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AP/CP Boards > Head and Neck > Flashcards

Head and Neck Flashcards

1
Q

Cause

Gender

Age

IF

A

Lichen Planus

  • Autoimmune mucositis
  • F>M
  • Young adult – middle age at presentation
  • Usually asymptomatic
  • Reticular pattern of raised, white (hyperkeratotic) streaks on red background (Wickham’s striae)
  • Sawtooth rete ridges
  • Band-like subepithelial chronic inflammatory infiltrate
  • IF: granular fibrinogen at basement membrane
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2
Q

Cause

Age

Gender

Location

Prognosis

A

Squamous Cell Carcinoma Non-Keratinizing

  • Oropharynx (base of tongue, tonsil)
  • Related to HPV-infection (High Risk 16, 18, 31, 33)
  • Men
  • age 50s-60s
  • cystic lymph node metastases
  • Good prognosis
  • p16 positive
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3
Q

Cause

Age

Gender

Stains

A

Nasopharyngeal (Lymphoepithelial) Carcinoma

  • High prevalence in: Hong Kong, China, Southeast Asia, North Africa, Arctic
  • EBV exposure, nitrosamine ingestion
  • M > F
  • Age > 30
  • Presentation: Epistaxis, Otitis media, Neck metastases
  • Can be thought of as a variant of squamous cell carcinoma
  • p63/p40+, HMWK+
  • Keratinizing
    • Not associated with EBV
  • NON-keratinizing
    • syncitial growth w/ inflammatory infiltrate
    • USUALLY EBV+
    • Somewhat more radiosensitive
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4
Q

Mandible & Maxilla

  • __ Related Osteonecrosis of Jaw
  • Odontogenic Lesions
  • Mesenchymal Neoplasms
A

Mandible & Maxilla

  • Bisphosphonate Related Osteonecrosis of Jaw
  • Odontogenic Lesions
    • DC vs OKC
    • Ameloblastoma
  • Mesenchymal Neoplasms
    • Osteoma
    • Osteosarcoma
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5
Q
A

Bisphosphonate Related Osteonecrosis of Jaw

  • Tenderness and exposed bone in posterior mandible
  • Triad of Acute osteomyelitis, Osteonecrosis, Oral flora colonization
  • Secondary to bisphosphonate use (for tumor, osteoporosis):
    • Alendronate (Fosamax®), Risedronate (Actonel®), Ibandronate (Boniva®), Pamidronate (Aredia®), Zolendronate (Zometa®) (Reclast®), Denosumab (Xgeva®) (Prolia®)
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6
Q

Odontogenic Cysts around the crown of an unerupted tooth, DDx includes:

A

Odontogenic Cysts around the crown of an unerupted tooth, DDx includes:

  • Dentigerous Cyst
  • Odontogenic Keratocyst (OKC)
  • Cystic Ameloblastoma
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7
Q
A

Odontogenic Keratocyst

  • Gorlin – AKA – Nevoid BCC Syndrome
    • AD, Gene: PTCH, Chromosome: 9q22.3
    • Odontogenic Keratocysts / “Gorlin cysts”
    • Multiple BCCs (even on non-sun exposed skin)
    • Medulloblastomas
    • Palmar / plantar pits
    • Skeletal anomalies
  • Features of OKC squamous epithelium
    • 5-7 cells thin
    • Palisaded basal layer (fence)
    • Corrugated surface (cardboard)
    • May have daughter cysts in wall, leads to recurrence
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8
Q
A

Dentigerous cyst

  • Proliferative squamous lining
  • Inflammation
  • OKC can look like this but with only focal diagnostic lining – look carefully!
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9
Q
A

Ameloblastoma

  • Can be cystic or solid
  • Solid: Large epithelial nests
    • Recapitulates tooth development
    • Peripheral reverse polarity (nuclei away from basement membrane)
    • Central stellate reticulum
  • Locally destructive, requires hemimandibulectomy
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10
Q
A

Odontoma

  • Gardner AKA variant of FAP
    • APC gene Chr 5q21
    • Colonic polyposis / carcinoma
    • Osteomas of the skull
    • Desmoid tumors (fibromatosis)
    • Thyroid cancer
    • Epidermoid cysts
    • Sebaceous cysts
  • Osteomas in general
    • comprised of compact cortical bone with little stroma
    • Most frequent in frontal / ethmoid sinus
    • 70-90% of patients with MULTIPLE osteomas have Gardner syndrome
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11
Q

