MOD 2 more lectures (dermatopathology and cancer genetics) Flashcards

1
Q

Risk factors for skin cancer

A

solar dmg (melanoma, basal, squam, and merkel cell carcinoma, angiosarcoma)
viral infection (squam cell)
chemical (squam cell)
genetic (melanoma, basal cell nevus)

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2
Q

Melanocytic nevi and types

morphology?

A

(mole)
junctional: dermo-epidermal junction
compound nevus: dermo-epiderm jxn and dermis
intradermal: melanocyte aggregates in dermis
-morph: spitz (spindle/epith melanocytes), and halo nevi (w chronic inflam)
-blue nevi: dnedritic melanocytic nevi assoc with pigmentation and dermal fibrosis

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3
Q

Lentigo maligna?

Invasive melanoma?

A

Lentigo: melanoma in situ on sun dmgd skin
Invasive: breslows thickness , clarks level, ulceration and invasion in dermis or beyond

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4
Q
  • seborrheic keratosis
  • actinic keratosis
  • basal cell carcinoma
  • squmaous cell carcinoma
  • keratoacanthoma
  • merkel cell carcinoma
A

SK: benign, looks like moles. epid
AK: dysplasia of lower epid above solar, forearms/scalp, precancerous, plaques (UV causes basal layer to disorg), can excise it easily
MALIG:
BCC: malig immature basal cell keratinocytic neoplasm (most common human cancer), flesh or red papules, bluish cells on biopsy bc large nucl, can lose eyes/nose but wont metas, basal cell prolif caused by UV (low grade cancer that rarely metast)
SCC: malig mature keratinocytic neoplasm (scaly ulcerated plaque on head/neck/genitals, irreg dermis nodules (pink keratin pearls), UV light or HPV (genitals)
KA: well diff SCC with crater formation
MCC: primary cutaneous neuroendocrine carcinoma (older person, head and neck, sun dmg)

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5
Q

Fibriohistiocytic neoplasia

A

benign factor XIIIa expressing dermal dendrocytic neoplasm

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6
Q

Mycosis fungoides

A

chronic cutaneous CD4 T-cell lymphoma

  • patch, laque, lympo infiltrate of epid and dermis
  • pautrier mciroabcess, abnormal CD markers, clonal prolif
  • Sezarys syndrome: cut T-cell lymphoma with tumor cell sin blod with erythema and other sys issues
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7
Q

Adnexal neoplasia

A

ben/mal

pilomatricoma: diff of hair follics, sebaceous hyperplasia and tumors etc
- eccrine (hidrademona aka sweat gland tumor) etc

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8
Q

Vascular neoplasia

  • hemangioma
  • angiosarcoma
  • kaposi’s sarcoma
A
  • hemang: benign
  • angiosarc: malig, high grade neoplasms with diff in sun dmg skin, head and neck, older ppl
  • kaposi: low grade malig vasc spindle cell neoplasm (herpes virus 8 transformation aka HHV8)
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9
Q

Skin layers

A

Epidermis (5 layers CLGSB)
Dermis
Subcutaneous tissue (mostly fat)

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10
Q

4 main keratinocytic neoplasms?

A

SK
AK
BCC
SCC

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11
Q

congenital vs acquired nevus

A

congenital usu benign

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12
Q

How to estimate melanoma vol? rank

A

Breslows thickness for vol

Clarks levels

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13
Q

What does merkel cell carcinoma look like on slides and what is it assoc with

A

dense core neuroendocrine granules on EM

assoc with sun dmged skin and polyomavirus

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14
Q

Adenxal neoplasms (3)

A

tumors of skin appendages
Cylindroma
Pilomatricoma
Sebaceous adenoma

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15
Q

Hematopoeitic neoplasms (2)

A
  • Mycosis fungoides: hemo neoplasm, older patients, clocnal prolif, of lymphocytes in upper epidermis, forms patch then plaque then tumor
  • Sezary’s syndrome: cut t cell lympoma, erythrema can evolve into leukemia
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16
Q

