12: Soft tissue Flashcards
surface of giant cell fibroma
papillary
bilateral giant cell fibromas behind MD canines – treatment?
retrocuspid papilla, disappears with age
retrocuspid papilla histo
giant cell fibroma
frenal tag
fibrous hyperplasia, most frequent on maxillary labial frenum
epulis fissuratum
hyperplasia of fibrous tissue with ill-fitting denture
fibrous hyperplasia with ill-fitting denture
epulis fissuratum
inflammatory papillary hyperplasia
usually under denture; mouth breathers or deep palatal vault
palate of mouth breathers
inflammatory papillary hyperplasia
benign fibrous histiocytoma histo
dermatofibroma
dermatofibroma in mouth
benign fibrous histiocytoma
other names for benign fibrous histiocytoma
sclerosing hemangioma, fibroxanthoma, nodular subepidermal ffibrosis
most common site of benign fibrous histiocytoma
skin of extremities
histo of benign fibrous histiocytoma
short intersecting fascicles: storiform (straw mat) or cartwheel pattern; fibroblasts, histiocytes, Touton giant cells, xanthoma cells, lymphocytes, HPC like areas
short intersecting fascicles: storiform (straw mat) or cartwheel pattern
benign fibrous histiocytoma
benign fibrous histiocytoma IHC
factor XIIIa+, Cd34 - (vs DFSP XIIIa and CD34+)
variants of benign fibrous histiocytoma
cellular (higher recurrence) and eputhelioid (mimics Spitz nevus)
which benign fibrous histiocytoma has higher recurrence
cellular
touton giant cells look
“wreath-like” nuclei around scalloped edge of the cell like a florette
“wreath-like” nuclei around scalloped edge of the cell like a florette
touton giant cells
juvenile xanthogranuloma histo
sheets of histiocytes (xantho), touton giant cells, +/- eos
juvenile xanthogranuloma IHC
CD68, antitrypsin + but S100 and CD1a negative
reticulohistiocytoma aka
solitary epithlioid histiocytoma
reticulohistiocytoma IHC
CD163+, CD68+
reticulohistiocytoma histo
large epithelioid histiocytes with glassy cytoplasm, lymphocytes, neutrophils, giant cells
generalized reticulohistiocytoma
multiple skin lesions and granulomatous polyarthritis
xanthoma histo
localized collection of tissue histiocytes containing lipid (not a true tumor)
localized collection of tissue histiocytes containing lipid
xanthoma
xanthoma systemic conditions
most primary and some secondary hyperlipoproteinemias
xanthomas of eyelid
xanthelasma
lipid levels in xanthelasma
normal
fibrous proliferations intermediate between benign and fibrosarc
fibromatosis
fibromatosis entities
desmoid tumor, juvenile aggressive fibromatosis, extra-abdominal fibromatosis
fibromatosis in bone
desmoplastic fibroma
desmoplastic fibroma
fibromatosis in bone
conditions with higher risj for fibromatosis
familial adenomatous polyposis and gardner
fibromatosis histo
spindle cells infiltrate muscle and fat; cells run parallel to vessels and collagen runs alongsid each cell; abindant collagen )little or no cell-too-cell contact); no hyperchromasia; multinucleated giant cells: atrophic skeletal muscle remnants at periphery of lesion
fibromatosis IHC
vimentin, SMA, MSA, beta catenin
sternocleidomastoid tumor
fibromatosis colli, most common type, few weeks after birth
most common type of fibromatosis
sternocleidomastoid tumor aka fibromatosis colli
juvenile hyaline fibromatosis
hereditary; muliple cutaneous papiles/nodules/masses, gingival hyperplasia, joint contracures, osteolytic defects
juvenile hyaline fibromatosis histo
cords of spindle cells embedded in homogeneous eosinophilic matrix
prliferation of myofibroblasts
myofibroma/myofibromatosis
multicentric myofibromatosis
neonates/infants with tumors of skin, bone, visceral organs
histo look of myofibroma
may appear biphasic: darker central area and lighter pripheral areas; nofules or whorls of elongated spindle cells, myxoid stroma, staghprn vessels, chondroid areas; may have smooth muslce/fibroblastc features, HPC-like pattern, local infiltration
myofibroma IHC
vimentin, SMA, PTAH +; desmin S100 -
nodular fasciitis demographic
adults 20-40yo, classically rapid growth, 50% with pain
most nodular fasciitis location
upper extremities, trunk, head and neck
nodular fasciitis histo
red spindle cells in fascicles and bundles; feathery “tissue culture” appearance; keloid-like collagen fibers; inflammation, hemosiderin, extravasated RBC
feathery “tissue culture” look
nodular fasciitis
nodular fasciitic IHC
KP-1+
keloid natural history and predilection
abnormal wound healing in genetically predisposed patients; dark-skinned; hypertrophic scar confined to original wound site
systemic associations for keloid
Ehlers-Danlos, scleroderma, Rubinstein-Taybi syndrome
keloid histo
