Head and neck pathology Flashcards

1
Q

70M, cheek lesion. PHx smoker

Dx:
Key features:

A

Warthin’s tumour (of parotid).
aka papillary cystadenoma lymphomatosum.
Well-circumscribed, papillary tumour.
MIcro: Double layer of oncocytic epithelial cells lining papillary/cystic structures + lymphoid component.

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2
Q

Name the three types of nasal papillomas

A

Inverted, oncocytic, exophytic

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3
Q

nasal lesion.

Dx?
Key features?

A

Sinonasal papilloma, inverted type
Predominantly endophytic non-destructive growth; ribbons/nests of hyperplastic, immature squamous epithelium; transmigrating intraepithelial neutrophilic inflammation.

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4
Q

Right nasal septum lesion

Dx?
Key features?

A

Sinonasal papilloma, oncocytic type
Essential: mixed exophytic and endophytic growth pattern; oncocytic cells with cuboidal to columnar morphology; intraepithelial microcysts with mucin and/or neutrophilic microabscesses.

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5
Q

nasal lesion.

Dx?
Key features?

A

Sinonasal papilloma, oncocytic type.
mixed exophytic and endophytic growth pattern; oncocytic cells with cuboidal to columnar morphology; intraepithelial microcysts with mucin and/or neutrophilic microabscesses.

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6
Q

left lower nasal septum lesion

Dx?
Key features?

A

Essential: proliferative, exophytic, and papillary growth; lined by a multilayered sinonasal-type epithelium; no high-grade squamous dysplasia; no inverted or destructive infiltrative growth.

Scattered intraepithelial neutrophils are common

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7
Q

mandibular biopsy

Dx?
Key features?

A

ameloblastoma, conventional
Essential: location in jaws; islands/strands of odontogenic epithelium bounded by cuboidal/columnar cells with palisaded, hyperchromatic nuclei; reverse polarity (less marked in plexiform pattern); loose central epithelium resembling stellate reticulum; no cytological atypia

Ameloblastoma of follicular pattern, with acanthomatous change in the la

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8
Q

Ameloblastoma (conventional), key features and subtypes

A

Key features: Essential: location in jaws; islands/strands of odontogenic epithelium bounded by cuboidal/columnar cells with palisaded, hyperchromatic nuclei; reverse polarity (less marked in plexiform pattern); loose central epithelium resembling stellate reticulum; no cytological atypia

Subtypes: Follicular, plexiform, acanthomatous, granular, basaloid, desmoplastic

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9
Q

pleomorphic adenoma

common mutation

A

70% of tumors show either PLAG1 or HMGA2 rearrangements

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10
Q

Left cheek excisional bx

Dx:
Key features:
IHC:

A

Dx: Pleomorphic adenoma.
The classical histologic features are seen, with a chondromyxoid matrix blending imperceptibly with the myoepithelial cells and showing small ducts in the background.
PA are well-delinated/encapsulated and composed of an admixture of epithelial, myoepithelial (bilayered ducts) and mesenchymal components (stroma). The stroma can be mucoid, myxoid, hyalinized, chondroid, osseous or lipomatous. The MEC can be spindled/oncocytic/basaloid/plasmacytoid etc..

IHC: PLAG1 and HMGA2 respectively, are emerging as sensitive, and specific IHC markers for pleomorphic adenoma.

Immunoexpression of S100 and SOX10 helps to differentiate oncocytic PA from other oncocytic tumours

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11
Q

28F rapidly growing gingival lesion

Dx?
Key features?

A

Giant cell epulis

Nonencapsulated aggregates of foreign body giant cells and fibroangiomatous stroma with hemorrhage, hemosiderin, acute and chronic inflammatory cells
Alveolar bone often expanded in edentulous patients, leading to superficial bone loss with peripheral cuffing
Variable mitotic activity
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12
Q

neck lesion

Dx
Key features
DDx:

A

Thyroglossal duct cyst
Essential: Perihyoidal location
Desirable: Midline lesion; respiratory or squamous lined cyst with associated thyroid follicular epithelium

Differential Diagnosis: The entities include epidermal inclusion cyst, dermoid cyst, branchial cleft cyst, bronchogenic cyst, cervical thymic cyst, and metastatic PTC, which can usually be separated based on anatomic site of involvement, imaging findings, and pertinent histologic features.

