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SBL Final > Dermatopathology (Part 2 of 4) > Flashcards

Dermatopathology (Part 2 of 4) Flashcards

1
Q

what are some risk factors for melanoma?

A

light complexion, hair, and eyes (Scandinavian descent), history of blistering sunburn, proximity to the equator, indoor occupation with outdoor hobbies, family history of melanoma or dysplastic nevi

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2
Q

where is a common site for melanoma- especially for males?

A

upper back

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3
Q

where is a common site for melanoma-especially for females?

A

legs

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4
Q

where are common sites for malignant melanoma in blacks and asians?

A

soles, mucous membranes, palms, and nail beds

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5
Q

What are the ABCDEs of melanoma?

A

A: asymmetry B: irregular Borders; C: variegated Color; D: increasing Diameter; E: Evolution/ change over time

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6
Q

besides the ABCDEs of melanoma, what is another clinical feature of melanoma?

A

any pigmented lesion with a diameter greater than 6mm, any change, itching, or pain

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7
Q

what is the driver mutation in melanoma that disrupts the cell cycle control genes?

A

CDKN2A

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8
Q

what does CDKN2A encode?

A

3 tumor suppressor genes: p15, p16, and ARF

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9
Q

which driver mutation in melanoma is responsible for activating the pro-growth signaling pathways?

A

RAS and P13K/AKT; and BRAF

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10
Q

which driver mutation in melanoma is responsible for activating telomerase?

A

TERT

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11
Q

what is the most commonly mutated gene in melanoma?

A

TERT

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12
Q

what do the cells’ nuclei look like in melanoma?

A

the nucleus has margination of the chromatin- it tends to go towards the edges of the nucleus- tends to have this bright red nucleolus in the center- these are classic cells that we see with melanoma

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13
Q

what does radial growth mean?

A

horizontal spread of melanoma within the epidermis and superficial dermis; tumor cells seem to lack the capacity to metastasize

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14
Q

what is lentigo maligna?

A

usually an indolent lesion on the face of older men- may remain in the radial growth phase for several decades

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15
Q

what is superficial spreading?

A

the most common type of melanoma; usually involves sun-exposed skin

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16
Q

what is acral/mucosal lentiginous melanoma?

A

melanoma that is unrelated to sun exposure

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17
Q

what are three different types of radial growth of melanoma?

A

lentigo maligna, superficial spreading, and acral/mucosal lentiginous

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18
Q

what is the most common type of melanoma?

A

superficial spreading

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19
Q

what is the vertical growth phase of melanoma?

A

when tumor cells invade downward into the deeper dermal layers as an expansile mass, after a variable (and unpredictable) period of time following radial phase

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20
Q

what is the vertical growth phase heralded by?

A

by the appearance of a nodule and correlates with the emergence of a tumor subclone with metastatic potential

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21
Q

what is present in melanocytic nevi but absent in melanoma?

A

neurotization

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22
Q

the probability of metastasis in vertical growth melanoma lesions correlates with what?

A

the depth of the invasion

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23
Q

how is the depth of invasion in the vertical growth phase measured? what is this measurement known as?

A

it is the distance from the superficial epidermal granular cell layer to the deepest intradermal tumor cells; the BRESLOW THICKNESS

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24
Q

what are 5 criteria for a favorable prognosis of melanoma?

A

thinner tumor depth; no mitosis (no mitotic figures); brisk tumor infiltrating lymphocyte response; no regression; and lack of ulceration

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25
Q

what are 2 criteria for a poor prognosis of melanoma?

A

metastases (even micrometastases), and # and degree of LN involvement

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26
Q

what are 4 examples of benign epithelial tumors?

A

seborrheic keratoses, acanthosis nigricans, fibroepithelial polyp, and epithelial or follicular inclusion cyst (wen)

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27
Q

who is most likely to get seborrheic keratoses (Seb K)?

A

middle age or older individuals

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28
Q

how and where do seborrheic keratoses arise?

A

arise spontaneously and primarily on the trunk but can also be on the extremities, head, and neck

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29
Q

what is dermatosis papulosa nigra?

A

a subtype of seborrheic keratoses that affects people of color (multiple small lesions on the face- think morgan freeman)

30
Q

what are the morphological features of Seb K? and what is the buzz-word for Seb K?

A

round, flat, coin-like, waxy papules; tan-dark brown; velvety or granular surface buzzword: WAXY

31
Q

how can you differentiate between melanoma/dysplastic nevi and Seb K lesions?

A

Seb K lesions have a pore-like ostia impacted with keratin

32
Q

what causes Seb K?

A

activating mutations in fibroblast growth factor receptor-3 (FGFR-3)- thought to drive the growth of the tumor

33
Q

what is Leser-Trelat sign?

A

it is a paraneoplastic syndrome; a sudden appearance of large numbers of Seb K’s; associated with carcinomas of the GI tract

34
Q

what are 3 characteristic features of Seb Ks?

A

exuberant keratin production (hyperkeratosis) and small keratin-filled cysts (horn cysts) and invaginations of keratin into the main mass (invagination cysts)

35
Q

what is acanthosis nigricans? and what are the morphological features?