haphazard, thick, glassy, deeply eosinophilic collagen fibers
inflammatory myofibroblastic tumor location and cause
most common in lung, overexpression of ALK kinase
inflammatory myofibroblastic tumor IHC
MSA, SMA, desmin, ALK-1
oral focal mucinosis cause
overproduction of hyaluronic acid by fibroblasts (Alcian blue+)
oral focal mucinosis location and predilection
75% gingiva, young females
locations for PG
75% gingiva (poor hygiene), also tongue, cheek, lips (trauma related)
PG in pregnancy cause and name
increased progesterone/estrogen, granuloma gravidarum
PG in extraction socket
epulis granulomatosa
epulis granulomatosa
PG in extraction socket
peripheral giant cell granuloma clinical look and location
blue-purple mass, exclusive to gingiva or alveolar ridge
peripheral ossifying fibroma look and location, demographic
pink or red, exclusively gingiva, more anterior maxilla, teenagers (females), incisor-cuspid area
most common mesenchymal neoplasm
lipoma
location for lpoma
trunk and proximal extremities, more in obese people
metaplasia in lipoma
central ctlg or osseous
highest recurrence rate among lipomas
intramuscular 2/2 infiltrative growth
histo look of spindle cell lipoma
bland spindle cells, myxoid changes, ropy collagen bundles, scattered mast cells, mature adipocytes
IHC lipoma
CD34+
lipoblastoma histo
lipoblasts and adipocyte with fibrous connective tissue septa
lipoblasts and adipocyte with fibrous connective tissue septa
lipoblastoma
age for lipoblastoma
< 3 yo (almost exclusively childrins)
hibernoma origin
vestigial remnants of brown fat
which neoplasm arises from vestigial remnants of brown fat
hibernoma
hibernoma histo look
multivacuolated cells (brown fat, like in hibernating animals)
hibernoma IHC
S100+, Cd34 –
hibernoma molecular
11q13 and 11q21 rearrangement
11q13 and 11q21 rearrangement neoplasm
hibernoma
traumatic neuroma location
mental foramen, tongue, lower lip, often with trauma
special complication of parotid surgeries
traumatic neuroma of greater auricular nerve in 10%
pain in traumatic neuroma
25-33%
palisaded encapsulated neuroma aka
solitary circumscribed neuroma
solitary circumscribed neuroma aka
palisaded encapsulated neuroma
palisaded encapsulated neuroma location
90% face (nose and cheeks)
special artifacts for palisaded encapsulated neuroma
cracking and peeling
cracking and peeling characteristics artifacts of what
palisaded encapsulated neuroma
neurilemoma syndrome assoc
NF2
NF2 assoc with what mesenchymal neoplasm
neurilemoma
NF2 inheritance, gene, neoplasms
AD, MERLIN (schwannomin) gene mutation (chr 22). b/l neurilemomas of vestibular nerve (acoustic neuromas), neurilemmomas of peripheral nerves, meningiomas and ependymomas of CNS
multiple neurilemomas but no vestibular tumors
schwannomatosis
schwannomatosis vs NF2
NF2 acoustic neuromas
carney syndrome
psammomatous melanocytic schwannomas
psammomatous melanocytic schwannomas syndrome
carney syndrome
verocay bodies
reduplicated basement membrane and cytoplasmic processes
reduplicated basement membrane and cytoplasmic processes
verocay bodies
ancient schwannoma features
hemorrhage, vessel hyalinization, pleomorphic cells, verocay bodies, xanthomatous changes, cysts, fibrosis and calcification
schwannoma vs neurofibroma IHC
S100 stronger in schwannoma
neurites in schwannoma vs neurofibroma
absent in schwannoma, present in NF
most common peripheral nerve neoplasm
neurofibroma
special cell in neurofibromas
mast cells
many mast cells in spindly lesion
prolly neurofibroma
histo look of NF
shredded carrot
shredded carrot
NF
NF IHC
S100 scattered
neurofibromatosis aka
von Recklinghausen disease of the skin
von Recklinghausen disease of the skin aka
neurofibromatosis
NF1 inheritance, gene, chromosome, product
50% AD, 50% new mutation; NF1 gene on chr 17, neurofibromin protein
NF1 vs NF2 gene, chromosome, product
NF1: NF1 gene on chr 17, neurofibromin; NF2: MERLIN (schwannomin) gene mutation (chr 22)
large baggy neurofibromas
elephantiasus neuromatosa in NF1
elephantiasus neuromatosa
large baggy neurofibromas in NF1
pathognomonic feel of neurofibroma in NF1
plexiform, bag of worms, especially in trunk
bag of worms skin lesion esp trunk
pathognomonic plexiform feel of neurofibroma in NF1
NF Dx
cafe au ait (6+), axillary freckling (Crowe’s sign), brown pigmented spots on the iris (Lisch nodules), optic glioma
optic glioma
NF1
axillary freckling in NF1
Crowe’s sign
Crowe’s sign
axillary freckling in NF1
Lisch nodules
brown pigmented spots on the iris in NF1
brown pigmented iris spots
Lisch nodules, NF1
most common oral finding in NF1
enlarged fungiform papillae in up to 50% of patients
most common medical problem in NF1
