Neoplasms Flashcards
Seborrheic Keratosis- Mutation
FGFR3, PIK3CA
Parakeratosis Ptychotropica
Epidermal Nevi- Mutation
Bilateral-Name
Syndrome
Other Syndromes with Epidermal Nevi
FGFR, PIK3CA, HRAS>NRAS>KRAS
Ichythosis Hysterix
Epidermal Nevus Syndrome (Neuro and MSK abnormal)
CLOVES, Proteus, PTEN hamartoma syndrome
Name that Path Finding? Syndrome? Mutation?
Path Finding: epidermal hyperplasia with prominent compact hyperkeratosis associated with granular and vacuolar degeneration of keratinocytes in the spinous and granular layers (epidermolytic hyperkeratosis).
Diagnosis: Epidermolytic Hyperkeratosis within Epidermal Nevi
Mutation Keratin 1 and 10 (mosaic)
When germline mutation: epidermolytic ichtyosis
Diagnosis?
Flegel disease (hyperkeratosis lenticularis perstans)
AD
Characteristic absent lamellar granules
Has been associated with endocrine disorders
Warty Dyskeratoma
M>F
Usually on the head and neck!!
AK pathogenesis
UVB
thymidine dimers (C-> T, CC-> TT)
p53 mutations
Erythroplasia of Querat
SCCis
High Risk HPV associated
SCC Met Risk Factors
> 2 cm
Breslow > 2mm
Poorly differentiated
Lip, Ear
Immunosuppresion (CLL), Marjolins
Medications associated with SCC
vemuRAFenib (BRAF)
voriconazole
MTX, etanercept
KA syndromes?
Ferguson–Smith syndrome is an autosomal dominant condition (25-30 yo at onset) due to mutations in TGFBR1 which encodes TGF-β receptor type 1.
Recurrent crops with spontaneous resolution
Grzybowski type (older 40-60) present as thousands of papules resembling milia or early eruptive xanthomas.
develop rapidly and may slowly resolve
ectropion, prominent oral involvement, mask-like facies.
Syndromes with BCCs
Gorlin
Bezex-Dupre-Christol
Rombo
Brooke-Spiegler
XP
Schoph-Schultz-Passarge
Multiple Epidermoid Cyst association
Gardner Syndrome (Familial Adenomatous Polyposis)- can have pilomatrical differentiation
Dermoid Cyst
Also has shark tooth lining (, but +granular layer)
Normal Adnexal Structures in cyst lining
Infants; Lateral Eyebrow
Blue Nevus Mutations
GNAQ, GNA11
Epithelioid Blue Nevus
Carney Complex
Baloon Nevus
Hint: Look for the conventional nevus cells within the lesion
Caused by melanosome degeneration
Spitz Mutation
Stains
HRAS
S100A6, S100, Melan-A, p16+ (vs atypical spitz where lost)
FISH with loss of 9p21 (loci for p16, CDKN2a)
Atypical Spitzoid Nevus Mutation
BAP-1 (BAPoma)
Also have BRAF mutations (in contrast to spitz nevi)
Deep Penetrating Nevus vs Cellular Blue
DPN
More likely to have junctional component
superficial ordinary nevus nests
pigmented within the melanocytes
nuclei: small smudged hyperchromatic, no nucleoli
(No GNAQ/GNA11 mutation)
Cellular Blue Nevus
epithelioid
pigment prominent in melanophages
vesicular nucleoli with prominent nucleolis
Congential Nevus
Mutation
Size Cut Offs
Risk of MM with Large
NRAS
< 1.5 cm, 1.5-19.9, >20
2-3%
Common Nevus: Mutation
BRAF
Desmoplastic melanoma stains
Negative Melan-A, HMB-45
Positive S-100, SOX-10
Diagnosis?
Stains?
Poroma
CEA, EMA, and PAS
Diagnosis?
Charateristic Features
Nodular Hidradenoma
Cell Types: Poroid Cells, Squamoid Cells, Clear Cells
Large Areas of Cystic Degeneration
Dermal Sclerosis and Keloidal Collagen
Eruptive Syringomas
Down Syndrome
Clear Cell Syringoma
DM
Pleomorphic Adenoma
Oral variant of mixed tumor
chondroid syringoma
mixed tumor
Spiradenoma Syndromes
Brooke-Spiegler (CYLD)
Spiradenocarcinoma more common (arising withing spiradenoma)
Diagnosis?
Common Location?
Adenoid Cystic Carcinoma
Primary Cutaneous ACC: Scalp
Or Met OR primar salivary gland ACC (bad!)
Calcifying Epithelioma of Malherbe
Pilomatricoma
Pilomatricoma, Mutation
CTNNB1 (encodes B-catenin)
Conditions with Multiple Pilomatricomas
Myotonic Dystrophy
Turner Syndrome
Garder Syndrome (Familial Adenomatous Polyposis)
Rubinstein-Taybi
Stains for Trichilemmoma
CD34 (Outer Root Sheath Differentiation)
Pan-keratin
Trichilemmal Cyst
Pilar Cyst
Outer Root Sheath Differentiation
Isthmic Differentiation
No granular layer
Schwannoma Stains
S-100, EMA+
Negative for Neurofilaments
Neurofibroma Stains
S-100+
Neurofilaments+
Bilateral Acoustic Neuromas
NF-2
Neurothekeoma (cellular)
S100-
S-100A6+, NKI/C3+, PGP9.5+