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13
Q

Medullary thyroid carcinoma

Essential and desireable dx features
IHC profile:

A

Essential: Primary non-follicular cell-derived thyroid tumour with morphologic and immunohistochemical features of neuroendocrine derivation including expression of calcitonin and/or CEA.

Desirable: Lack of expression of thyroglobulin

IHC: Calcitonin (+; 95%); CEA (+), SYN/Chromo/NSE/INSM1 (+); TTF1(+); Thyroglobulin (-; calcitonin-gene-related-peptide (+)

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14
Q

thyroid lesion

dx?
IHC

A

Medullary thyroid carcinoma
IHC: calcitonin(+); CEA(+); chromo/synapt/NSE/INSM1(+); variable/(-) PAX8; TTF1(+)

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15
Q

adenoid cystic carcinoma

architectural patterns:
What to look out for?
Common molecular event:

A

cribriform, tubular and solid
For solid, minimum 30% solid growth req’d
PNI!

Many have t(6;9) chromosomal translocation resulting in MYB::NFIB fusion

MYB::NFIB fusion in 50-70%
MYBL1::NFIB fusion in up to 15%
MYB or MYBL1 gene fusions are detected in > 90% of ACC
Upregulation of MYB gene seen in fusion-negative cases
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16
Q

femal mouth lesion

Dx and features:
Key feature displayed in image

A

Polymorphous adenocarcinoma

Unencapsulated, although well circumscribed
Infiltrative growth
Incarcerated minor salivary glands
Significant perineural invasion
Striking variety of growth patterns
Eye of storm or whorled appearance
Concentric layering of cells around central nidus, creating targetoid tableau
Uniformly bland, round to polygonal or fusiform tumor cells
Slate blue-gray stroma usually only focal
Mitoses are infrequent

	DDx: adenoid cystic ca: Nuclei are peg-shaped, carrot-shaped, or angular, with hyperchromasia; cribriform architecture more common; Ki67 usu higher in PAC

Image: Native minor mucous glands are surrounded , but not destroyed, by the neoplastic infiltrate. This encasement or entombment is quite characteristic of PAC. This does not represent mucinous differentiation in the neoplastic cells.

Below: The neoplastic cells are separated by a characteristic slate blue-gray stroma

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17
Q

palate lesion

dx:
Key histo features
ddx:
px:

A

polymorphous adenocarcnoma, low-grade subtype

typically involve minor salivary glands (60% palate)

Unencapsulated, infiltrative growth (incarcerate minor salivary glands), Striking variety of growth patterns

Eye of storm or whorled appearance
Concentric layering of cells around central nidus, creating targetoid tableau

Slate blue-gray stroma usually only focal
Mitoses are infrequent

The neoplastic cells are separated by a characteristic slate blue-gray stroma . Reduplicated basement membrane material is also seen. The typical chondroid or myxochondroid stroma of pleomorphic adenoma is not seen in PAC.

Ddx: pleomorph adenoma, basal cell adenoma/carcinoma, adenoid cystic carcinoma (nuclei peg-shaped/carrot shaped;Ki67 usu higher)

Px: excellent long-term

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18
Q

cholesteatoma

key features

A

Keratinous material (keratin flakes; dead, anucleate keratin squames)
Stratified squamous epithelium with granular layer
Inflamed stroma with fibrous connective tissue

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19
Q

buccal lesion

dx

Key features

A

Irritation fibroma
Site: Most common along the bite line on the buccal mucosa (may be bilateral)
Also seen on the labial mucosa, tongue, palate and gingiva
Nonencapsulated nodular mass
Mass composed of fibrous connective tissue with collagen bundles interspersed with fibroblasts, blood vessels and scattered chronic inflammatory cells
Overlying surface of squamous epithelium

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20
Q

posterior nasal septum lesion

dx

key features

A

Respiratory epithelial adenomatoid hamartoma (REAH)

Proliferation (often polypoid) of medium sized glands lined by ciliated epithelium
Glands are surrounded by thick eosinophilic basement membranes
Lesion replaces background normal elements, often resulting in a decreased number of seromucinous glands
Features of chronic rhinosinusitis (chronic inflammation) and inflammatory sinonasal polyp
(edematous stroma admixed with chronic inflammation) may be seen in the background

Image: glands with cilia (green arrow) and thickened basement membrane

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21
Q

secretory ca (of parotid)

mutation?
IHC?