HTN
malignant transformation in NF
~5% of NF transform to malignant peripheral nerve sheath tumors; others: RMS, leukemia, pheochromocytoma, Wilms tumor
order of neural lesions occurrence
neuroma > schwannoma, NF > ancient schwannoma > plexiform NF
ganglioneuroma age location
average age 6y, most common in mediastinum
GI ganglioneuroma look and association
polypoid; associated with Cowden, tuberous sclerosis, juvenile polyposis, NF1, MEN2B
ganglioneuroma histo
scattered clusters of ganglion cells in a background of schwann cell bundles
ganglion cell look
large pink cytoplasm and 1-3 nuclei
neurothekeoma aka
nerve sheath myxoma
never sheath myxoma aja
neurothekeoma
neurothekeoma histo look
lobules of cells and myxoid stroma (hyaluronic acid or sulfated acid)
neurothekeoma IHC
S100 and PGP9.5+
cellular neurothekeoma
cellular, nuclear atypia, mitosis, extends into fat/mm/vessels
neurothekeoma ddx and how
focal mucinosis and myxoid neurofibroma – lobulation is key difference
perineurioma differentiation
most cells show perineural differentiation
perineurioma forms
intraneural, extraneural )soft tissue), sclerosing, reticaulr
intraneural perineurioma histo look
tiny “onion bulbs”, EMA+, S100+
ossifying fibromyxoid tumor of soft parts origin and location
possibly neuroectodermal, 70% in extrmities
ossifying fibromyxoid tumor of soft parts histo
lobules of uniform, round to fusiform cells in nests and cords, fibromyxoid stroma, incomplete shell of metaplastic hypocellular lamellar bone
ossifying fibromyxoid tumor of soft parts IHC
70% are vimentin and S100+; also desmin, Leu7, NSE, GFAP, SMA
granular cell tumor location
tongue > cheek, rarely parotid
granular cell tumor multiplicity demographic
black
granular cell tumor IHC
S100+ (schwann origin??), NK1C3, CD68, Leu7, NSE, MBP; GFAP and neurofilament –
examples of epulides
1- Giant cell epulis = PGCG
2- Ossifying fibroid epulis = peripheral ossifying fibroma
3- Congenital epulis
polyp on hard palate under denture
Leaf –like or fibroepithelial polyp
Granuloma gravidarum
Pyogenic granuloma
Proteus syndrome aka, presentation
(Wiedmann Syndrome ): overgrowth and atypical bone development, often
accompanied by tumors over half the body. Mistaken for NF1
other names for granular cell tumor
=Granular myoblastoma= Granular cell schwannoma
PHACES syndrome
Large segmental cervicofacial hemangioma Posterior fossa brain anomaly (Dandy – walker malformation ) Hemangioma Arterial anomalies Cardiac defects Eye anomalies Sternal cleft or supraumbilical raphe
Kasabach-Merritt phenomenon:
hemangioma thrombocytopenia syndrome
Tufted hemangioma
Kaposiform hemangioendothelioma
hemangioma thrombocytopenia syndrome
Kasabach-Merritt phenomenon:
Tufted hemangioma
Kaposiform hemangioendothelioma
Non hereditary developmental condition of hamartomatous vascular proliferation
Sturge- Weber Syndrome; Encaphalotrigeminal Angiomatosis; Sturge -Weber Angiomatosis
portwine stain aka
nevus flammeus
nevus flammeus aka
portwine stain
Sturge Weber mutation
GNAQ 9q21
Noonan syndromw
o Heart defect
o Web neck
o Flat nose
o Pectum excavatum
fibrous histiocytoma not in the mouth
dermatofibroma
dermatofibroma in the mouth
Fibrous histiocytoma;
solitary fibrous tumor IHC
CD34+, BCL-2, STAT6
cafe au lait spots
Coast of Maine = FD
Coats of California = NF
fibromatosis in bone
desmoplastic fibroma
fibromatosis syndrome
gardner
head and neck fibromatosis
Juvenile aggressive fibromatosis or extra-abdominal desmoids
fibromatosis recurrence
30%
criteria for neurofibromatosis type 1 (7)
- 6 ≥ café au lait macules – prepubertal > 5mm / adults >15 mm
- 2 ≥ NF or 1 plexiform
- Freckling in the axillary region ( Crow sign)
- Optic glioma
- 2 ≥ Lische nodules ( iris hamartoma)
- Osseous lesions
- A first degree relative
MNTI: preilection, location, radio look, labs, recurrence
Male predilection
Anterior maxilla but other sites have been reported
Sunray radiograph
Lab : High levels of urinary vanillylmandelic acid (VMA)
20% recurrence
MNTI IHC
+ CK, HMB-45, NSE, CD 56, Synaptophysin in some cases
increased vanillylmandelic acid entities
o MNET
o MTC
o Pheochromocytoma
o Neuroblastoma
paraganglioma in head and neck syndromes
NF1, MEN 2, von Hippel-lindau
syndrome
sustentacular cells in paragangliomas IHC
S100+
paraganglioma mutation and highest rate of malignancy
PGL1-4 (SDHB) / Type 4 has highest rate of malignancy 13% -23%
von hippel lindau chromosome and presentation
3p; Inherited disorder, formation of tumors and fluid-filled sacs (cysts) in many different
parts of the body. Tumors may be either noncancerous or cancerous and most
frequently appear during young adulthood.