Nose & Paranasal Sinuses & Nasopharynx

A

Nose & Paranasal Sinuses & Nasopharynx

  • Sinusitis
    • Fungal: Mycetoma, Allergic Sinusitis, Invasive Sinusitis, Rhinosporidiosis (vs. Rhinoscleroma)
  • Granulomatosis with polyangiitis
  • Tumors & Tumor-like lesions
    • Inflammatory Polyp
    • Respiratory Epithelial Adenomatoid Hamartoma
    • Schneiderian Papilloma
    • Nasopharyngeal Angiofibroma
    • Sinonasal Adenocarcinoma
    • High Grade Tumor Differential (SNUC, etc)
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12
Q
A

Granulomatosis with Polyangiitis

Systemic necrotizing vasculitis

Respiratory tract +/- glomerulonephritis

c-ANCA+ in 50-90%

Treatment with immunosuppression

Histology

Granulomas

Vasculitis

Neutrophilic microabscesses

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13
Q

Sinonasal Tumors

  • Most common site is:
  • Followed by:
A

Sinonasal Tumors

  • Most common site is:
    • Maxillary sinus 60%
  • Followed by:
    • Nasal cavity 20-30%
    • Ethmoid sinus 10-15%
    • Sphenoid sinus 1%
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14
Q
A

Inflammatory Polyp

  • NON-neoplastic
  • Chronic sinusitis
    • Cystic fibrosis in kids
  • Lateral nasal wall masses
  • Thick basement membrane
  • Myxoid stroma with Eos
    • Atypical stromal fibroblasts
  • Cystically dilated glands
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15
Q
A

Respiratory Epithelial Adenomatoid Hamartoma

  • Benign NON-neoplastic hamartoma
  • Adult Males
  • Posterior nasal septum
  • Proliferation of respiratory glands w/ goblet cells
    • Surface invaginations
    • Stromal hyalinization / thick basement membrane
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16
Q

Schneiderian Papilloma subtypes

  • Gender
  • Age
  • Location
  • Histology
  • Cancer %
A

Schneiderian Papilloma subtypes

  • Classic Inverted Type
    • M > F
    • Age: 40-70
    • Location: lateral nasal wall
    • Histology: Predominantly endophytic growth, Neutrophilic microabscesses in epithelium
    • Cancer: 30%
  • Oncocytic Type (“cylindrical cell”)
    • M = F
    • Age: > 50
    • Location: lateral nasal wall
    • Histology: Endophytic and exophytic growth, microcysts in epithelium
    • Cancer: 20%
  • Exophytic Type (“fungiform”)
    • M > F
    • Age: < 50
    • Location: nasal septum
    • Histology: Predominantly exophytic growth
    • Cancer: rare
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17
Q
A

Inverted Schneiderian Papilloma

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18
Q
A

Oncocytic Schneiderian Papilloma

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19
Q
A
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20
Q

2 Subtypes

  • Gender
  • Risk factors
  • Type/Location
  • IHC
  • Histology
A

Sinonasal Adenocarcinoma

Non-intestinal Type (Non-ITAC)

  • Gender: M > F
  • Risk factors: none
  • Type/Location:
    • Low grade: ethmoid sinus
    • High grade: maxillary sinus
  • IHC: CK20-, CDX2-, CK7+
  • Small back to back glands, Round to oval nuclei

Intestinal Type (ITAC)

  • Gender: M > F
  • Occupational: wood and leather dust exposure
  • Type/Location:
    • Most common type is colonic (int grade)
    • Most common location is ethmoid sinus
  • IHC: CK20+, CDX2+, CK7 var
  • Large dilated glands, Dark elongated nuclei
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21
Q
A

Nasopharyngeal Angiofibroma

  • Adolescent Males
  • FAP patients
  • Slit-like blood vessels
  • Clinically bloody
  • Surrounded by dense eosinophilic fibrous stroma with bland spindle cells
  • AR+ / Beta-catenin +
  • Surgery +/- Embolization
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22
Q
A

