Ch12 Soft Tissue Tumors - Getting Nervous Flashcards
What % range of schwannomas occur in the head and neck?
25-48%
Bilateral schwannomas of the _________ nerve are a characteristic feature of the hereditary condition, neurofibromatosis type II (NF2).
auditory-vestibular (CN VIII)
Bilateral ________ of the auditory-vestibular nerve are a characteristic feature of the hereditary condition, neurofibromatosis type II (NF2).
schwannomas
Bilateral schwannomas of the auditory-vestibular nerve are a characteristic feature of the hereditary condition _____________.
neurofibromatosis type II (NF2)
What is the genetic disorder where multiple schwannomas occur?
schwannomatosis
Whats the alternate name for a schwannoma?
Neurilemoma
As a schwannoma grows, it pushes the nerve aside..are they symptomatic?
not usually symptomatic
Schwannoma: age range? most common site?
young and middle-aged adults…tongue
Can an intraosseous schwannoma cause boney expansion? Where are they most common? Do they produce pain/paresthesia?
you bet your ass they can…posterior mandible…do not usually cause pain/paresthesia
NF2 is what type of inheritance?
autosomal dominant
NF2 is caused by a mutation of a WHAT tumor suppressor gene? What chromosome? What is the protein this gene is codes for?
The NF2 tumor supressor gene lol….chromosome 22….MERLIN protein
Bilateral schwannomas AKA (“________”) of the vestibular nerve are signs of what condition?
acoustic neuromas…NF2
NF2 patients also develop ________ of peripheral nerves, plus _______ and _______ of the central nervous system (CNS)
schwannomas…meningiomas and gliomas
NF2: on occasion, ________ and _______ skin pigmentation may be observed.
neurofibromas…café au lait
NF2 characteristic symptoms include progressive sensorineural ________, dizziness, and tinnitus
deafness
Schwannomatosis is related to a mutation of the _________ gene on chromosome ___.
SMARCB1…22
Which Antoni?: Streaming fascicles of spindle-shaped Schwann cells…. ALSO - are schwannomas encapsulated?
Antoni A….”usually” encapsulated
Which Antoni?: These cells often form a palisaded arrangement around central acellular, eosinophilic areas
Antoni A
In Antoni A schwannomas: cells often form a palisaded arrangement around central acellular, eosinophilic areas called ________
verocay bodies
Verocay bodies consist of reduplicated ________ and ________ processes.
basement membrane and cytoplasmic
Antoni ___ tissue is less CELLULAR and less ORGANIZED; the spindle cells are randomly arranged within a loose, myxomatous stroma
B
The tumor cells in a schwannoma will show a diffuse, positive immunohistochemical reaction for ______
S-100 protein
What is the term for a schwannoma that has undergone degenerative changes?
ANCIENT schwannoma
What 5 features can be present in an ANCIENT schwannoma?
- hemorrhage 2.hemosiderin 3.inflammation 4.fibrosis 5. nuclear atypia
Which variant of schwannoma is characterized grossly
and microscopically by a multinodular, plexiform growth
pattern?
plexiform schwannoma (lol)
Which variant of schwannoma is occasionally associated with NF2 or Schwannomatosis?
Plexiform schwannoma
Plexiform schwannoma is occasionally associated with what two entities?
NF2 or schwannomatosis
Schwannoma: recurrence? malignant transformation?
“should not recur” and malignant transformation “does not occur” or is “extremely rare”
Vestibular schwannomas in patients with ___ are difficult to manage.
NF2
What is the most common type of peropheral nerve neoplasm?
neurofibroma
What are the two main cells that comprise a neurofibroma?
schwann cells (neuro), PERINEURAL fibroblasts (fibroma) (lol)
Solitary neurofibromas are most common in what age group?
young adults
What is the most common location overall for a neurofibroma? What about inside the oral cavity (2 sites)?
the skin…tongue and buccal mucosa
What is the radiographic appearance of a bony neurofibroma (yes, they occur)?
well to poorly demarcated uni or multilocular radiolucency (ha very specific)
Neurofibroma: composed of interlacing bundles of spindleshaped cells that often exhibit ____ nuclei…_____ cells tend to be numerous and can be a helpful diagnostic feature
wavy…MAST
Neurofibroma: Sparsely distributed small axons usually can be demonstrated within the tumor tissue by using ____ stains.
silver
Neurofibroma: Immunohistochemically, the tumor cells show a scattered, positive reaction for _______
S-100 protein
Neurofibroma: solitary recurrence following excision..what special consideration should be made? Malignant transformation?
RARE, evaluate clinically for neurofibromatosis..malignancy can occur, but risk is low esp compared to neurofibromatosis
NF1 accounts for __ - __ % of neurofibromatosis cases
85-97%
What is the tumor suppressor gene product of the NF1 gene?