tumors with von hippel lindau
angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma,
pancreatic cysts (pancreatic serous cystadenoma), endolymphatic sac tumor, and
bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the
uterus (women
VHL signs and symptoms
headaches, problems with balance and walking, dizziness,
weakness of the limbs, vision problems, and high blood pressure
favored site: Adult rhabdomyoma Granular cell tumor Hibernoma Paraganglioma
Adult rhabdomyoma H&N
Granular cell tumor skin, tongue
Hibernoma interscapular
Paraganglioma extra-adrenal ganglioma
electron microscopy: Adult rhabdomyoma Granular cell tumor Hibernoma Paraganglioma
Adult rhabdomyoma think/thick filaments
Granular cell tumor phagolysosomes
Hibernoma m/ch
Paraganglioma neurosecretory granules
S100: Adult rhabdomyoma Granular cell tumor Hibernoma Paraganglioma
Adult rhabdomyoma rare, focal
Granular cell tumor diffuse
Hibernoma diffuse
Paraganglioma sustentacular cells
MSA: Adult rhabdomyoma Granular cell tumor Hibernoma Paraganglioma
Adult rhabdomyoma diffuse
Granular cell tumor neg
Hibernoma neg
Paraganglioma neg
Chromogranin: Adult rhabdomyoma Granular cell tumor Hibernoma Paraganglioma
Adult rhabdomyoma neg
Granular cell tumor neg
Hibernoma neg
Paraganglioma diffuse
congenital epulis: sex, location, special cells
congenital granular cell lesion: 90% F, Midline, Maxilla
hemangioma of infancy special IHC
GLUT1
nasopharyngeal angiofibroma special radio
Anterior bowing of posterior wall of maxillary sinus
Anterior bowing of posterior wall of maxillary sinus
nasopharyngeal angiofibroma
nasopharyngeal angiofibroma: age, location, recurrence
Male Pterygopalatine fossa Sphenopalatine foramen Anterior bowing of posterior wall of maxillary sinus Recurrence 20 %-40%
lymphangiomas look
frog eggs or tapioca
frog eggs or tapioca
lymphangioma
macro vs microcystic lymphangioma
Macrocystic ( cystic hygroma) : 2cm > , 4% in blacks
Microcystic: 2cm < / Mixed
cystic hygroma
macrocystic (>2cm) lemphangioma, 4% in blacks
spider web
rhabdomyoma
Batson plexus:
Valveless vertebral venous plexus
origin of congenital epulis of newborn
likely myofibroblastic
congenital epulis of newborn aka
congenital granular cell lesion
congenital granular cell lesion aka
congenital epulis of newborn
gender, location for congenital epulis of newborn
10% multiple, 90% females, Mx>md ib akveikar ridge (rarely on tongue also)
congenital epulis of newborn IHC
S100 - (vs granular cell tumor), KP-1+, vimentin+; no pseudoepitheliomatous hyperplasia (unlike granular cell tumor)
pseudoepitheliomatous hyperplasia granular cell tumor vs granular cell lesion of newborn
yes in GCT, not in newborn epulis
extracranial meningioma origin
ectopic arachnoid lining cells
ectopic arachnoid lining cells give rise to
extracranial meningioma
extracranial meningioma types, location, origin, histo
1 - congenital - skin of scalp, forehead, paravertebral; abnormal neural tube closure; intermediate between meningocele an dmeningioma (aka meningeal hamartoma)
2 - adults - close to sensory organs (eye ear nose) - syncytial pattern, swirling whorled balls of cells, collagenous septa, psammoma bodies; CK+
type 1 extracranial meningioma location, origin, histo, aka
1 - congenital - skin of scalp, forehead, paravertebral; abnormal neural tube closure; intermediate between meningocele an dmeningioma (aka meningeal hamartoma)
type 2 extracranial meningioma location, origin, histo, IHC
2 - adults - close to sensory organs (eye ear nose) - syncytial pattern, swirling whorled balls of cells, collagenous septa, psammoma bodies; CK+
congenital displacement of neuroglial tissue aka
glial heterotopia, nasal glioma, glial hamartoma, heterotopic glial tumor; variant of encephalocele
glial heterotopia location, clinical, age
6-% subQ tissue of nose, 30% nasal cavity; polypoid mass in nose of infant, gros with infant
glial heterotopia in mouth
glial choristoma
glial choristoma histo, IHC
glial heterotopia; mats of glial tissue with astocytes; neuronal elements absent; GFAP+ (glial fibrillary acidic proterin), S100+
encephalocele vs glial heterotopia
encephalocele connects to CNS via defect in cribriform plate; when in nose, same as glial heterotopia
encephalocele histo
mixture of astrocytes, glial fibers, and neuronal elements (latter absent in glial heterotopia)
MEN1 aka, findings
Werner sybdrome: 3P: benign tumors of parathyroid, pancreas, and pitutary
benign tumors of parathyroid, pancreas, and pitutary which MEN
MEN1 aka Werner syndrome
MEN2A aka and findings
Sipple syndrome, pheochromocytoma and medullary thyroid ca
pheochromocytoma and medullary thyroid ca whih MEN
MEN2A aka sipple syndrome
MEN2B findings and mutation
Pheochromocytoma (50%), medullary thyroid ca (90%), mucosal neuromas; RET mutation (chrom 10); protuberant lips in narrow face, eversion of eyelids; marfanoid body (thin long limbs and muscle wasting)
mucosal neuromas which MEN
MEN2B
protuberant lips in narrow face, eversion of eyelids which MEN
MEN2B
neuromas in MEN2B location
lips, anterior tongue, bilatrally on commissures
marfanoid body which MEN
MEN2B
medullary thyroid ca labs
increased serum or urinary calcitonin
increased serum or urinary calcitonin labs
medullary thyroid ca
pheochromocytoma labs
increased vanillylmandelic acid and epi/norepi ratio
increased vanillylmandelic acid and epi/norepi ratio which conditions
pheochromocytoma, MNTI, neuroblastoma
MNTI labs
increased vanillylmandelic acid and epi/norepi ratio
neuroblastoma labs
increased vanillylmandelic acid and epi/norepi ratio
MNTI origin, age, location, gender, xray look
neural crest origin, <1 yo, Mx, M>F, sunray pattern on xray
MNTI histo and IHC
○ Large epithelioid cells CK+, HMB45+, neurospecific enolase +
○ Smaller cells neurospecific enolase +, CD56+, +/- other neuroendocrine markers
biphasic: NSE and CD56+ small round cells; CK+ epithelioid cells
MNTI
what are paraganglia
chemoreceptors that detect changes i blood pH and O tension
paraganglioma aka