A

Harbours ETV6::NTRK3 or ETV6::RET fusion in most cases.
t(12;15) (p13;q25)
IHC: S100 and mammaglobbin (cyto +) (+)

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22
Q

cheek excision

dx?
Dx criteria
DDx and how to differentiated?
Key features demonstrated?
Molecular?

A

Secretory carcinoma

Essential: single cell type with vacuolated colloid-like secretory material; no zymogen cytoplasmic granules; IHC positivity for S100 protein, SOX10, and mammaglobin; lack of IHC staining for p40 and/or p63

Desirable: ETV6 or RET rearrangement demonstrated by FISH, RNA sequencing, or PCR

DDx: acinic cell carcinoma. In contrast to SC, acinic cell carcinomas demonstrate intense apical membranous staining for DOG1 around lumina and variable cytoplasmic positivity in most cases. Unlike acinic cell carcinoma, SC does not show true PAS-positive secretory zymogen cytoplasmic granules.

Approximately 90% of SC harbour a characteristic chromosomal rearrangement, t(12;15) (p13;q25) resulting in an ETV6::NTRK3 fusion

The tumour cells of SC have low-grade vesicular nuclei with finely granular chromatin and distinctive centrally located nucleoli, surrounded by pale pink granular or vacuolated cytoplasm.

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23
Q

Most common site of polymorphous adenocarcinoma?

A

Soft palate.
95% involves minor salivary glands

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24
Q

polymorphous adenocarcinoma

Molecular alteration?

A

Detection of PRKD1 p.Glu710Asp hotspot mutation or translocation of one of the PRKD1, PRKD2 or PRKD3 genes is highly specific for the diagnosis of PAC

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25
Q

soft palate lesion

Dx?
IHC?
Molecular?
Key features identified?
px?

A

Polymorphous adenocarcinoma
IHC: + for cytokeratins (e.g. CK7, in 100% of cases); + S100 protein (97% to 100%). Staining for p63 is reported in 78% to 100% of cases, whereas p40 is typically negative; this pattern is helpful in the differential diagnosis. Mammaglobin (+) (67% to 100%), CD117 (60%).

Molecular: Detection of PRKD1 p.Glu710Asp hotspot mutation or translocation of one of the PRKD1, PRKD2 or PRKD3 genes is highly specific for the diagnosis of PAC

The overall prognosis of PAC is excellent with a 10-year disease specific survival of 94 to 99%

Image: Various patterns, including tubules, trabeculae, microcysts, and cribriform architecture, are seen with a mucoid/myxoid background. The tumour is often arranged in a targetoid or streaming fashion in the periphery or around nerves.

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26
Q

polymorphous adenocarcinoma

subtypes + brief description

A

AC, the conventional subtype is typically an unencapsulated submucosal mass. The tumours are characterized by cytological uniformity, histological diversity, and an infiltrative growth pattern. Neoplastic cells are uniform in shape, with scant cytoplasm, bland oval nuclei, open chromatin, occasional small nucleoli and nuclear grooves.

PAC, cribriform subtype/cribriform adenocarcinoma of salivary gland (CASG). CASG is characterized by a multinodular growth pattern separated by fibrous septa, relatively uniform solid, cribriform and microcystic architecture, and optically clear nuclei. Glomeruloid and papillary structures, peripheral palisading and clefting is typically observed. CASG is associated with a propensity to base of tongue location, higher risk of lymph node metastasis, and higher frequency of PRKD gene rearrangement

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27
Q

base of tongue lesion

Dx?
Key features demonstrated

A

Polymorphous adenocarcinoma, cribriform subtype

Numerous patterns, with easily identified papillary structures and glomeruloid bodies. The nuclei show open chromatin. Fibrous connective tissue stroma is present.

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28
Q

adenoid cystic carcinoma vs polymorphous adenocarcinoma

localisation

A

Approximately 60% of AdCCs occur in the major and 30% in the minor salivary glands { 26476712 }. The parotid, submandibular, and minor glands of the palate are the predominant sites

vs

Over 95% of PAC involves minor salivary glands or seromucous glands of the upper aerodigestive tract with the palate being the most common site

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29
Q

adenoid cystic carcinoma

Key histo features
Growth patterns
High-grade features:

A

two main cell types, ductal and myoepithelial cells. The former cell type has eosinophilic cytoplasm and uniform round nuclei, and the latter has clear cytoplasm and hyperchromatic angular nuclei. Mitotic figures are infrequent. Perineural invasion is a hallmark of AdCC. Identification of both pseudocysts and true glandular lumina is usually required to make the diagnosis.

