Head and neck pathology Flashcards
70M, cheek lesion. PHx smoker
Dx:
Key features:
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.
Name the three types of nasal papillomas
Inverted, oncocytic, exophytic
nasal lesion.
Dx?
Key features?
Sinonasal papilloma, inverted type
Predominantly endophytic non-destructive growth; ribbons/nests of hyperplastic, immature squamous epithelium; transmigrating intraepithelial neutrophilic inflammation.
Right nasal septum lesion
Dx?
Key features?
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.
nasal lesion.
Dx?
Key features?
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.
left lower nasal septum lesion
Dx?
Key features?
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
mandibular biopsy
Dx?
Key features?
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
Ameloblastoma (conventional), key features and subtypes
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
pleomorphic adenoma
common mutation
70% of tumors show either PLAG1 or HMGA2 rearrangements
Left cheek excisional bx
Dx:
Key features:
IHC:
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
28F rapidly growing gingival lesion
Dx?
Key features?
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
neck lesion
Dx
Key features
DDx:
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.
Medullary thyroid carcinoma
Essential and desireable dx features
IHC profile:
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 (+)
thyroid lesion
dx?
IHC
Medullary thyroid carcinoma
IHC: calcitonin(+); CEA(+); chromo/synapt/NSE/INSM1(+); variable/(-) PAX8; TTF1(+)
adenoid cystic carcinoma
architectural patterns:
What to look out for?
Common molecular event:
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
femal mouth lesion
Dx and features:
Key feature displayed in image
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
palate lesion
dx:
Key histo features
ddx:
px:
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
cholesteatoma
key features
Keratinous material (keratin flakes; dead, anucleate keratin squames)
Stratified squamous epithelium with granular layer
Inflamed stroma with fibrous connective tissue
buccal lesion
dx
Key features
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
posterior nasal septum lesion
dx
key features
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
secretory ca (of parotid)
mutation?
IHC?
Harbours ETV6::NTRK3 or ETV6::RET fusion in most cases.
t(12;15) (p13;q25)
IHC: S100 and mammaglobbin (cyto +) (+)
cheek excision
dx?
Dx criteria
DDx and how to differentiated?
Key features demonstrated?
Molecular?
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.
Most common site of polymorphous adenocarcinoma?
Soft palate.
95% involves minor salivary glands
polymorphous adenocarcinoma
Molecular alteration?
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
soft palate lesion
Dx?
IHC?
Molecular?
Key features identified?
px?
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.
polymorphous adenocarcinoma
subtypes + brief description
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
base of tongue lesion
Dx?
Key features demonstrated
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.
adenoid cystic carcinoma vs polymorphous adenocarcinoma
localisation
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
adenoid cystic carcinoma
Key histo features
Growth patterns
High-grade features:
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
adenoid cystic carcinoma
Molecular
Demonstration of MYB/MYBL1 rearrangements or gene fusions by FISH or other methods can help establish a diagnosis of AdCC