chemodectoma
paraganglioma origin
neural crest
carotid body paraganglioma origin, gender, condition
neural crest, may arise in response to hypoxia; more in females at higher altitudes
cartoid body paraganglioma clinical
deep mass below angle of MD with pharyngeal swelling; Fontaine’s sign: lesion moved side to side but no vertical movement
Fontaine’s sign
lesion moved side to side but no vertical movement – carotid body paraganglioma
lesion moved side to side but no vertical movement
Fontaine’s sign, carotid body paraganglioma
% rule for carotid body paraganglioma (3)
10% multlifocal, 10% familial history (genomic imprinting), 10% metastasize
carotid body paraganglioma histo and IHC
zellballen, highly vascular; chief cells (type 1) – synapto/chromo; sustentacular cells (type 2) S1–+
carney’s triad
extra-adrenal paraganglioma., gastric leiomyosarcoma, pulmonary chondroma
when is carotid body paraganglioma malignant
when mets are present
jugulotympanic paraganglioma aka
glomus jugulare
glomus jugulare aka
jugulotympanic paraganglioma
jugulotympanic paraganglioma location and origin
paraganglia or auricular branch of vagal nerve or tympanic branch of glossopharyngeal nerve; temporal bone and middle ear;; glomus jugulare – when arises from jugular bulb;; glomus tympanicum – involves middle ear
glomus jugulare
jugulotympanic paraganglioma in jugular bulb
glomus tympanicum
jugulotympanic paraganglioma in middle ear
most common neoplasm of middle ear
jugulotympanic paraganglioma/glomus tympanicum
vagal body tumor aka
vagal paraganglioma
vagal paraganglioma aka
vagal body tumor
vagal paraganglioma findings and location
high cervical masses between mastoid process and angle of jaw; above carotid bifurcation without widening of bifurcation point
high cervical masses between mastoid process and angle of jaw; above carotid bifurcation without widening of bifurcation point
vagal paragnglioma
glomus tumor origin and function
glomus body: regulates temperature, is an AV shunt
arterial segment of glomus body
Sucquet-Hoyer
glomus body composition
varying proportions of glomus cells, blood vessels, and smooth muscle
glomus tumor clinical, location
papulonodular lesions, red/pink/blue, extremely painful;; acral distribution (hand, foot, forearm)
glomus tumor types
solid, glomangioma, glomangiomyoma (60%), infiltrating, glomangiosarcoma
glomangioma histo
cookie cutter cells (ptominent cell borders); round, centrally placed, almost neuroendocrine like; cells around vascular lakes
glomangiomyoma histo
smooth muscle cells near vascular spaces blending with glomus cells
hemangioma vs vascular malformation
hemangioma arises during first 8 wks, involutes; vascular malformation present at birth, no involution
most common tumor of infance
hemangioma
hemangioma gender, location
most common tumor of infancy, F:M 5:1, 60% H&N
PHACES syndrome
Posterior fossa brain anomaly (Dandy Walker), Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies, Stenral cleft/supraumbilical raphe
Kasabach Merritt phenomenon
thrombocytopenia and hemorrhage due to platelets being trapped in tufted hemangioma/or kaposiform hemangioendothelioma
thrombocytopenia and hemorrhage due to platelets being trapped in tufted hemangioma/or kaposiform hemangioendothelioma
Kasabach Merritt phenomenon
intrabony hemangioma radio and clinical
bruit/pulsation; multi or unilocular; radiolucent or sunburst
hemangioma histo types
juvenile or cellular (aka juvenile hemangioendothelioma), capillary, cavernous
most common slow growing tumor of infants
juvenile hemangioendothelioma aka jivenile/cellular hemangioma
hemangioma of infancy IHC
GLUT1+ (negative in vascular malformations)
intravascular papillary endothelial hyperplasia aka
Masson’s tumor, Masson’s hemangioma
papillary endothelial hyperplasia origin and histo
reactive pseudoneoplastic proliferation of endothelial cells associated with thrombosis; dilated vascular channels with endolthelial-lined papillary circles and stroma
reactive pseudoneoplastic proliferation of endothelial cells associated with thrombosis; dilated vascular channels with endolthelial-lined papillary circles and stroma
papillary endothelial hyperplasia aka Masson’s tumor
Sturge Weber aka
Sturge Weber sybdrome or angiomatosis, encephalotrigeminal angiomatosis
Sturge Weber clinical
port wine stain (nevus flammeus), leptomeningeal angiomas, seizzures, mental retardaton
sturge weber intraoral
gingiva may become hyperplastic or with PG(from vascular component or use of phenytoin for seizures)
sturge weber skull film
tramline calcifications
tramline calcifications on skull film
sturge weber
fibrous hyperplasia on maxillary labial frenum
frenal tag
frenal tag
fibrous hyperplasia on maxillary labial frenum
retrocuspid papilla
fibroma on gingiva lingual to MD canines, disappears with age
fibroma on gingiva lingual to MD canines
retrocuspid papilla
leaflike denture fibroma
fibroepithelial polyp on hard palate beneath denture, with serrated edges
polyp on hard palate beneath denture
leaflike denture fibroma or fibropithelial polyp with serrated edges
polyp with serrated edges
leaflike denture fibroma
fibromatosis of head and neck
juvenila aggressive fibromatosis or extra-abominal desmoid tumors
higher risk conditions for fibromatosis
familial adenomatous polyposis and Gardner
familial adenomatous polyposis and Gardner higher risk for
fibromatosis
multicentric myofibroma
myofibromatosis; infants with tumors of skin, bone, viscera
infants with tumors of skin, bone, viscera
multicentric myofibromatosis
oral focal mucinosis location and chemistry
increased hyaluronic acid, 75% on gingiva
PG in extraction socket
epulis granulomatosa
epulis granulomatosa
PG in extraction socket
lipoma with higher recurrence rate
intramuscular
risk in surgery for PA
traumatic neuroma in 10%
traumatic neuroma association
10% of surgeries for PA
schwannoma condition association
NF2
NF2 inheritance, genetics, chromosome, tumors