AdCC shows three growth patterns, tubular, cribriform, and solid.

High-grade features: Generally, AdCCs with >30% solid component pursue a more aggressive clinical course. In recent studies, the presence of any solid tumour component has been emphasized as an objective high-grade tumour marker

30
Q

adenoid cystic carcinoma

Molecular

A

Demonstration of MYB/MYBL1 rearrangements or gene fusions by FISH or other methods can help establish a diagnosis of AdCC

31
Q

adenoid cystic ca

IHC &
dx criteria

A

Pan-cytokeratin is strongly positive in ductal cells and weakly positive in myoepithelial cells. CK7 and KIT (CD117) are typically positive in ductal cells { 16140564 }, whereas p63, p40, calponin, and alpha-smooth muscle actin are positive in myoepithelial cells.

Essential: hyperchromatic, angulated nuclei, mixture of tubular, cribriform, and solid patterns associated with basophilic matrix and reduplicated basement membrane material.

Desirable: Perineural invasion; demonstration of MYB or MYBL1 rearrangements in selected cases

32
Q

pleomorphic adenoma

Three components
Common gene rearrangement

A
  1. ductular structures
  2. myoepithelial cells (can be spndled, epithelioid, plasmacytoid, etc..), intimately adixe with stroma
  3. Mesenchymal-like tissue (often myxoid stroma, but can be chondroid, etc…)
  4. architecturally pleomorphic (cytologically blandd)

PLAG1-HMGA2 fusions very common

33
Q

mucoepideroid carcinoma

Grading (AFIP)

A

PARAMETER

Intracystic component <20% +2
Neural invasion present +2
Necrosis present +3
Four or more mitoses per 10 HPF +3
Anaplasia +4

Low grade 0-4
Intermediate grade 5-6
High grade 7 or more

34
Q

cheek lesion

dx:
Key histo features
IHC
Molecular

A

Secretory carcinoma
Low-grade neoplasm; indolent malignancy
Wide age range: 21-75 yrs
Histo: infiltrative tumor border, fibrous septae, ..tumor cells charactersitically ahve an eosinophilic, vacuolated (bubbly) cytoplasm with round nuclei and minimal atypia, Abundant bluish to deep pink intraluminal secretions are usually present. mitoses are rare
IHC: strongly S100 +, SOX10+, mammaglobin +; (-) p40/63, DOG1,
Molecular: Approximately 90% of SC harbour a characteristic chromosomal rearrangement, t(12;15) (p13;q25) resulting in an ETV6::NTRK3 fusion

35
Q

65M rapidly growing cheek mass, facial paralysis

dx
Key features
IHC
px

A

salivary duct ca
Micro: Infiltrative lesion resembling DCIS with cribriform pattern is present (similar to breast ductal ca) +/- comedo-type necrosis. Invasive cells -> large cells with abundant eosinophilic cytoplasm and large, round nuclei with vesicula rchromatin and prominent nucleoli.
IHC: low/high CK, CEA, AR, HER2.
DDx: metastatic breast ca;

36
Q

42M cheek mass

dx
aetiology
ddx
diagnostic molecular path:

A

Lymphoepithelial carcionoma
EBV

Key features: nests of large anaplastic carcinoma cells within a lymphoid stroma.

LEC must be distinguished from large cell undifferentiated carcinoma, and metastasis from nasopharynx

EBERish

37
Q

rapidly growing cheek lesion

dx
key features
Subtypes:
IHC

A

Salivary duct carcinoma
Resembles mammary ductal carcinoma, most typically with apocrine (immuno)phenotype.
Display complex solid, cribriform, and papillary-cystic architecture with frequent comedonecrosis. Pleomorphic nuclei with coarse chromatin and prominent nucleoli, and abundant eosinophilic, typically apocrine cytoplasm { 25723113 ; 25871467 }. Lymphovascular and perineural invasion are common. A hyalinized nodule of a pre-existing PA may be present.
Subtypes: sarcomatoid; mucin–rich SDC; micropapillary SDC; basal-like; oncocytic; with rhabdoid features

IHC: AR is expressed in about 90% of SDCs, indicative of apocrine immunophenotype; Diffuse and strong immunoreactivity for ERBB2/HER2 (1/3 of cases). CK7 consistently (+), S100/SOX-10 (-).