Dermatofibroma

A

A type of stromal neoplasm, fibrous histiocytoma–benign dermal dnedrocyte neoplasm (firm solitary nodules, squeezing forms dimple, firbroblast prolif, common in legs of females eg induced by razor)

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17
Q

3 vascular neoplasms

A

Hemangioma (benign, bv’s dilate)
Angiosarcoma (UV dmg, blood vessel prolif in head and neck of elderly)
Kaposi sarcoma (vasc spindle neoplasm from HHSV-8) dont know if ben/mal (common if low CD4 count), small red purple lesions

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18
Q

TABLE:

Actinic keratosis

A
  • from UV, epidermis basal layer, keratinocytes partially transformed
  • scaly lesion, may be red, common on forearms and scalp
  • histo: dysplasia of lower epidermis
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19
Q

Basal cell carcinoma

A
  • mal immature basla keratin neoplasm, most common, cuased by UV
  • red papule, pearl like, may be pigmented, assoc with upper lip, stem cell like prolif nests
  • rarely metast, destruction to surr tissue
  • slides: blueish, bc high nucl:cyto ratio
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20
Q

Squamous cell carcinoma

A

malig mature keratin neo, tumor modules in derms, lower lip, invasive, irreg cells, prom nuclei, irreg mitosis

  • aggro, lethal, not just in skin
  • slides: cells look like upper layers of epidermis
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21
Q

Keratoacanthoma

A
  • skin tumor, unlikely to metas, caused by uv
  • dome shaped symm, surr by inflamed skin, keratin scales
  • fast growing, necrosis and healing w scarring
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22
Q

Seborrheic keratosis

A
  • benign epid neoplasm >30, may be pigmented, inflam, thickening of epid, senile warts
  • slides: porlif of keratinocytes with cystic formation
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23
Q
Melanoma types (3)
And clinical course/px?
A

melanoma in situ
invasive
nodular
-biopsy the lesion, use melan-a stain to det if cause of lesion is melanoma, deeper ulcer means worse px, measure depth from gran layer ot base ot det invasion and px

24
Q

melanoma in situ

A

confined to epid, no metas, no lymph

25
Q

invasive melanoma appearance

A

dermis or beyond, melanocytes with prom mitoses, necrosis, shotgun pattern, cells have diff shapes

26
Q

nodular melanoma appearance

A

cells create nodule in dermis, usus invasive, rec when it becomes a bump, varies in color

27
Q

Merkel cell carcinoma

A
  • cut neuroendo carcionma, dnese granules, older ppl head and neck, sun dmg, blue cell tumor, hard to treat
  • slides: stem cell prolif, primitive blue cells with high N;C ratio
28
Q

Acanthosis nigricans

A
  • velvety hyperppigmentation in skin in body folds, ben or mal, assoc with obesity or endocrine issues
  • slides: hyperkeratosis church spire appearance
29
Q

Fibrous histiocytoma

A

dermatofibroma, benign factor XIIIa expressing dermal dendrocytic neoplasm, legs of females due to razor, dense fibrous tissues

30
Q

epidermal cysts

A

benign cyst on skin, result of implantation of epid into dermis
-slides: thin layer of squamous epith

31
Q

Junctional nevus
Compound nevus
Intradermal nevus

A
  • jxnl: melanocyte agg at dermo-epid jxn, flat w smooth border, nest, no mitoses/necroses
  • cpd: melan agg mix of jxnl and intraderm porlif, raised, brown/black beauty mark
  • intraderm: mel agg in dermis, raised, flesh colored
32
Q

Pilomatricoma (follicular)
Sebaceous adenoma
Cylindroma (eccrine)

A

Pilo: benign neo with pilomatrix diff in hair follic, firm irreg nodules, scalp or anywhere

  • seb ad: benign with seb diff, large nodules in dermis, smooth borders, non aggro, monotonous cells, not many mitoses, yellow-orange, slides have vacuoles with sebum
  • cyclindroma: benign wtih islands of cuboidal cells with thick BM material, histo: nest like cylinders with thick fibrous band around nodules
33
Q

Cancer genetics

A

ALL are genetic, but only small portion are inherited

34
Q

Characteristics of hereditary cancer

A

early onset, relatives with the same cancer, bilateral tumors, multiple primary tumors of same cancer type, AD inheritance

35
Q

Retinoblastoma (Rb)

A

most common eye tumor in children
herit and non herit
Rb is a TSG, RB1 gene on chrom 13

36
Q

Knudson’s two hit model, and tumor’s involved

A

can have predisposition, but need second mutation to develop cancer (dominant inheritance, but need recessive gentoype)
Rb, wilm’s, p53, APC

37
Q

Why cant you give ionized radiation therapy to patient with de novo heritable form of Rb?