AD, MERLIN gene mutation (chr 22); acoustic neuromas, neurilemomas of peripheral nerves, meningiomas, ependymomas of CNS
NF1 inheritance, genetics, chromosome
50% AD, 50% new mutation; NF1 gene on chrom 17, neurofibromin protein
chrom 17 which NF
1 – neurofibromin
chrom 22 which NF
2 – MERLIN
MERLIN gene
NF2
large baggy neurofibromas special name
elephantiasis neuromatosa
bag of worms
plexiform neurofibroma
plexiform neurofibroma special feeling
bag of worms
elephantiasis neuromatosa
large baggy neurofibromas
diagnostic criteria for NF1
6+ cafe au lait, axillary freckling (Crowe’s sign), iris hamartoma )Lisch nodules), optic glioma
Lisch nodules are
iris hamartomas; NF1
freckling in NF1
Crowe’s sign
Crowe’s sign
axillary freckling in NF1
iris hamartomas in NF1
Lisch nodules
NF1 syndrome associations
Noonan syndrome and CGCG
most common problem in NF1
HTN
MPNST in NF1
5% of NF
anterior bowing of posterior wall of mx sinus
nasopharyngeal angiofibroma
nasopharyngeal angiofibroma special radio
anterior bowing of posterior wall of mx sinus
leiomyoma histo types
solid, angioleiomyoma, epithlioid leiomyoma (leiomyoblastoma)
leiomyoblastoma aka
epithlioid leiomyoma
epithlioid leiomyoma aka
leiomyoblastoma
special stain in rhabdomyoma
PTAH
MPNST and NF1
50% of MPNSTs are in pts with NF1
MPNST radio
widening of MD canal or mental foramen
widening of MD canal or mental foramen
suspect MPNST
triton tumor
MPSNT + malignant skeletal muscle
MPSNT + malignant skeletal muscle
triton tumor
olfactory neuroblastoma location
nasal cavity close to cribifrom plate
botryoid rhabdomyosarcoma histo
cambium layers: zone of increased cellularity below mucosa
zone of increased cellularity below mucosa in botryoid rhabdomyosarc
cambium layers
alevolar rhabdomyosarcs translocations
PAX3-FKHR and PAX7-FKHR
PAX3-FKHR
alveolar rhabdomyosarc
PAX7-FKHR
alveolar rhabdomyosarc
embryonal rhabdomyosarc generics
loss of heterozygosity 11p15
cowden syndrome
multiple trichilemmomas, adnexal hamartomas and nevi, hamartomatous intestinal polyps, breast and other malignancies
multiple trichilemmomas, adnexal hamartomas and nevi, hamartomatous intestinal polyps, breast and other malignancies
cowden syndrome
loss of heterozygosity 11p15
embryonal rhabdomyosarc
alveolar soft part sarc genetics
x17 translocation ASPL-TFE3 fusion protein
x17 translocation
alveolar soft part sarc
ASPL-TFE3 fusion protein
alveolar soft part sarc
synovial sarc genetics
x18 translocation SSx-SS18
x18 translocation
synovial sarc
SSx-SS18
synovial sarc
synovial sarc IHC
CK+, EMA+
batson plexus
vertebral plexus that bypasses lung filtration (explains distant mets in jaws but not in lungs)
distant mets in jaws but not in lungs
batson plexus – vertebral plexus that bypasses lung filtration
vertebral plexus that bypasses lung filtration
batson plexus (explains distant mets in jaws but not in lungs)
men soft tissue mets
lung, renal, melanoma; prostate goes to bone
women soft tissue mets
breast (IHC ER PR), genital, lung, bone, kidney
Klippel Trenaunay Weber syndrome
multiple facial hemangiomas, vascular masses with enlargement of extremities, ocular disorders
multiple facial hemangiomas, vascular masses with enlargement of extremities, ocular disorders
Klippel Trenaunay Weber syndrome
Klippel Trenaunay Weber syndrome oral findings
premature tooth eruption and bony overgrowth –> malocclusion
nasopharyngeal angiofibroma age gender location
exlusively in young males (10-17yo), pterygopalatine fossa
lesion of pterygopalatine fossa exclusively in young males
nasopharyngeal angiofibroma
nasopharyngeal angiofibroma imagina
anterior bowing of posterior wall of mx sinus, angiogram useful
anterior bowing of posterior wall of mx sinus
nasopharyngeal angiofibroma
hemangiopericytoma aka
solitary fibrous tumor
solitary fibrous tumor aka
hemangiopericytoma
hemangiopericytoma location in mouth and in general
75% cheek; common on pleura
hemangiopericytoma pattern
tightly packed cells around staghorn vessels
patternless pattern: spindle cells in short fascicles
solitary fibrous tumor/hemangiopericytoma
solitary fibrous tumor histo
remember aka hemangiopericytoma ~ alternating hyper/hypocellular zone; hypocellular with prominent hyalinized collagen bundles; bands of dense collagen separate individual cells; myxoid bluish background around islands of pleomorphic bland cells; HPC like areas with staghorns
solitary fibrous tumor IHC
CD34+, CD99+, bcl-2+, SMA -, STAT6
tightly packed cells around staghorn vessels
hemangiopericytoma (=SFT) like pattern
glomangiopericytoma aka
sinonasal hemangiopericytoma, glomus tumor, HPC-like tumor; distinct from soft tissue hemangiopericytome
sinonasal hemangiopericytoma aka
glomangiopericytoma, glomus tumor, HPC - like tumor; distinct from soft tissue hemangiopericytome
glomagiopericytoma histo
remember aka sinonasal hemangiopericytoma ~ monomorphic spindle to ovoid cells with lightly eosinophilic cytoplasm and bland nuclei forming short fascicles or a storiform/whorled/palisaded pattern; tumor cells aggregate around staghorn vessels
PEComa = ; examples, association
perivascular epithelioid cell neoplasm; derived from perivascular epithelioid cells. eg renal angiomyolipoma, lymphangiomyomatosis, clear cell sihar tumor of lung; associated with tuberous sclerosis complex
tuberous sclerosis classic organ tumors
renal angiomyolipoma, cardiacrhabdomyoma; subependymal giant cell astrocytoma
renal angiomyolipoma type of tumor and syndrome
PEComa ~ tuberous sclerosis
PEComa IHC, histo
melanocytic and muscle markers, can look like granular cell tumor
lymphangiomyomatosis what is it and demographic
PEComa, tuberous sclerosis association, exclusively in women of child-bearing age
lymphangioma types
simplex (capillary), cavernous, cystic (cystic hygroma)
lymphangioma location, age
50-75% head and neck, 90% <2yo
cystic lymphangioma location
most in posterior triangle of neck; anterior lesions more complications
oral lympahngiomas location and look
anterior 2/3 of tongue, frog eggs or tapioca pudding
neonates and lymphangiomas?