38
Q

chronic sialadenitis

Key features:
DDX:

A

Key features:
Varying degrees of acinar destruction, fibrosis and chronic inflammation, with lymphoid aggregates containing prominent germinal centers
Ducts may undergo squamous and mucous metaplasia
Lobular arrangement is maintained
May see microliths

DDx:
Mucoepidermoid carcinoma (infiltrative growth pattern/complex architecture)
IgG4 related sialadenitis (
Lymphoepithelial sialadenitis (LESA)

39
Q

57M slow growing oral nodule

dx
Key features
common sites:

A

solitary circumscribed neuroma
Key features:
Well circumscribed, partially or completely encapsulated
Interlacing fascicles of plump spindle cells
Palisading is seen but may be subtle in areas
Nuclei are wavy and elongated
Not seen to arise from associated nerve
No mitotic activity is seen

	Sites: 90% of tumors are found in head and neck
40
Q

mucoepidermoid carcinoma

In one sentence, what is this entity? (histo features + molecular characteristic)

How do you grade this entity (WHO)?

Helpful IHC:

A

It is a malignant salivary gland neoplasm composed of mucous, intermediate and mucoepidermoid (squamous cells) showing variable cystic and solid components and ususally associated with MAML2 rearrangement.

Grading:
Histo feature + point value:
1) Cystic component < 25% 2
2) Neural invasion 2
3) Necrosis 3
4) 4 or more mitoses per 10hpf 3
5) anaplasia 4

Tumour grade:
Low grade (grade 1): 0-4
Intermediate grade (grade 2): 5-6
High grade (grade 3): 7 or more

IHC: p63/p40 (+); S100/SOX10 (-)

below: (low-grade MEC) Cystic spaces are partly lined by mucous cells. Other cell types include intermediate, squamoid and partly clear cells.

41
Q

circumscribed nodule parotid

dx and describe entity in one statement
Key features:
IHC

A

Basal cell adenoma
BCA is a benign biphasic salivary gland neoplasm composed of basaloid and luminal cells, and often containing basement membrane material.

Key features:
Encapsulated or well circumscribed and show tubulotrabecular, cribriform, membranous or solid growth. The tumour shows peripheral palisading of dark cells with luminal paler cells and ducts. Nuclei are vesicular.

IHC: Epithelial and myoepithelial markers highlight the dual cell composition. Coexpression of nuclear β-catenin and LEF-1 is detected in BCAs.

42
Q

oncocytic adenoma of thyroid

dx/definition
IHC

A

benign, non-invasive, encapsulated, follicular-cell-derived neoplasm composed of >75% oncocytic (Hürthle) cells.

If < 75% oncocytic cells, classified as follicular adenomas with oncocytic features

positive for PAX8 and TTF-1 and negative for calcitonin { 2428725 ; 10981870 ; 21552115 }. The cytoplasm and associated colloid of OA is positive for thyroglobulin { 10981870 }. There are no immunohistochemical stains that reliably distinguish OA from oncocytic carcinoma.

43
Q

tongue lesion

dx
key features
common sites

A

Giatn cell fibroma
Key features:
Varying numbers of large, plump angular and stellate fibroblasts that may demonstrate multiple nuclei in the superficial connective tissue.
Proliferation of collagen bundles
Overlying surface epithelium with narrow and elongated epithelial rete ridges
Absence of inflammation

Most common location is the gingiva followed by the tongue, palate, buccal mucosa and lip

44
Q

gingival lesion

dx
Key features
IHC

A

Odontogenic fibroma
Consists of variably cellular fibrocollagenous tissue with scattered, small, inactive odontogenic epithelium in strands, cords or nests
Calcification can be seen in association with odontogenic epithelium and when extensive could consider classification as ossifying variant of odontogenic fibroma
IHC: epithelium (+) for AE1/AE3, CK 14, CK19
DDx:
ameloblastic fibroma (below); desmoplastic fibroma;

45
Q

gingival nodule

dx
Key features

A

Peripheral ossifying fibroma.
Features: spindle cell proliferation with calcificationor ossificaiton in gingial connective tissue (subepithelial stroma).

NB: dystrophic calcs OR lamellar bone OR woven bone is ESSENTIAL for dx.