HPC-like tumor of sinonasal cavity

  • Mean age 60s
  • Monotonous spindled to oval cells
  • Rich vasculature – Staghorn-like with prominent perivascular hyalinization
  • SMA+, CD34-
  • Surgical excision
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23
Q
A

Low-grade Sinonasal Sarcoma With Neural and Myogenic Features

  • Monotonous, cellular spindle cell neoplasm
  • Infiltrative
  • S-100 +
  • SMA +
  • t(2;4) in 2 tested cases
  • Locally aggressive but no metastases
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24
Q
A
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25
Q
A
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26
Q
A
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27
Q
A

NUT Midline Carcinoma

  • Head & Neck (35%) and Mediastinum
  • High grade carcinoma with squamoid features
    • May be keratin / p63 positive
  • Primitive, monotonous cells with:
    • Round nuclei, nucleoli
    • Amphophilic to clear cytoplasm
    • Occasional abrupt squamous differentiation
  • NUT;BRD4 or 3 translocation (IHC/FISH)
  • Median survival < 1 year
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28
Q
A
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29
Q

Larynx

  • Most common benign tumor
  • Most common malignant tumor
  • Most common neuroendocrine tumor
  • Most common sarcoma
A

Larynx

  • Most common benign tumor – Papilloma
  • Most common malignant tumor – SCC
  • Most common neuroendocrine tumor – Atypical carcinoid
  • Most common sarcoma – Chondrosarcoma
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30
Q
A

Squamous Papilloma

  • Low Risk HPV 6/11
  • Single
    • Adult Males
  • Multiple
    • Children
    • “Recurrent respiratory papillomatosis”
    • Acquired in birth canal of mother
    • Multiple throughout larynx, tracheobronchial tree
  • Occasionally lead to SCC, more so with radiation/smoking
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31
Q

Epidemiology of laryngeal SCC

  • Gender
  • Age
  • Risk factors
  • Most common site
  • Prognosis
A

Epidemiology of laryngeal SCC

  • M > F
  • Age 50s-60s
  • Tobacco, Alcohol
  • Most common site:
    • Glottis (in US)
    • Supraglottis (in most of western Europe)
  • Prognosis: Stage-dependent
    • Cartilage invasion / bulky tumour volume → poor response to chemoradiotherapy
    • Histologic grade has limited impact
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32
Q
A

Neuroendocrine Tumors of Larynx

  • Atypical carcinoid is most common
    • M>F
    • a/w smoking
    • Most common in supraglottis
    • 50% nodal and distant mets
    • Surgery (chemo/radio insensitive)
    • Keratin +, Synap +, CMG +
    • May have: Calcitonin +, mCEA +, TTF-1 RARE
  • Small cell carcinoma is second most common
  • Rare: paragangliomas, typical carcinoids
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33
Q

Neuroendocrine Tumors of Larynx

  • Carcinoid:
  • Atypical Carcinoid:
  • Small Cell Carcinoma:
A

Neuroendocrine Tumors of Larynx

  • Carcinoid:
    • <2 mitoses/10 hpf
    • No nucleoli, pleomorphism, necrosis
  • Atypical Carcinoid:
    • 2-10 mitoses/10 hpf
    • Nucleoli present
    • Mild pleomorphism
  • Small Cell Carcinoma:
    • >10 mitoses/10 hpf
    • No nucleoli
    • Necrosis
34
Q

Laryngeal Sarcomas

A

Laryngeal Sarcomas

  • Chondrosarcoma is most common
    • Rare but more common than benign chondroma
  • Most common in cricoid cartilage
  • Age 40+
  • Usually low-int grade, low metastatic rate, curable by excision with clean margins
35
Q

Salivary Glands (most common)

  • Benign Tumors
  • Malignant Tumors
A

Salivary Glands

  • Sialometaplasia

Benign Tumors

  • Pleomorphic Adenoma
    • Most common tumor
    • Most common benign tumor
  • Warthin tumor
    • Second most common benign tumor

Malignant Tumors

  • Mucoepidermoid carcinoma
    • Most common malignant tumor
  • Adenoid Cystic
    • Second most common malignant tumor
37
Q
A

Necrotizing Sialometaplasia

  • Most common in palate
  • Frequent ulceration
  • ? Ischemia
    • following surgery, radiation
  • Lobular configuration maintained
  • Ductal structures
    • With lumina, +/- mucinous cells, intraluminal necrosis
38
Q