4% of black babies, esp boys, have bilateral lymphangiomas on mandibular alveolar ridge
leiomyoma locationas
most in uterus, GI tract, skin
leiomyoma histo types
solid, angioleiomyoma, epithelioid leiomyoma (leiomyoblastoma)
leiomyoma staining
Masson red muscle, SMA+, MSA+
rhabdomyoma types and locations
adult (pharynx, larynx, FOM, soft palate, base of tongue) and fetal (face, periauricular)
adult rhabdomyoma look and location
pharynx, larynx, FOM, soft palate, base of tongue; spider-web ~ peripheral vacuoles with filaments
fetal rhabdomyoma look and location
face, periauricular ~ haphazard spindle cells (muscle looking) in a myxoid stroma
rhabdomyoma IHC
myoglobin, desmin, MSA, PTAH + (PTAH myofibrils stain purple)
PTAH staining
purple myofibrils and rhabdomyoma
normal tissue in abnormal location
choristoma
excess tissue in normal location
hamartoma
hamartoma vs choristoma
hamartoma excess tissue in normal location; choristoma normal tisue in abnormal location
osseous and cartilaginous choristoma location gender
85% posterior tongue, 70% women
ectomesenchymal chondromycoid tumor location, histo, IHC
always anterior tongue; well defined multilobulated; spindle to round cells in a myxoid or chondroid background; GFAP+
multinucleate cell angiohistiocytoma origin and presentation
chronic inflammatory disorder of unknown cause; multiple firm, red-purple, dome shaped, coalescing/linearly arranged papules on skin of limbs
multiple firm, red-purple, dome shaped, coalescing/linearly arranged papules on skin of limbs
multinucleate cell angiohistiocytoma, chronic inflammatory disorder of unknown cause
multinucleate cell angiohistiocytoma histo, IHC
Histo: proliferation of small blood vessels with unusual dendritic cells and multinucleate cells; IHC endothelial - factor VIII-RA, CD34, CD31; dendritic - factor XIIIa, lysozyme, a1 antichymotrypsin, vimentin, CD68; giant cells - vimentin only
fibrosarcoma location and diagnosis
diagnosis of exclusion; most in deep soft tissues of lower extremities, especially thigh and knee
fibrosarcoma histo
herrinbone: fascicles of spindle cells
infantile fibrosarcoma aka and age
congenital fibrosarcoma, aggressive infantile fibromatosis; congenital or within first year of life
infantile fibrosarcoma histo
identical to adult but more prominent HPC-like growth
infantile fibrosarcoma genetics
12 15 translocation –> ETV6-NTRK3 fusion protein
12 15 translocation
ETV6-NTRK3 fusion protein
secretory Ca
ETV6-NTRK3 fusion protein
secretory carcinoma, 12 15 translocation
dermatofibrosarcoma protuberans genetics
translocation 17, 22 (Col11A1-PDGFbeta fusion and increase in PDGFbeta chain)
translocation 17, 22
dermatofibrosarcoma protuberans (Col11A1-PDGFbeta fusion and increase in PDGFbeta chain)
Col11A1-PDGFbeta
increase in PDGFbeta chain, dermatofibrosarcoma protuberans, translocation 17, 22
increase in PDGFbeta chain,
dermatofibrosarcoma protuberans, translocation 17, 22; Col11A1-PDGFbeta fusion
dermatofibrosarcoma distribution
bathing suit
dermatofibrosarcoma protuberans histo and IHC
monotonous haphazard storiform arrangement of spindle and stellate cells that infiltrate and entrap adnexa and adipose; low mitoses; IHC: Cd34+, factor XIIIa neg (vs BFH, CD34-, XIIIa+)
pigmented dermatofibrosarcoma protuberans
Bednar’s tumor
Bednar’s tumor
pigmented dermatofibrosarcoma protuberans
giant cell fibroblastoma
juvenile form of dermatofibrosarcoma protuberans
juvenile form of dermatofibrosarcoma protuberans
giant cell fibroblastoma
malignant fibrous histiocytoma age and pattern
older patients, storiform pattern
most commo soft tissue sarcoma (%, age?)