Surface epithelium maybe ulcerated

46
Q

mandible lesion

dx
key features

A

Odontogenic keratocyst
Mandible = most common site.
Normally incidentally discovered on XRs (can cuase local bone and soft tissue destruction).

Key features:
Uniform epithelial lining 6-8 cells thick lacking rete ridges. Epithelium characterised by palisaded hyperchromatic basal cell layer comprised of cuboidal to columnar cells. Luminal surface has “wavy”/corrugated parakeratotic epithelial cells.

47
Q

tooth cyst

dx?
Key features?
Dx criteria

A

Radicular cyst.
Key features: lined by non-keratinized stratified squamous epithelium, that is proliferative with a characteristic arcading pattern. Hyaline (Rushton) bodies, mucous (goblet) cells or small areas of keratinization are not uncommon { 27957265 ; 25859536 }. The wall is composed of inflamed fibrous tissue, often with foamy histiocytes. Deposits of cholesterol crystals (clefts) with foreign body giant cells are often seen and may form luminal nodules.

Dx criteria: Essential: Non-vital tooth; cyst lined by non-keratinising epithelium.

Below: A cluster of hyaline (Rushton) bodies forms a small nodule in the epithelial lining, indicating an odontogenic cyst.

48
Q

dentigerous cyst

dx criteria
ddx

A

Essential: well-defined radiolucency associated with the crown of an unerupted tooth; epithelium and cyst wall attached to the cementoenamel junction of unerupted tooth

Differential Diagnosis: Inflamed dentigerous cysts show hyperplasia and thickening of the lining epithelium and often foamy macrophages and cholesterol clefts associated with foreign body giant cells { 23278191 ; 30175860 }, and come to resemble radicular cysts histopathologically.

49
Q

tooth cyst

dx?
Key features

A

Odontogenic keratocyst
The odontogenic keratocyst (OKC) is a developmental odontogenic cyst that is characterized histologically by a thin (corrugated) parakeratinzed stratified squamous epithelial lining (approximately 4-8 cells thick), typically w/o rete pegs, with palisaded and hyperchromatic basal cells and clinically by a tendency to recur after treatment.
Below: Cyst wall lined by uniform epithelium stratified squamous type without rete ridges but with hyperchromatic palisaded basal cell nuclei and characteristic corrugated surface parakeratin.

50
Q

upper lip lesion

Dx
Key features
IHC

A

Canalicular adenoma (benign)

Essential: minor salivary gland location; monotonous, isomorphic syncytium of cuboidal to columnar cells anastomosing in a lattice of cords and canaliculi; no basal/myoepithelial layer

IHC: (+) pancytokeratin, CK7, S100 protein, SOX10, and CD117. (-) DOG1, desmin, and actins. There is a characteristic linear peripheral GFAP immunoreactivity.

Above photo: Low power demonstrates the interlacing canals and ribbons of neoplastic cuboidal-columnar cells separated by a loose, oedematous stroma.

Below: Adjacent ribbons of cells come together and form a knot (called “beading”), a feature quite characteristic of canalicular adenoma.

51
Q

44M/F parotid mass

dx?
IHC:
DDx:

Below: well, circumscribed, encapsulated apperance

A

above image: Epitheloid and plasmacytoid myoepithelial cells.

DX: myoepithelioma

Essential: almost exclusive myoepithelial differentiation and absence of invasion
Desirable: tumour encapsulation (except in minor salivary glands)

IHC: positive for keratins, S100, SOX10, and myoepithelial markers such as p63, calponin, and SMA.

DDx: Differential Diagnosis: The tumour’s well-defined borders and lack of an invasive growth distinguish ME from myoepithelial carcinoma (MECA) { 25970687 ; 30789358 }. The characteristic basaloid biphasic pattern, peripheral palisading, and minimal to absent myxoid stroma of basal cell adenoma help to separate it from ME. Monomorphic histology and rare or absent ductal structures in ME differentiate it from pleomorphic adenoma { 19926180 ; 33231965 }. Differentiation from soft tissue ME may be difficult given overlapping histological features and the presence of PLAG1 gene rearrangements in both { 23630011 }.