Salivary Gland Tumor Trends

  • Most common location of all tumors:
  • Site with highest rate of malignant tumors:
  • Salivary gland carcinomas = __% of head & neck cancers
  • The most common:
    • Tumor =
    • Benign tumor = __ > __
    • Malignant tumor = __ > __
A

Tumor Trends

  • Benign tumors occur more often than malignant tumors
  • Most common location of all tumors: Parotid
  • Site with highest rate of malignant tumors: Sublingual
  • Salivary gland carcinomas = 6% of head & neck cancers
  • The most common:
    • Tumor = Pleomorphic adenoma
    • Benign tumor = Pleomorphic adenoma > Warthin
    • Malignant tumor = Mucoepidermoid > Adenoid Cystic
39
Q

Most common:

  • Tumor in parotid gland, submandibular gland, and minor salivary glands:
  • Tumor in sublingual gland:
  • Sarcoma:
  • Tumor in children <16:
  • Met to Parotid (1° infraclavicular):
  • Met to Parotid (1° supraclavicular):
  • Met to Submandibular:
A

Most common:

  • Tumor in parotid gland, submandibular gland, and minor salivary glands: PA
  • Tumor in sublingual gland: Adenoid cystic and CA-exPA
  • Sarcoma: Rhabdomyosarcoma
  • Tumor in children <16: Hemangioma
  • Met to Parotid (1° infraclavicular): Lung, Kidney
  • Met to Parotid (1° supraclavicular): SCC
  • Met to Submandibular: Breast
42
Q
A

Mucoepidermoid Carcinoma

44
Q
A

Adenoid cystic

45
Q
A

Mammary Analog Secretory CA

  • Resembles secretory carcinoma of breast:
  • Stains with Mammaglobin and S-100
  • Carries same translocation (>90%):
    • ETV6-NTRK3 -> tyrosine kinase fusion protein (absent in Acinic Cell)
  • Can undergo high grade transformation
46
Q

What salivary gland tumors can stain with S100?

A

Salivary gland tumors that can stain with S100:

  • MASC
  • PLGA
  • LGCC
47
Q
A

Polymorphous Low Grade Adenocarcinoma

  • Epidemiology:
    • Most common location is palate
    • But most common tumor in palate is NOT PLGA (adenoid cystic)
  • Histology:
    • Single cell type
      • Pale oval nuclei (compare to AdCC)
    • Various architectural patterns (polymorphous)
      • Lobular, papillary, cystic, cribriform, trabecular, ductal, single file, whorling
    • Infiltrative growth pattern
  • S-100+
  • PRKD1 mutation
48
Q
A

Low Grade Cribriform Cystadenocarcinoma

  • Resembles low grade ductal lesions of breast (ADH, low grade DCIS)
  • Formerly thought to be the low grade counterpart of salivary duct carcinoma
    • Not been proven
    • No Her-2-neu amplification
  • Few cases, Excellent prognosis
  • S-100+
49
Q
A

Salivary Duct Carcinoma

  • Epidemiology:
    • De novo or Ca-ex-PA
    • Aggressive
  • Histology:
    • Resembles high grade ductal carcinoma of breast: large nests with peripheral cribriforming and central necrosis
    • PNI and LVI are common
  • Androgen Receptor +
  • Although ER/PR neg
  • Genetics:
    • Her-2-neu amplification in some
50
Q
A

Hyalinizing Clear Cell Carcinoma

  • Epidemiology:
    • Intraoral minor salivary glands
  • Histology:
    • Monomorphous, clear cells with wrinkled nuclei
    • Pink hyaline stroma: thin septae or dense bands
  • IHC:
    • Pos: Keratin, HMWK, p63/p40
    • Neg for other myoep markers: S-100, GFAP, SMA, calponin
  • Genetics:
    • EWSR-ATF1
    • Identical to clear cell odontogenic carcinoma
51
Q

Ear and Temporal Bone lesions

A

Ear & Temporal Bone

  • Cholesteatoma
  • Tumors
    • Jugulotympanic Paraganglioma
    • Middle Ear Adenoma
    • Ceruminous Adenoma
    • Papillary Endolymphatic Sac Tumor
52
Q
A