A

cutaneous sign of several underlying benign and malignant conditions; thickened hyperpigmented skin with velvet-like texture in flexural areas; intertriginous areas (two skin surfaces that rub together)

36
Q

what is acanthosis nigricans associated with?

A

obesity and diabetes

37
Q

besides being asosciated with obesity and diabetes, what else could acanthosis nigricans be associated with?

A

cancers, especially GI adenocarcinomas in middle age or older individuals (it is a paraneoplastic process–> growth factors released from tumors)

38
Q

what is the pathogenesis of acanthosis nigricans?

A

increased growth factor receptor signaling in the skin: familial: FGFR-3
DM2: hyperinsulinemia believed to increase stimulation of insulin-like growth factor receptor-1

39
Q

what is the histology like of acanthosis nigricans?

A

the epidermis and underlying enlarged dermal papillae undulate sharply–> numerous repeating peaks and valleys; NO MELANOCYTIC HYPERPLASIA

40
Q

what is the medical term for skin tag?

A

fibroepithelial polyp or acrochordon

41
Q

what age is more like to develop a fibroepithelial polyp?

A

middle age- elderly

42
Q

what are fibroepithelial polyps associated with?

A

diabetes, obesity, and intestinal polyposis

43
Q

what is a rare syndrome of polyps and perifollicular mesenchymal tumors (fibroblasts associated with hair bulb)?

A

Birt-Hogg-Dube syndrome

44
Q

what is Birt-Hogg-Dube syndrome?

A

rare, polyps and perifollicular mesenchymal tumors

45
Q

how do fibroepithelial polyps look morphologically?

A

soft, flesh-colored, bag-like tumors; often attached by slender stalk

46
Q

what do fibroepithelial polyps look like histologically?

A

fibrovascular cores covered by benign squamous epithelium

47
Q

how can you remove fibroepithelial polyps?

A

torsion- which leads to ischemic necrosis, which ultimately leads to their removal

48
Q

what are epithelial or follicular inclusion cysts (Wen)?

A

invagination and cystic expansion of the epidermis or hair follicle (common in the scalp region)

49
Q

what could happen to epithelial or follicular inclusion cysts (Wen)?

A

they are subject to traumatic rupture, which would cause a spill of keratin into the dermis leading to a painful granulomatous inflammatory response

50
Q

what are adnexal (appendage) tumors?

A

hundreds of neoplasms arising from or showing differentiation toward cutaneous appendages; benign tumors that may be confused with basal cell carcinoma (BCC)

51
Q

what is Cowden syndrome? and what is it caused by?

A

multiple trichilemmomas; a disorder caused by germline mutations in the tumor suppressor gene PTEN

52
Q

what are people with Cowden syndrome at risk for?

A

endometrial cancer and breast cancer

53
Q

what is a cylindroma?

A

ductal differentiation “jigsaw puzzle”; turban tumor: coalesce, hat-like growth

54
Q

what gene is mutated in a cylindroma: turban tumor?

A

CYLD

55
Q

what is the CYLD normal function?

A

it is a tumor suppressor gene

56
Q

what are two CYLD associated genetic syndromes?

A

Familial Trichoepithelioma and Brooke-Spiegler

57
Q

what is an eccrine poroma?

A

an adnexal (appendage) tumor of the palms and soles and anywhere where there are lots of sweat glands

58
Q

what is a Syringoma?

A

eccrine differentiation, small tan papules, usually affects the lower eyelids

59
Q

What can sebaceous adenomas be associated with?

A

internal malignancy in Muir-Torre syndrome and also a subset of cases with hereditary nonpolyposis colorectal carcinoma syndrome (aka Lynch Syndrome)

60
Q

what is lynch syndrome caused by?

A

germline defects in DNA mismatch repair genes

61
Q

What is a pilomatricoma and what is it associated with?

A

an adnexal (appendage) tumor showing hair follicle differentiation, associated with activating mutations in CTNNB1 (the gene encoding Beta-catenin)

62
Q

What is beta-catenin important for?

A

early hair development and it regulates hair growth and maintenance

63
Q

what is the buzzword for cylindromas?

A

jigsaw puzzle

64
Q

what is a trichoepithelioma?

A

proliferation of basaloid cells that forms primitive structures resembling hair follicles

65
Q

what is a cylindroma composed of?

A

islands of cells resembling the normal epidermal or adnexal basal cell layer (basaloid cells)

66
Q

what does a sebaceous adenoma look like histologically?

A

bubbly due to the lipid

67
Q

what are pilomatrixomas composed of?

A

basaloid cells that show trichilemmal or hair-like differentiation; ghost cells: no nucleus

68
Q

what is the mutated gene in nevoid basal cell carcinoma syndrome?

A

PTCH

69
Q

what is the mutated gene in cowden syndrome?

A

PTEN

70
Q

what is the mutated gene associated with familial melanoma syndrome?

A

CDKN2

71
Q

What is the manifestation of muir-torre syndrome?

A

internal malignancy (colon and others)

72
Q

what is the mutated gene associated with Xeroderma pigmentosum?

A

XPA

SBL Final (21 decks)

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