liposarcoma - 20% of all malignancies in adults
liposarcoma location
most in thigh, retroperitoneum, inguinal
liposarcoma types
well diff (most common in oral cavity), myxoid/round cell, pleomorphic, dedifferentiated
most common liposarcoma in mouth
well diff
worst prognosis of liposarcoma
pleomorphic
malignant peripheral nerve sheath tumor vs NF1
50% of MPNSTs are in NF1 pts; pts with MPNST and NF1 are 10y younget (35 vw 45) and worse prognosis than without NF1
MPNST location
proximal extremities and trunk
MPNST xray
widening of MD canal or mental forament
malignant triton tumor
MPNST + malignant skeletal muscle
MPNST + malignant skeletal muscle
malignant triton tumor
MPNST histo and IHC
low-power: distinctive perivascular tumor cells surrounded by necrosis: S100+ in only 50% of caes
angiosarcoma location and better prognosis
most in scalp and forehear; early lesion resembles a bruise; better prognosis for oral and salivary gland tumors
hemangioendothelioma
intermedite between hemangioma and angiosarcoma
angiosarcoma IHC
CD31+, factor VIII+; CD34 less consistnet
angiosarcoma environmental risk factors
PVC vinyl chloride carcinogen; radiation (increased incidence in women with history of breast cancer
stewart-treves syndrome
angiosarc with chronic lymphedema
angiosarc with chronic lymphedema
stewart-treves syndrome
kaposi sarcoma types
classic, endemic (benign, aggresive, florid, lymphadenopathic), iatrogenic, AIDS related
kaposi stages
patch, plaque, nodular
patch stage of kaposi
normal structures admixed with tumor proliferation, promontory sign
leiomyosarcoma location
most in uterine wall and GI tract
epithelioid leiomyosarcoma histo
entirely of rounded cells
leiomyosarcoma mutation
some associated with RBI mutation
RBU mutation
leiomyosarcoma (some)
leiomyosarcoma special stain
PAS shows glycogen within the cells; cell cytoplasm red on Masson trichrome; MSA (HHF35), SMA, desmin, H-caldesmon, SMMS (smooth muscle myosin)
rhandomyosarcoma frequency
60% of soft tissue sarcomas in children
types of rhabdomyosarcomas and ages
embryonal (NOS, botryoid, spindle) - <10 yo; alveolar (10-25yo), pleomorphic >40yo
most common sarcoma in children
rhabdomyosarcoma
embryonal rhabdomyosarc histo
round, spindle, and strap cells
rhabdomyosarcoma location
head and neck: face/orbit; and GU tract; oral rhabdomyosarc - palate and maxillary sinus
rhabdomyoblasts histo
small cells with dark nucleo and depply pink cytoplasm
botryoid rhabdomyosarc
exophytic polypoid growth in a cavity (mouth, vag(
exophytic polypoid rhabdomyosarc in a cavity (mouth, vag)
botryoid, type of embryonal
cambium layers in rhabdomyosarc
zone of increased cellularity just below mucosa in botryoid
zone of increased cellularity just below mucosa in botryoid rhabdomyosarc
cambium layers
alveolar rhabdomyosarc genetics
PAX3-FKHR and PAX7-FKHR translocation
PAX3-FKHR
alveolar rhabdomyosarc
PAX7-FKHR
alveolar rhabdomyosarc
embryonal rhabdomyosarc genetics
11p15 LOH
11p15 LOH
embryonal rhabdomyosarc
rhabdomyosarc IHC
myogenin, myoD1, HHF-35
alveolar soft part sarcoma geneics
X;17 translocation, ASPL-TFE3 fusion protein
ASPL-TFE3 fusion protein
alveolar soft part sarcoma, X;17 translocation
X;17 translocation
alveolar soft part sarcoma, ASPL-TFE3 fusion protein
alveolar soft part sarcoma age sex location
young patients – orbit and tongue, more females; adults – lower extremities, more males
alveolar soft part sarcoma histo and IHC
discohesive cells in nests, minimal atypia, vascular inastion; TFE3+ only IHC marker;; CRYSTALS! crystals are PAS+, diastase resistant; latticework pattern on EM
crystals in alveolar soft part sarcoma
crystals are PAS+, diastase resistant; latticework pattern on EM
synovial sarcoma genetics
X;18 translocation - SYT gene chr 18 and SSX1/SSX2 on gene X; –> SYT/SSX fusion mRNA can be detected by RT-PCR or FISH
X:18 translocation
synovial sarcoma; SYT gene chr 18 and SSX1/SSX2 on gene X; –> SYT/SSX fusion mRNA can be detected by RT-PCR or FISH
SYT-SSX fusion mRNA
X;18 translocation; synovial sarcoma
synovial sarcoma location
most near large joints and bursae of extremities; head and neck: paravertebral and parapharyngeal mass
synovial sarcoma histo and IHC
classically biphasic: spindle cells ~ fibrosarcoma + epithelial cells around glandlike spaces or in nests/cords/whorls.
“slit-oma” calcifications in 30%, staghorn vessels;;; CK+, EMA+, CD99+
follicular dendritic cell sarcoma origin and location
arises from dendritic (antigen-presenting) cells; predilection for LN of neck, axilla, mediastinum
follicular dendritic cells histo, IHC
syncytial appearing spindly cells in fascicles or whorls; CD21, CD35+
ewing sarcoma aka
primitive neuroectodermal tumor
primitive neuroectodermal tumor aka
ewing sarcoma
ewing sarcoma demographics and presentation
usually whites <20yo, mandible. fever, increased ESR, leukocytosis
ewing sarcoma genetics
11,22 translocation. MIC2 gene product. CD99+. FISH against translocation more specific
11, 22 translocation
Ewing sarcoma, MIC2 gene product (CD99+ but FISH against translocation more specific)
MIC2 gene product
Ewing sarcoma, 11, 22 translocation. (CD99+ but FISH against translocation more specific)
periosteal reaction in ewing
onionskin – long bones, not common in jaws
atypical ewing sarcoma
larger cells
ewing sarcoma histo
small undifferentiated round blue cells, probably neuroectodermal. 75% contain glycogen granules in cytoplasm.
ewing sarcoma locations with poorer prognosis
pelvic and proximal lesions
most common locations for mets to oral soft tissues
gingiva ~50% (looks like PG) and tongue 25%