What chromosome does the NF1 gene occur on?
neurofibromin…….17q11.2
Diagnostic criteria for NF1: How many of the 7 diagnostic criteria need to be met?
2 or more
Diagnostic criteria for NF1: ____ or more ______ macules more than __ mm in greatest diameter in prepubertal persons and more than __ mm in
greatest diameter in postpubertal persons
6…café au lait…5..15
Diagnostic criteria for NF1: ___ or more neurofibromas of any type or ONE ______ neurofibroma
2…PLEXIFORM
Diagnostic criteria for NF1: Freckling in the _______ OR _______ regions
axillary or inguinal
Diagnostic criteria for NF1: Optic _____
glioma
Diagnostic criteria for NF1: Two or more _____ nodules (iris hamartomas)
Lisch
Diagnostic criteria for NF1: A distinctive ________ lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis
osseous
Diagnostic criteria for NF1: A _____-degree relative (parent, sibling, or offspring) with NF1, based on the previously mentioned criteria
first
The clinical appearance of neurofibromatosis can vary from small papules to larger soft nodules to massive baggy, pendulous masses called _________
elephantiasis neuromatosa
The ________ variant of neurofibroma, which feels
like a “________,” is considered PATHOGNOMONIC for NF1.
plexiform….bag of worms
When do NF1 tumors typically begin to manifest?
puberty
What fraction of NF1 pts have mild disease? What life situation can cause more rapid growth?
2/3 mild disease…pregnancy
In NF1, this pigmentation typically has an edge (“coast of _______”), in contrast to the border of the café au lait spots that may occur with polyostotic fibrous dysplasia resemble the coast of _____
smooth edge: California….Maine
Coast of California
NF1
Coast of Maine
Polyostotic fibrous dysplasia
What is the clinical term for freckling of the axilla?
Crowe sign
What translucent brown-pigmented spots on the iris are found in NF1 pts? How many of NF1 pts have these?
Lisch nodules: NEARLY ALL NF1 pts
What is the most common general medical problem in NF1 patients? What is this condition often secondary to (3 possibilities)?
HTN…secondary to coarctation of the aorta, pheochromocytoma, or renal artery stenosis
NF1 presents in the oral cavity in __-__% of patients…what is the most common finding in the oral cavity? What % of NF1 patients have this finding?
72-92% of patients…enlarged fungiform papillae…up to 50% have it
What % (range) of NF1 patients develop NFs in the mouth?
25-37%
Radiographic findings in NF1: enlargement of the mandibular _______, enlargement or branching of the mandibular _____ , _______ bone density, concavity of the ______ surface of the ramus, and increase in dimension of the _______ notch. Cephalometric analysis often shows a ______ length of the mandible, maxilla, and cranial base.
foramen..canal…increased…medial…coronoid…short
Odd clinical variants of NF1: unilateral enlargement that mimics ________. In addition, several patients with NF1 have been described with associated _______ syndrome or with _________ of the jaw.
hemifacial hyperplasia…Noonan….central giant cell granulomas
What is the most common malignancy in NF1 patients? (main name and 2 alternate names) What % of patients have been reported? WHERE are they most commonly seen?
Malignant peripheral nerve sheath tumor (neurofibrosarcoma, malignant schwannoma)…5%…trunk and extremities
Besides a malignant peripheral nerve sheath tumor, what 5 malignancies have been associated with NF1?
1.CNS tumors 2.pheochromocytoma 3.leukemia 4.rhabdomyosarcoma 5.wilms tumor
What is the life exectancy of an NF1 pt compared to the general population?
8-15 years shorter due to vascular disease and malignant neoplasms
Genetic council is extremely important for NF1 pts so they learn that they DONT have Proteus syndrome…AKA the _______ syndrome
elephant man
What are the 4 places affected by MEN1?
parathyroid, pancreatic islets, anterior pituitary, and adrenal cortex
What are the three disorders associated with MEN2? What do they all have in common?
MEN2A, MTC, MEN2B…they all lead to development of MTC (medullary thyroid carcinoma)
The MEN2 disorders are caused by mutations at various sites of the ____ proto-oncogene on chromosome ___
RET…10
Patients with familial MTC syndrome develop MTC but are not at increased risk for _______.
other neuroendocrine tumors
Patients with MEN type 2A are at increased risk for ____ (over 95% of patients), __________(50% of patients), and ___________ (20% to 30% of patients).
MTC, adrenal pheochromocytomas, primary hyperparathyroidism
Which MEN2 disorder has oral manifestations? What are the oral manifestations?
mucosal neuromas
Patients with MEN type 2B usually have a ________ body build
marfanoid
Are neurofibromas encapsulated?
No, often well-circumscribed though (esp in the perineurium, when outside the perineurium they can be less demarcated)
What is the alternate name for NF1?
von Recklinghausen disease of the skin
How many types of neurofibromatosis are there?
at least 8 forms
What % of patients with NF1 have NO family history and represent new mutations?
50%