Below: Salivary gland myoepithelioma, spindle cell with adipose metaplasia

52
Q

33M jaw swelling/lesion mandible

dx?
Key features

A

Cemento-ossifying fibroma/ossifying fibroma

Key features:
Well defined lesion; may have thin fibrous capsule
Lesion consists of variable proportion of fibrous and mineralized tissue
Osteoblastic rimming of bone trabeculae is frequent
Stroma is fibroblastic with areas of hypercellularity and nuclear hyperchromasia
No significant atypia and mitoses are infrequent
Woven to lamellar bone, osteoid and dense acellular or paucicellular basophilic rounded cementum-like calcifications may all be present

53
Q

cheek excision 60M

dx?
ddx?
Key features
Molecular

A

Mucoepidermoid carcinoma
Key features: multiple cell types (mucous, intermediate epidermoid/squamoid cells).
DDx: (with low-grade) mucocele, necrotizing sialometaplasia, sclerosing sialadenitis with mucous metaplasia, pleomorphic adenoma and Warthin tumour with oncocytic or squamous metaplasia, sclerosing polycystic adenoma, and secretory carcinoma.
Molecular: MAML2 rearrangement

54
Q

cheek lesion 75F

dx?

A

Mucoepidermoid carcinoma with warthin-like pattern (lacks the well organised, double-layered oncocytic epithelium of that lesion)

55
Q

Mucoepidermoid carcinoma

grading criteria

A

WHO
cystic component < 25% 2
Neural invasion 2
Necrosis 3
4 or more mitoses/10hpf 3
Anaplasia 4

Tumour grade:
Low (Gr 1): 0-4
Intermediate (Gr 2): 5-6
High (Gr 3): 7 or more

56
Q

60M facial nerve paralysis

dx
key histo features
IHC
Molecular

A

Adenoid cystic carcinoma
Myoepithelial and ductal cells. Demonstration of true lumina and pseudocyts; PNI is hallmark.
IHC: epi cells pan-CK/CK7/CD117 (+); MEC S100 patchy, p63/p40 (+) (c.f. polymorphous carcinoma S100 S/D +; p63+, p40 -)

Molecular: MYB, MYBL1, or NFIB gene rearrangements are diagnostic of adenoid cystic carcinoma

Image:
Myoepithelial tumour cells with clear cytoplasm and angular nuclei surround multiple cyst-like areas (pseudocysts) that are contiguous with the stroma of the neoplasm (arrow). Small lumen surrounded by eosinophilic, cuboidal cells (asterisk) indicates a focus of true ductal differentiation.

57
Q

57F cheek mass

dx:
IHC:
Molecular

A

acinic cell carcinoma
IHC: DOG1/SOX10+; no MEC differentiation -> (-) for p40/p63, S100 may stain intercalateducts; mammaglobin (-)

Molecular: NR4A3 rearrangement

58
Q

65M cheek mass

Dx?
Essential and desireable dx criteria?

A
59
Q

46F parotid mass

dx
Key features demonstrated
Confirmatory IHC
Molecular

A

Secretory carcinoma
SC has a prominent fibrosclerotic stroma and solid/microcystic structure. The tumor cells have bland vesicular round to oval nuclei, and distinctive centrally located nucleoli.
Single cell type with vacuolated colloid-like secretory material; no zymogen cytoplasmic granules;

IHC positivity for S100 protein, SOX10, and mammaglobin; lack of IHC staining for p40 and/or p63

Desirable: ETV6 or RET rearrangement demonstrated by FISH, RNA sequencing, or PCR

60
Q

60M cheek lesion

dx
Key features
IHC

A

salivary duct carcinoma
Aggressive carcinoma resembling mammary ductal carcinoma, most typically with apocrine (immuno)phenotype.
Key features: frequent comedonecrosis. The cells have large pleomorphic nuclei with coarse chromatin and prominent nucleoli, and abundant eosinophilic, typically apocrine cytoplasm. Lymphovascular and perineural invasion are common.A hyalinized nodule of a pre-existing PA may be present. Rarely, SDC may be purely in situ.

IHC: AR(+, indicative or apocrine phenotype); mammaglobin (+),

61
Q

slow growing right facial mass. 70M

dx
Key features
IHC

A

Epithelial-myoepithelial carcinoma

Essential: usually multinodular invasive growth; at least partly with a dual arrangement of inner ductal cells and outer prominent, and usually clear, myoepithelial cells

IHC: Ductal cells – CK7/EMA (+), occasionally S100; MEC: (var) CK (+); S100 (S), SMA, p63,p40, calponin (+)

Below image: demonstrating multinodular invasive growth.