A

bc mutation is de novo so patient may be prone to other types of cancers and radiation could cause their onset (eg sarcomas)

38
Q

genes involved in BC/ovarian cancer

A

usu sporadic, but can inv BRCA1 mostly (also BRCA2, and a lil bit p53/ PTEN)

39
Q

BRCA1 assoc cancers

A

BC, some ovarian, a lil bit of others (pancreatic, prostate)

40
Q

BRCA2 assoc cancers

A

BC, OC, others (prev, and melanoma, laryng), and male breast cancer

41
Q

Sx that may indicate BRCA mutation

A

multiple early onset cases, ovarian cancer with fam history of either, BC and OC in same person, bilateral, ashkenazi jew, male BC

42
Q

TABLE:
Cancer, inheritance, clinical findings, genes, tx

BC

A
BCRA 1 (and 2??)
tx: mamo, mastectomy, prostate screening in men with mutation
43
Q

Wilm’s tumor

A

WAGR, 11p13 deletion

tx: serum tumor marker for AFP and ultrasounds of abd as kid

44
Q

Hereditary melanoma

A

relatives affected, seen w pancreatic cancer, CDKN2A, CDK4, screen by age 10

45
Q

Ataxia Telengiectasia

A

AR, clumsy gait, weird eye vessels, genes ATM 7:24 transloc, screen both carrier women and partners, preven BC/pancr cancer

46
Q

Li Fraumeni syndrome

A

Diff cancers, TP53, same prevention methods as prevs

47
Q

Cowden syndrome

A

Thyroid tumors, mucocutaneous stimata, cobblestone appearance around lips and nose, PTEN, same methods (with endometr biopsies)

48
Q

Multiple endocrine neoplasia type 2

A

Tall, medullary thyroid carcinoma, neuromas of tongue and eyelids, RET, tx by removing thyroid gland

49
Q

Von Hippel-Lindau syndrome

A

AD, hemangioblastomas, pancreatic cysts, neuroendocirne tumors, renal carcinoma, bilateral
VHL gene

50
Q

Peutz-Jeghers

A

AD, intestinal polyps and hyperpigmented macules, STK11 mutation

51
Q

Basal cell nevus syndrome

A

AD, jaw cysts, basal cell carcinomas thru skin, kids, calcification of falx cerebri (PTCH, SUFU)

52
Q

Which involves thryoid tumors?

A

cowden syndrome

53
Q

Which involves intestinal polyps and hyperpig macules

A

Peutz-jeghers sydnrome

54
Q

Which involves calicfication of falx cerebri?

A

Basal cell nevus syndrome

55
Q

Tx or preventative methods for ovarian cancer

A

salpingo-oophorectomy to elim (can still cause peritoneal)
PARP (poly ALD ribose polymerase) last resort if chemo isnt working
lifestyle
prophylatic surgery (remove all breast tissue eg mastectomy), mammo/MRI

56
Q

FAP
what cancer risk
genes
tx

A

Familial Adenomatous Polyposis
risk for colorectal cancers, colonic polyps in teens (min 100), prophylatic colectomy (found on APC gene chrom 5, de novo, AD)

57
Q

Lynch syndrome or HNPCC

A

hereditary non-polyposis colorectal cancer
AD
-microsatellite instability: HNPCC related genes are in DNA mismatch repair, instability,
-IHC: look for MMR genes to see which gene is mtuated
(use tests together)
-colorectal cancer (do colonoscopy), endometrial cancer (do transvag ultrasound)