Translocations

Question 1

Adenoid Cystic Carcinoma

Answer 1

t(6;9): MYB-NFIB fusion

Question 2

epithelioid hemangioendothelioma

Answer 2

WWTR1-CAMTA1 gene fusion

Question 3

Odontogenic keratocyst (OKC)

Answer 3

PTCH gene on 9q22.3-q31

Question 4

Biphenotypic sinonasal sarcoma (BPSS)

Answer 4

t(2;4) PAX3-MAML3 fusion

Question 5

Translocation in Mucoepidermoid carcinoma

Answer 5

t(11;19)(q14-21;p12-13) CRTC1(MECT1)-MAML2

Question 6

hyalinizing clear cell carcinoma

Answer 6

EWRS1-ATF1

Question 7

NUT carcinoma

Answer 7

translocation involving a NUTM1 on 15q14

Question 8

Pancreatoblastoma

Answer 8

loss of chromosome 11p; CTNNB1

Question 9

Mutation in pseudoxanthoma elasticum

Answer 9

mutations of ABCC / MRP6 gene at 16p13.1

Question 10

porocarcinoma

Answer 10

NUTM1 gene

Question 11

Most common EGFR mutations in lung cancer

Answer 11

deletions in exon 19 and missense point mutations in exon 21 (Leu858Arg)

Question 12

What is most common targetable driver gene alteration in lung adenocarcinomas?

Answer 12

EGFR mutation

Question 13

Invasion past the elastic layer of the visceral pleura in lung cancer is considered stage what?

Answer 13

stage pT2a

Question 14

Criteria for lung non-adenocarcinoma in situ (AIS)?

Answer 14

small size (<= 30mm) pure lepidic growth with no invasive features (stromal invasion, spread through alveolar space, lymphovascular involvement)

Question 15

most common KRAS mutations in lung adenocarcinoma?

Answer 15

single nucleotide substitutions at codon 12

Question 16

Survival diff between lung adenocarcinoma in situ and minimally invasive adenocarcinoma (MIA)?

Answer 16

No impact (survival identical to that of pure adenocarcinoma in situ)

Question 17

What features distinguish a lung atypical carcinoid from a typical carcinoid

Answer 17

Presence of focal necrosis and/or mitotic count between 2-10 per 2mm2

Question 18

ALK rearrangements are more common in lung adenocarcinomas with what kind of histology?

Answer 18

signet ring histology

Question 19

EGFR mutations in lung cancer are most common in what demographic?

Answer 19

women who are light or never smokers, especially in those of Asian descent

Question 20

Fourth generation HIV testing adds the ability of detecting the presence of

Answer 20

gag p24 antigen

Question 21

How much blood volume should be collected during blood culture (BC) for adequate sensitivity?

Answer 21

20-30 mL from two separate sites

Question 22

Which Mycobacterium tuberculosis complex member is intrinsically resistant to pyrazinamide

Answer 22

Mycobacterium bovis

Question 23

Deletion of the short arm of chromosome 3 is a characteristic finding in which types of RCC

Answer 23

Clear cell RCC

Question 24

What genetic abnormalities are found in papillary RCC

Answer 24

Combinations of trisomy 7 and 17

Question 25

What genetic abnormalities are found in Chromophobe RCC

Answer 25

Combination monosomies (chromosomes 1, 2, 6, 10, 13, 17 and/or 21)

Question 26

Which chromosomal characteristic is the most likely cause of the clinical features of the majority of cases of Prader-Willi syndrome (PWS)

Answer 26

A deletion, specifically of the paternally inherited chromosome 15 at 15q11.

Question 27

Prader-Wili Syndrome is a disorder characterized by

Answer 27

-Hypotonia and feeding difficulties in early infancy
-Excessive eating in childhood, gradual morbid obesity
-Delayed motor milestones and language development
-Cognitive impairment
-Temper tantrums
-Hypogonadism, short stature, strabismus, and scoliosis

Question 28

Angelman syndrome is characterized by the following:

Answer 28

-Severe developmental delay
-Absent or limited speech
-Gait ataxia
-Happy demeanor with frequent inappropriate laughter, smiling, and excitability
-Microcephaly and seizures

Question 29

Which chromosomal characteristic is the most likely cause of the clinical features of the majority of cases of Angelman syndrome

Answer 29

Deletions on the maternally inherited chromosome at 15q11.2 or paternal uniparental disomy of chromosome 15

Question 30

Which mediastinal germ cell tumor affects males and females equally

Answer 30

Teratoma