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Molecular > IPr > Flashcards

IPr Flashcards

1
Q

Lung

A

meningothelial-like nodule (MLN)

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2
Q

Lung

A

Alveolar adenoma

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3
Q

Blood Agar

A

Metallic sheen; Pseudomonas aeruginosa

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4
Q

GMS Stain Lung

A

blastomycosis

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5
Q

“Spherical yeasts measuring approximately 12 µm with double contour walls and broad based budding”

A

blastomycosis

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6
Q

Rat-bite fever is primarily caused by

A

Streptobacillus moniliformis

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7
Q

Which genes confers resistance to colistin?

A

mcr-1 gene

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8
Q

blaKPC gene confers resistance to

A

beta-lactam antibiotics

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9
Q

mecA gene confers resistance to

A

beta-lactam antibiotics via production of the low-affinity penicillin binding protein (PBP2a)

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10
Q

erm gene confers resistance to

A

erythromycin and clindamycin (detected by erythromycin mediated induction) via ribosome methylation

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11
Q

Which species of plasmodium are capable of creating dormant hypnozoites in the host liver?

A

Plasmodium ovale and Plasmodium vivax

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12
Q

Peripheral Blood Smear

A

coarse basophilic stippling and an infected red blood cell with a fimbriated membrane; Plasmodium ovale

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13
Q

Which species of plasmodium causes “Blackwater Fever” and severe neurologic disease?

A

Plasmodium falciparum

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14
Q

Which Enterococcus species are considered intrinsically resistant to vancomycin?

A

Enterococcus gallinarum and Enterococcus casseliflavus

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15
Q

What mutation in Gastric MALT lymphoma associated with chronic gastritis secondary to Helicobacter pylori infection makes it refractory to antibiotic treatment?

A

t(11;18)(q21;q21) (API2-MALT1)

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16
Q

Clear cell sarcoma Translocation

A

(12;22)(q13;q12) EWSR1-ATF1

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17
Q

Lynch Syndrome is most often caused by mutations in

A

MSH6 or MLH1

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18
Q

Lynch Syndrome associated with which cancers

A

Colorectal, endometrial, ovarian

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19
Q

Translocation in myxoid and round cell liposarcoma

A

t(12;16)(q13;p11) DDIT3-FUS

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20
Q

Most cases of acute myeloid leukemia (AML) in Down Syndrome are what subtype

A

acute megakaryoblastic leukemia

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21
Q

Guidelines for the detection of malignancy of bladder cancer with FISH?

A

If ≥4 cells show gains for two or more chromosomes, or if ≥12 cells have zero 9p21 signals within the first 25 cells analyzed; analysis should continue until either the criteria for malignancy are met or until the entire specimen has been analyzed

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22
Q

ALK+ anaplastic large cell lymphoma translocation

A

t(1;2) (TPM3-ALK)

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23
Q

Translocation in Extraskeletal myxoid chondrosarcoma (EMC)

A

t(9;22) (EWS-CHN)

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24
Q

chronic myeloid leukemia

A

t(9;22) (BCR-ABL)

25
Q

Alveolar Rhabdomyosarcoma translocation

A

t(2;13) (PAX3-FOXO1)

26
Q

Peripheral Blood Smear

A

numerous blasts with “cleaved” and “butterfly” nuclei; acute promyelocytic leukemia (APL)

27
Q

standard-risk Plasma cell myeloma genetic profile

A

Hyperdiploidy, t(11;14), and t(6;14)

28
Q

Intermediate-risk PCM genetic profile

A

Hypodiploidy, deletion 13q, and t(4;14)

29
Q

High-risk Plasma cell myeloma genetic profile

A

Deletion 17p (TP53), t(14;16), and t(14;20)

30
Q

Hairy cell leukemia Driver mutation

A

BRAF V600E mutation

31
Q

factors appear to adversely affect prognosis in AML with t(8;21)(q22;q22.1)

A

presence of KIT mutations in adults and CD56 expression

32
Q

What does EBER in situ hybridization (ISH) identify?

A

small nuclear viral RNAs present in tumor cell nuclei

33
Q

most common mutation reported in therapy related myeloid neoplasms

A

TP53

34
Q

Which rearrangement is most prevalent in Burkitt lymphoma

A

t(8;14)(q24;q32) Myc-IGH

35
Q

Most common alteration in B-lymphoblastic leukemia/lymphoma, BCR-ABL1-Like (Ph-Like ALL)

A

CRLF2 translocation

36
Q

What is the correct order of the steps required to analyze the NGS data and generate a report

A

Sequence alignment, variant calling, variant annotation, variant prioritization, and reporting

37
Q

Chronic neutrophilic leukemia is characterized by mutations in which gene

A

CSF3R

38
Q

Mutated gene in hereditary diffuse gastric cancer (HDGC)

A

CDH1 (E. cadherin)

39
Q

Most commonly rearranged gene in Microphthalmia-associated transcription factor (MiT)-family translocation renal cell carcinoma (RCC)

A

TFE3

40
Q

SF3B1 mutations in myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) often found in conjunction with mutations in

A

JAK2 V617F mutation

41
Q

What can be used for maintenance therapy in patients with BRCA1/2 mutations after relapse to platinum-based chemotherapy

A

PARP inhibitors

42
Q

Translocation in mantle cell lymphoma

A

t(11;14)(q13;q32) bcl1-IGH

43
Q

Most common translocation in CyclinD1-negative mantle cell lymphoma

A

CCND2 translocations, usually with an IG partner (often either IGK or IGL)

44
Q

3 promoter sites recognized by RNA polymerase II

A

-The TATA box, usually in the -25 position (bases upstream of the transcription start site), usually a TATAAA or similar sequence, in genes with restricted expression (either temporal restriction or restriction to a specific cell type).
-The GC box, usually for housekeeping genes
-The CAAT box, usually in the -80 position

45
Q

IDH1 and IDH2 mutations are present in what histologic subtype of mesenchymal neoplasm

A

cartilaginous neoplasms

46
Q

What is a supernumerary marker chromosome (SMC)

A

an additional chromosomal fragment that lacks sufficient banding information to allow for identification of its origins by classic cytogenetic methods

47
Q

Gorlin Syndrome abnormalities

A

basal cell carcinomas of the skin, medulloblastomas, ovarian fibromas, and OKC, often multiple

48
Q

Dorsal tongue nodule

A

Mucosal neuroma

49
Q

In what location within the larynx is a worse prognosis associated with squamous cell carcinomas?

A

Subglottis/trachea

50
Q

DIF findings in Oral mucous membrane pemphigoid (OMMP)

A

linear deposition of immunoglobulin and/or complement along the epithelial basement membrane zone (BMZ)

51
Q

autoantibodies In Pemphigus vulgaris

A

desmoglein1 and 3

52
Q

DIF findings in Erythema multiforme

A

deposition of IgM and C3 along BMZ and blood vessel walls

53
Q

DIF findings in Lichen planus (LP)

A

occasionally show granular deposits of fibrin or fibrinogen and, less commonly, C3, IgM, IgG, and IgA

54
Q

Palate

A

clear cell carcinoma of salivary gland (CCC) (AKA hyalinizing clear cell carcinoma)

55
Q

tumor behind the tympanic membrane

A

jugulotympanic (middle ear) paraganglioma

56
Q

Vocal cord

A

vocal cord nodule/polyp

57
Q

salivary gland

A

Salivary duct carcinoma (SDC)

58
Q

Nasopharynx

A

Nasopharyngeal angiofibroma (NAF)

Molecular (7 decks)

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