Cholesteatoma

  • Squamous epithelium from external canal migrates onto eardrum
  • Destructive invasion into drum / mastoid
  • Related to chronic infections
  • Morbidity if deep into skull
53
Q
A

Jugulotympanic Paraganglioma

  • Most common tumor of middle ear
  • NE markers +
  • Keratin –
  • S-100 + sustentacular cells
  • May be locally infiltrative
55
Q
A

Papillary Endolymphatic Sac Tumor

  • Inner ear (temporal bone)
  • Associated with VHL
    • Hemangioblastomas, renal cysts and tumors, pancreatic cysts and tumors, pheochromocytomas, epididymal / ovarian cystadenomas
  • Hearing loss
  • Local invasion
  • No metastasis
56
Q

Arising in ovary

A

Papillary Thyroid Carcinoma Arising in Struma Ovarii

  • rare, no current consensus as to how to treat
  • Struma ovarii is a specialized monodermal teratoma that is composed predominately of thyroid tissue
  • hyperthyroidism in 5% to 8%
  • 5% to 10% are malignant (ID’d post surgery)
  • PTC most common carcinoma
    • same BRAF mutation
57
Q
A

tall cell variant of papillary carcinoma

59
Q

Thyroid, diagnosis?

A

Radioactive iodine treatment

  • Nuclear changes occur in thyroid follicular epithelial cells following administration of radioactive iodine.
  • Propylthiouracil, potassium iodide, and β-blockers do not usually produce nuclear abnormalities.
  • Nuclear abnormalities may be found in Hashimoto thyroiditis.
  • Histologic features of Hashimoto thyroiditis, such as oxyphil metaplasia, fibrosis, and significant/destructive chronic inflammation, are not characteristic of radioactive iodine treatment.
  • Optically clear nuclei, which characterize papillary thyroid carcinoma, are not a feature of radioactive iodine treatment.
61
Q

5 aggressive forms of PTC?

A

Aggressive forms of PTC

  • tall cell variant
  • diffuse sclerosing
  • columnar cell
  • solid
  • PTC with prominent hobnail features
63
Q

Thyroid Mutations

A

PTC

  • BRAF (BRAFV600E)
  • RAS genes (HRAS and NRAS)
  • RET/PTC translocations (RET/PTC1 and RET/PTC3)
  • TRK translocations (

Follicular thyroid carcinomas

  • RAS (HRAS and NRAS codon61)
  • PAX8/PPAR gamma translocations

Follicular adenomas

  • RAS mutations

Medullary thyroid carcinoma

  • Activating RET mutations
  • Germ line mutations are seen in >95% of familial cases (MEN2 or familial medullary thyroid carcinoma).
64
Q

Thyroid Mutations

A

BRAF

  • PTC

RAS

  • PTC
  • Follicular carcinoma
  • Follicular adenoma

RET

  • PTC
  • Medullary (MEN2 & familial medullary thyroid carcinoma)

TRK translocations

  • PTC

PAX8/PPAR gamma translocations

  • Follicular thyroid carcinomas
65
Q

Mutations in PTC

Most common -> least common?

Pathway?

Associations?

A

Mutations in PTC

Activate the mitogen-activated protein kinase (MAPK) pathway

  • BRAF point mutations
    • 40-50%
    • mainly BRAFV600E
    • a/w classical and tall cell
    • predict more aggressive behavior even in pT1 tumors
    • only in 10% of follicular variant PTC
  • RAS genes
    • 10% to 20%
    • mainly HRAS and NRAS codon 61 mutations
    • mainly in the follicular variant
  • RET/PTC translocations
    • 10% to 20%
    • fusions of RET with 11 different partners
    • mainly RET/PTC1 [fusion partner CCDC6] and RET/PTC3 [fusion partner NCOA4]
    • a/w classical histologic appearance, a younger age at diagnosis, lymph node metastasis, and radiation exposure (RET/PTC2)
  • TRK translocations
    *
66
Q
A

Hashimoto thyroiditis

67
Q

Several studies have demonstrated __ deposition within the context of Hashimoto thyroiditis.

