Translocations Flashcards
Adenoid Cystic Carcinoma
t(6;9): MYB-NFIB fusion
epithelioid hemangioendothelioma
WWTR1-CAMTA1 gene fusion
Odontogenic keratocyst (OKC)
PTCH gene on 9q22.3-q31
Biphenotypic sinonasal sarcoma (BPSS)
t(2;4) PAX3-MAML3 fusion
Translocation in Mucoepidermoid carcinoma
t(11;19)(q14-21;p12-13) CRTC1(MECT1)-MAML2
hyalinizing clear cell carcinoma
EWRS1-ATF1
NUT carcinoma
translocation involving a NUTM1 on 15q14
Pancreatoblastoma
loss of chromosome 11p; CTNNB1
Mutation in pseudoxanthoma elasticum
mutations of ABCC / MRP6 gene at 16p13.1
porocarcinoma
NUTM1 gene
Most common EGFR mutations in lung cancer
deletions in exon 19 and missense point mutations in exon 21 (Leu858Arg)
What is most common targetable driver gene alteration in lung adenocarcinomas?
EGFR mutation
Invasion past the elastic layer of the visceral pleura in lung cancer is considered stage what?
stage pT2a
Criteria for lung non-adenocarcinoma in situ (AIS)?
small size (<= 30mm) pure lepidic growth with no invasive features (stromal invasion, spread through alveolar space, lymphovascular involvement)
most common KRAS mutations in lung adenocarcinoma?
single nucleotide substitutions at codon 12
Survival diff between lung adenocarcinoma in situ and minimally invasive adenocarcinoma (MIA)?
No impact (survival identical to that of pure adenocarcinoma in situ)
What features distinguish a lung atypical carcinoid from a typical carcinoid
Presence of focal necrosis and/or mitotic count between 2-10 per 2mm2
ALK rearrangements are more common in lung adenocarcinomas with what kind of histology?
signet ring histology
EGFR mutations in lung cancer are most common in what demographic?
women who are light or never smokers, especially in those of Asian descent
Fourth generation HIV testing adds the ability of detecting the presence of
gag p24 antigen
How much blood volume should be collected during blood culture (BC) for adequate sensitivity?
20-30 mL from two separate sites
Which Mycobacterium tuberculosis complex member is intrinsically resistant to pyrazinamide
Mycobacterium bovis
Deletion of the short arm of chromosome 3 is a characteristic finding in which types of RCC
Clear cell RCC
What genetic abnormalities are found in papillary RCC
Combinations of trisomy 7 and 17
What genetic abnormalities are found in Chromophobe RCC
Combination monosomies (chromosomes 1, 2, 6, 10, 13, 17 and/or 21)
Which chromosomal characteristic is the most likely cause of the clinical features of the majority of cases of Prader-Willi syndrome (PWS)
A deletion, specifically of the paternally inherited chromosome 15 at 15q11.
Prader-Wili Syndrome is a disorder characterized by
-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
Angelman syndrome is characterized by the following:
-Severe developmental delay
-Absent or limited speech
-Gait ataxia
-Happy demeanor with frequent inappropriate laughter, smiling, and excitability
-Microcephaly and seizures
Which chromosomal characteristic is the most likely cause of the clinical features of the majority of cases of Angelman syndrome
Deletions on the maternally inherited chromosome at 15q11.2 or paternal uniparental disomy of chromosome 15
Which mediastinal germ cell tumor affects males and females equally
Teratoma