62
Q

2month infant facial swelling

dx
Key and desireable dx criteria

A

sialoblastoma

Essential: primitive, solid, organoid nests, basaloid epithelial cells with vesicular chromatin, and cuboidal to columnar ductal cells

Desirable: dividing fibrous stroma and peripheral palisading

63
Q

base of tongue lesion

dx
Key and desireable dx features

A

Hyalinising clear cell carcinoma

Essential: nests, cords, and trabeculae of clear and/or eosinophilic cells in a hyalinized stroma

Desirable: EWSR1 fusion in selected cases

64
Q

slow growing mass right cheek

dx
Key features demonstrated
IHC

A

Pleomorphic adenoma
Key features: The classical histologic features are seen, with a chondromyxoid matrix blending imperceptibly with the myoepithelial cells and showing small ducts in the background.

IHC:

65
Q

50M submandibular mass

dx?

A

Pleomorphic adenoma with a prominent spindled cell myoepithelial component illustrated. Focal squamous metaplasia is present.

66
Q

cheek mass

A

Basal cell adenoma

67
Q

35M H/O solid organ transplant. Nasal congestion

dx
causes and how to differentiate

A

Invasive fungal rhinosinusitis
Fungal hyphae in mucosa, submucosa, vessels and bone

Zygomycetes: broad nonseptate hyphae branching at 90 degrees
Aspergillus: slender septate hyphae branching at 45 degrees
68
Q

mucocele

difference between extravasation mucocele vs mucus retention cyst

A

Retention mucoceles have an epithelial lining whereas extravasation mucoceles do not

69
Q

52M deep cystic lesion cheek

Dx?
Key features?
IHC?
Molecular?
Px

A

Secretory carcinoma

Circumscribed/infiltrative margin; solid/cystic/ Pale eosinophilic colloid-like intraluminal secretions; secretions are periodic acid-Schiff (PAS) reagent positive and diastase resistant

Tumor cells have eosinophilic or vacuolated cytoplasm and monomorphic round vesicular nuclei with small but distinctive nucleoli

ICH: (+) CK7/GATA3/S100/SOX10/MUC4/Mammaglobin

Molecular: characterized by ETV6 gene rearrangement

PX: Generally low grade with indolent clinical behavior; however, local lymph node metastases may be seen in up to 22%

NB: acinic cell carcinoma GATA3-, PASD zyogen granules - ; MUC4-; DOG1+
MEC: p63+; mammaglobin/S100-
PAC usu minor salivary glands; p63+, GATA3-

70
Q

SCUH

Essential and desireable dx criteria?
Frequent mutations?

Behaviour

A

Essential: a high-grade tumour with cytokeratin-positive tumour cells; no histological or immunohistochemical evidence of any specific line of differentiation; all histological mimics (see above) excluded.

Desirable: verification of IDH mutation status (in selected cases).

Dx of exclusion.

IDH2 hotspot mutations are identified in a significant subset of cases (33–85%) { 28084339 ; 28493366 ; 29683816 ; 31876581 }. IDH2 p.R172S is most common;

Aggressive.

71
Q

salivary glands

List benign epithelial neoplasms

A

Pleomorphic adenoma

Basal cell adenoma

Warthin tumour

Oncocytoma

Salivary gland myoepithelioma

Canalicular adenoma

Cystadenoma of the salivary glands

Ductal papillomas

Sialadenoma papilliferum

Lymphadenoma

Sebaceous adenoma

Intercalated duct adenoma and hyperplasia

Striated duct adenoma

Sclerosing polycystic adenoma

Keratocystoma

72
Q

salivary glands

List malignant epithelial lesions

A

Mucoepidermoid carcinoma

Adenoid cystic carcinoma

Acinic cell carcinoma

Secretory carcinoma

Microsecretory adenocarcinoma

Polymorphous adenocarcinoma

Hyalinizing clear cell carcinoma

Basal cell adenocarcinoma

Intraductal carcinoma

Salivary duct carcinoma

Myoepithelial carcinoma

Epithelial-myoepithelial carcinoma

Mucinous adenocarcinoma

Sclerosing microcystic adenocarcinoma

Carcinoma ex pleomorphic adenoma

Carcinosarcoma of the salivary glands

Sebaceous adenocarcinoma

Lymphoepithelial carcinoma

Squamous cell carcinoma

Sialoblastoma

Salivary gland carcinoma NOS