  • Laboratory work-up of patients with Hashimoto thyroiditis may reveal __ antibodies.
  • These autoantibodies likely mediate thyrocyte dysfunction as follows: deposition of__ on the __ of follicular epithelial cells leads to __ and thyrocyte necrosis.
  • Hashimoto thyroiditis is associated with several human leukocyte antigen (HLA) alleles including __.
  • The incidence of Hashimoto thyroiditis is increased among individuals with __.
A

Hashimoto thyroiditis

  • Several studies have demonstrated immune complex deposition within the context of Hashimoto thyroiditis.
  • Laboratory work-up of patients with Hashimoto thyroiditis may reveal antithyroglobulin, antithyroid peroxidase, and antimicrosomal antibodies.
  • These autoantibodies likely mediate thyrocyte dysfunction as follows: deposition of immune complexes (as immune complexes) on the basement membranes of follicular epithelial cells leads to complement activation and thyrocyte necrosis.
  • Hashimoto thyroiditis is associated with several human leukocyte antigen (HLA) alleles including HLA-DR3, HLA-DR4, and HLA-DR5.
  • The incidence of Hashimoto thyroiditis is increased among individuals with Turner syndrome and Down syndrome.
68
Q

5 Salivary gland cribriform lesions?

A

Basal cell adenocarcinoma

  • Basal cell adenocarcinoma (which represents the correct diagnosis in this case, based on the information provided as well as other findings) sometimes shows cribriform architecture.
  • Adenoid cystic carcinoma characteristically shows cribriform architecture. The pseudocysts within cribriform areas of adenoid cystic carcinoma show either mucoid basophilic material (glycosaminoglycans), or hyaline eosinophilic material (reduplicated basal lamina).
  • Low-grade salivary duct carcinoma is alternatively named low-grade cribriform carcinoma.
  • Mammary analogue secretory carcinoma characteristically shows lobular cribriform or microcystic architecture, with mucin in the microcysts/pseudocysts.
  • Benign lesions such as basal cell adenoma and pleomorphic adenoma may also display cribriform patterns.
69
Q

Dx?

Cause?

Result?

HLA?

Causes of primary hyperthyroidism?

Causes of secondary hyperthyroidism?

A
  • Graves disease
  • antithyroid-stimulating hormone receptor (anti-TSHR) antibodies, which cause constitutive activation of follicular epithelial cells
  • overproduction of triiodothyronine (T3) and thyroxine (T4)
  • Histologic features
    • papillary hyperplasia
    • “scalloping” of colloid
    • follicles containing little or no colloid
    • columnar morphologic appearance
  • HLA-B8 has been associated with an increased risk for development of Graves disease
  • HLA-Bw35 has been associated with an increased risk for development of subacute thyroiditis.
  • Causes of primary hyperthyroidism
    • Graves disease, “toxic” goiter, and “toxic” adenoma
  • Causes of secondary hyperthyroidism
    • pituitary adenoma and gestational thyrotoxicosis
70
Q

Dx?

Age?

Gender?

Prognosis?

Staining?

Genetics?

A

Salivary duct carcinoma

  • > 50 yo
  • M > W
  • most aggressive salivary gland malignancies
  • perineural invasion and lymph node involvement occur in the majority
  • occurs de novo and/or within preexisting pleomorphic adenoma (i.e., as a manifestation of carcinoma ex pleomorphic adenoma)
  • positive nuclear immunohistochemical staining for androgen receptor, and positive membranous staining for Her-2/neu
  • 17q21.1 amplification, involving the gene ERBB2, 40% of salivary duct carcinoma
71
Q
A

Follicular neoplasm of thyroid

• The photomicrograph shows a highly cellular specimen containing follicular cells arranged in a microfollicular pattern. This appearance combined with finding scanty or no colloid is suggestive of a follicular neoplasm. Rosette-like microfollicles may not appear as well formed as those in the photomicrograph. Clusters or small, tight aggregates of follicular cells may be seen.

72
Q

Follicular Thyroid Mutations

A

Follicular Thyroid Mutions

RAS mutations

  • up to 50% follicual carcinoma
  • HRAS and NRAS codon61
  • +/- follicular adenomas (precuresor?)

