GENETIC SYNDROMES/ MUTATIONS/ DISEASE ASSOCIATIONS/ ETIOLOGY (RANDOM)

Question 1

inactivating mutation associated with **actinic keratosis **

Answer 1

p53

Inactivating mutations of the tumor-suppressor gene p53 occur as early and common events

Question 2

Most common associated HPV types with Bowenoid papulosis (BP)

Answer 2

HPV 16,18

Question 3

Most common associated HPV types with Epidermodysplasia verruciformis (EV)

Answer 3

HPV 5 & 8

Question 4

Most common associated HPV types with Anal and perianal intraepithelial lesions (AIN, PaIN)

Answer 4

HPV 16

Question 5

Most common associated HPV types with Vulvar intraepithelial lesions (VIN)

Answer 5

HPV 16

Question 6

Most common associated HPV types with Penile intraepithelial lesions (PIN)

Answer 6

HPV 16

Question 7

Most common associated HPV type with Digital/periungual Bowen disease

Answer 7

HPV 16

Question 8

Epidermodysplasia verruciformis (EV) is associated with loss of function mutations of what genes?

Answer 8

Loss-of-function mutations of the genes** EVER1 and EVER2**

Question 9

Anal intraepithelial neoplasia (AIN) is associated with high-grade human papillomavirus (HPV) types, most commonly with what types?

Answer 9

HPV 16, 18, 31, and 33

Question 10

erythroplasia of Queyrat (EQ) is a common type of Penile intraepithelial neoplasia (PIN) is usually associated with what HPV subtypes?

Answer 10

HPV 8 and HPV 16 infection

Question 11

Nevus spilus is associated with what conditions?

Answer 11

Phakomatosis spilorosea - macular variant

Phakomatosis pigmentokeratotica - papular variant

Question 12

These mutations are most prevalent in large- and giant-sized congenital melanocytic nevus

Answer 12

NRAS

Question 13

What mutations are present in most blue nevi?

Answer 13

GNAQ or GNA11

Question 14

Common acquired nevi are clonal neoplasms, the majority of which demonstrate what mutations

Answer 14

activating BRAF mutations

Question 15

Related lesions of blue nevus

Answer 15

nevus of Ota/Ito, Mongolian spot, dermal dendritic hamartoma.

Question 16

Syndromes or diseases associated with blue nevus

Answer 16

Carney complex/LAMB syndrome and phakomatosis pigmentovascularis

Question 17

Spitz nevus often harbor what mutations?

Answer 17

HRAS mutations

Spitz tumors often either harbor HRAS mutations or demonstrate genomic rearrangements involving kinase genes (ALK, ROS1, NTRK1, BRAF, RET, MET).

Question 18

Lentigo simplex may be associated with what disorders?

Answer 18

• LEOPARD (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormalities of genitalia, growth retardation, and sensorineural deafness) syndrome,
• Carney syndrome,
• Peutz-Jeghers syndrome,
• LaugierHunziker syndrome (idiopathic lenticular mucocutaneous pigmentation), and
• centrofacial lentiginosis.

Question 19

Lipomas may be seen as a manifestation of what syndromes?

Answer 19

• Gardner syndrome - Familial adenomatous polyposis, desmofibromatosis, lipomas, osteomas, cysts
• Bannayan (Bannayan-Riley-Ruvalcaba Syndrome) syndrome: Macrocephaly, lipomas, lymphangiomas, hamartomas, intestinal polyposis, lentigines

Question 20

Hamartomas, trichilemmomas, lipomas, oral papillomas, palmoplantar keratoses

Answer 20

Cowden syndrome

Question 21

This gene plays an important role in the pathogenesis of lipoma

Answer 21

HMGA2 gene

Question 22

most common mutation found in LCH

Answer 22

BRAF-V600E mutation