually those with more severe chr. phenotypes).
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3
Q

stroma loose collagen

A

Localized cutaneous neurofibroma

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4
Q

unencapsulated nodular lesions on dermis and SQ fat.

A

Localized cutaneous neurofibroma

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5
Q

Complex chr. aberrations

A

Malignant Peripheral Nerve Sheath Tumor (MPSNT)

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6
Q

Antoni B areas (pic)

A

schwanoma

-admixture of loose areas (hypocellular

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7
Q

Skeletal defects

A

NF1

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8
Q

carney complex

A

schwanoma

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9
Q

Individual nodules appear encapsulated

A

Plexiform Neurofibroma

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10
Q

Tumor grows within and expand the n. fascicles

A

Plexiform Neurofibroma

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11
Q

Café-au-lait spots

A

NF1

-macular cutaneous hyperpigmentation

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12
Q

Diffusely infiltrates the dermis and SQ connective tissue

A

Diffuse Neurofibroma

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13
Q

Triton Tumor

A

Malignant Peripheral Nerve Sheath Tumor (MPSNT)

-‘Divergent differentiation’

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14
Q

large

A

Diffuse Neurofibroma

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15
Q

Tinnitus, hearing loss

A

schwanoma in cranial vault

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16
Q

Pseudomeissner corpuscles (tactile-like bodies)

A

Diffuse Neurofibroma

-Focal collections of cells mimicking appearance of Meissner corpuscles

17
Q

Poorly defined tumor masses

A

Malignant Peripheral Nerve Sheath Tumor (MPSNT)

18
Q

Antoni A areas (pic)

A

schwanoma

-admixture of dense areas

19
Q

mutation at 17q NF1 LOF (TS neurofibromin

A

-NF1 duh

neurofirbomin

20
Q

Entraps fat and appendage structures

A

Diffuse Neurofibroma

21
Q

Mental retardation or seizures

A

NF1

22
Q

mutation on ch 22

A

-schwanoma
-NE2
(merlin)

23
Q

assoc w MPNST, gliomas of the optic n., other glial tumors and hamartomatous lesions, pheochromocytoma

A

NF1

24
Q

Collagen may be seen in bundles (like shredded carrots)

A

Plexiform Neurofibroma

25
Q

Immunoreactvity for S-100

A

schwanoma

26
Q

bag of worms appearance

A

Plexiform Neurofibroma

27
Q

‘Marbelized’ appearance d/t

A

Malignant Peripheral Nerve Sheath Tumor (MPSNT)

-variations in cellularity

28
Q

Low cellularity

A

Localized cutaneous neurofibroma

29
Q

result of malignant transformation from plexiform neurofibroma

A

Malignant Peripheral Nerve Sheath Tumor (MPSNT)