PAX8/PPAR gamma translocations

  • 30-35% follicular carcinoma
73
Q

Medullary Thyroid Carcinoma Mutations

A

Medullary Thyroid Carcinoma Mutations

  • Activating RET mutations
  • Germ line mutations un > 95% of familial cases
    • MEN2
    • familial medullary thyroid carcinoma
74
Q

Thyroid FNA

A

Testing of thyroid fine needle aspirates

  • BRAF V600E mutations, NRAS and HRAS codon 61 mutations, and RET/PTC translocations help manage thyroid nodules
    • BRAF V600E mutation or RET/PTC translocationhas a high PPV for malignancy
      • provided the LOD of the test is not
    • PAX8-PPAR gamma translocation is strongly a/w invasion in a follicular neoplasm
  • In specimens with indeterminate cytology, having 1 mutations is a/w an increased risk of malignancy
    • 88% follicular lesion of uncertain significance
    • 87% follicular neoplasm
    • 95% suspicious for malignancy
  • versus no mutation: 6%, 14%, and 28%
  • the high PPV can allow total thyroidectomy instead of lobectomy in positive cases
81
Q

Most common malignant salivary gland tumor?

A

Mucoepidermoid carcinoma

  • According to series that include both major and minor salivary glands, mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor overall.
  • MEC is by far the most common malignant tumor of the parotid gland.
  • Different series list either MEC or adenoid cystic carcinoma as the most common carcinoma of oral cavity salivary glands.
  • Most series identify adenoid cystic carcinoma as the most common malignancy of the submandibular gland, sublingual gland, lacrimal gland, and salivary glands of the nasal cavity and paranasal sinuses.
  • Primary tumors of tracheal salivary glands are rare. Of these, adenoid cystic carcinoma is the most common.
82
Q
A

THYROID GLAND: Hyalinizing Trabecular Adenoma

  • Paraganglioma-like adenoma of the thyroid (PLAT)
  • Rare, “benign” neoplasm
  • May be mistaken for PTC or MTC
  • Gross: 3-4 mm, yellow-tan, circumscribed
  • Prominent trabeculae in abundant hyaline stroma
  • INCI, nuclear grooves and Psammoma bodies
  • Metachromatic basement membrane-like material between cells *
  • 2-5 micron, yellow, spherical, cytoplasmic bodies with clear halo of retracted cytoplasm and nuclear molding (representing giant lysosomes)
  • Thyroglobulin +
  • ? Variant of PTC due to RET/PTC rearrangements
    • May be related to PTC through common pathway for abnormal production of basement membrane
  • Hyalinizing trabecular carcinoma (vascular/capsular invasion)
83
Q

BRAF MUTATIONS

A

BRAF MUTATIONS

  • PTC
  • Melanoma
  • Cholangiocarcinoma
  • GBM

Activating mutation in exon 15

Valine > glutamate (V600E)

84
Q

THYROID GLAND: PTC, Aggressive Variants

A

THYROID GLAND: PTC, Aggressive Variants

  • Sclerosing: young patients, numerous psammoma bodies, fibrosis, squamous metaplasia
  • Tall cell: older patients, highly papillary, cells twice as tall as they are wide, eosinophilic cytoplasm (mitochondria), BRAF mutation
  • Columnar cell: more aggressive than tall cell variant, elongated stratified nuclei (looks like proliferative endometrium)
  • Hurthle cell PTC: rounded cells
85
Q
A

Tall Cell Variant of PTC

86
Q
A

Columnar Cell Variant of PTC

87
Q

Familial PTC:

A

Familial PTC:

  • associated with familial adenomatous polyposis (+/- Gardner’s syndrome)
  • young females
  • cribriform and squamous metaplastic appearance
88
Q
A

THYROID GLAND: Medullary Carcinoma

Tumor of parafollicular cells

Calcitonin – serum levels

Isolated, inherited familial, autosomal dominant pattern

MEN type II

Medullary Ca. and pheochromocytoma = Sipple syndrome

VHL

NF

89
Q

MEN Type II

A

MEN Type II

  • RET proto-oncogene on chromosome 10q11.2
    • Medullary carcinoma
    • Pheochromocytoma
    • Parathyroid adenomas
    • Pituitary hyperplasia*
  • MEN II b / III
    • mucocutaneous ganglioneuromas and Marfanoid habitus
90
Q
A

THYROID GLAND: Anaplastic/Undifferentiated CA

  • One of the most aggressive human malignancies
  • Survival in months
  • Rare
  • Elderly patients
  • Women
  • Large bulky mass – “bull neck appearance”
  • P53 mutation

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