ch 27 s/s Flashcards
Lisch nodules
NF1
-pigmented nodules of the iris
subtle features orrestricted to a certain body part or severe dz
NF1
- (d/t mosaicism).
- (usually those with more severe chr. phenotypes).
stroma loose collagen
Localized cutaneous neurofibroma
unencapsulated nodular lesions on dermis and SQ fat.
Localized cutaneous neurofibroma
Complex chr. aberrations
Malignant Peripheral Nerve Sheath Tumor (MPSNT)
Antoni B areas (pic)
schwanoma
-admixture of loose areas (hypocellular
Skeletal defects
NF1
carney complex
schwanoma
Individual nodules appear encapsulated
Plexiform Neurofibroma
Tumor grows within and expand the n. fascicles
Plexiform Neurofibroma
Café-au-lait spots
NF1
-macular cutaneous hyperpigmentation
Diffusely infiltrates the dermis and SQ connective tissue
Diffuse Neurofibroma
Triton Tumor
Malignant Peripheral Nerve Sheath Tumor (MPSNT)
-‘Divergent differentiation’
large
Diffuse Neurofibroma
Tinnitus, hearing loss
schwanoma in cranial vault
Pseudomeissner corpuscles (tactile-like bodies)
Diffuse Neurofibroma
-Focal collections of cells mimicking appearance of Meissner corpuscles
Poorly defined tumor masses
Malignant Peripheral Nerve Sheath Tumor (MPSNT)
Antoni A areas (pic)
schwanoma
-admixture of dense areas
mutation at 17q NF1 LOF (TS neurofibromin
-NF1 duh
neurofirbomin
Entraps fat and appendage structures
Diffuse Neurofibroma
Mental retardation or seizures
NF1
mutation on ch 22
-schwanoma
-NE2
(merlin)
assoc w MPNST, gliomas of the optic n., other glial tumors and hamartomatous lesions, pheochromocytoma
NF1
Collagen may be seen in bundles (like shredded carrots)
Plexiform Neurofibroma
