Diagnostics Flashcards

1
Q

Deletion or mutation of INI—1 (SMARCB1)

A

Epitheloid sarcoma

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2
Q

High risk gist

A

-Gastric gist >5 cm and >5 mitosis per 50 HPFs
-Intestinal gist independent of size with >5 mitosis per 50 HPFs

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3
Q

Renal cell carcinoma mskcc and IMRD scoring

A

Mskcc:
-low KPS (<80%)
-low hgb
-high corrected ca
-<1yrfrom initial diagnosis to systemic therapy
-high LDH (>1.5 ULN)

IMRD:
-Low KPS (<80%)
-low Hgb
-high corrected calcium
-<1 yr from diagnosis to systemic therapy
-ANC high
-plt high

*if ANY of the above criteria is met, the patient is NOT favorable or good risk!

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4
Q

1p19q co-deletion vs 1p19q intact

A

-co-deletion = oligodendroglioma
-intact = astrocytoma

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5
Q

Asttocytoma IDH mutated vs wild type.
What is the grade?

A

Mutated= grade 2-3
Wild type= grade 4

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6
Q

At what stage is bladder cancer considered muscle invasive (MIBC)

A

T2

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7
Q

Bladder cancer staging

A

Stage 0: ta or tis- NMIBC
Stage 1: t1-NMIBC
Stage 2: t2- MIBC
Stage 3: t3-t4 or any N- MIBC
Stage 4: t4, metastatic

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8
Q

Non-seminoma good risk

A

-Testicular or retroperitoneal primary AND
-no non-pulmonary visceral Mets AND
-post- orchiectomy markers all:
-AFP<1000
-hcg<5000
-LDH<1.5 ULN

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9
Q

Non-seminoma intermediate risk

A

-Testicular or retroperitoneal primary AND
-no non-pulmonary visceral Mets AND
-post- orchiectomy markers ANY of:
-AFP<1000-10,000
-hcg<5000-50,000
-LDH<1.5-10x ULN

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10
Q

Non-seminoma poor risk

A

-mediastinal primary OR
-non-pulmonary visceral Mets OR
-post- orchiectomy markers ANY of:
-AFP >10,000
-hcg >50,000
-LDH >10x ULN

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11
Q

Seminoma good risk

A

-any primary site AND
-no non-pulmonary visceral Mets AND
-normal AFP (any hcg and LDH)

*difference is this one has no non-pulmonary visceral mets

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12
Q

Seminoma intermediate risk

A

-any primary site AND
-non-pulmonary visceral Mets AND
-normal AFP (any hcg and LDH)

*difference is this one has non-pulmonary Mets

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13
Q

Seminoma poor risk

A

No Seminomas are poor risk!

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14
Q

Non-seminoma risk factors for relapse

A

-lymphovascular invasion
-spermatic cord invasion
-scrotum invasion

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15
Q

Pediatric ALL standard vs high risk

A

Standard:
-age 1-9.99
-wbc < 50k
-must be B cell lineage

High:
-age <1 or 10+
-wbc > 50k
-presence of CNS 3 or testicular dx
-mrd > 0.01% on day 8 AND at end of induction (day 29) (B cell)
-mrd >0.1 end of consolidation (T cell)
-t-cell lineage
-steroid pre-treatment

*very high risk features: >13y, BCR-ABL, KMT2A, hypodiploidy (<44), induction failure (>5-25% blast at end of induction)

*good risk features: double trisomies 4 and 10, ETV-RUNX1

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16
Q

Pediatric medulloblastoma average vs high risk

A

Average:
-3+ y
-<1.5 cm residual tumor
-M0
-not anaplastic

High risk:
-<3 y
-1.5+ cm residual tumor
-Metastatic
-anaplastic

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17
Q

Neuroblastoma MS (aka 4S)

A

Metastatic dx in children <18 months with Mets confined to skin, liver, and/or bone marrow

Observation. Most spontaneously regress with favorable genetics (below):
-<10% malignant cells in BM
-no MYCN or 11q aberration

Treat as high risk if unfavorable genetics

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18
Q

Define high volume prostate CA (when we add docetaxel)

A

Visceral Mets or 4+ bone Mets (at least 1 outside vertebral column/pelvis)

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19
Q

What grade is high grade serous ovarian cancer?

A

Grade 2-3

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20
Q

Group A (low risk) pediatric Burkitts

A

Completely resented stage I and abdominal stage II

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21
Q

Group B (intermediate) pediatric Burkitts

A

-mx extra abdominal sites
-non-respected Stage I-IV
-marrow blasts <25%
-no CNS dx

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22
Q

Group C (high risk) pediatric Burkitts

A

->25% marrow blasts and/or CNS dx

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23
Q

Khorana score

A

2+: DVT ppx x6 months
<2: no DVT ppx needed

xarelto 10 mg QD or eliquis 2.5 mcg BID

2pts: stomach or pancreatic cancer
1pt: lung, gyn, testicular, bladder, lymphoma, plt >350, Hgb <10 or ESA, leukocyte >11, BMI 35+

Note: not used for MM, acute leukemia, myeloproliferative neoplasms, primary/metastatic brain tumors

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24
Q

Impede/saved scores

A

For AC in multiple myeloma pts
-saved is for pts on IMiDs and impede is for MM pts in general

-impede 1-3, saved <0-1: daily Asa
-impede 4+ or saved 2+: AC

Lovenox 40 QD, dalt 5000 Iu QD? warfarin, Apix 2.5 BID, xarelto 10 QD, fondaparinux 2.5 qd

don’t need ppx in IMiD maintenance

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25
Q

HR positive vs negative

A

HR negative: Stain <1% HR receptors

HR positive: stain 1-100%

*1-10% still get endocrine therapy but likely less benefit

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26
Q

HER2 postive vs negative

A

Negative: IHC 0, IHC 1, IHC 2 and fish negative

Positive: IHC 3, IHC 2 and fish positive

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27
Q

Who qualifies for breast cancer gene expression assays?

A

Post-menopausal or >50y, HR+, HER-2-, LN negative or 1-3 LN +

-Can also use OncotypeDx in premenopausal if they meet above criteria and LN negative
-prosigna only for LN negative

T3 (>5 cm) will need chemo so don’t bother with assay

Note: oncotype is prognostics AND predicative

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28
Q

How is HER-2 low defined

A

HER IHC 1+ or 2+ FISH negative

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29
Q

Define aggressive variant prostate cancer

A

Fill in this answer

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30
Q

Breast cancer pN1

A

1-3 LN +

If n2 or more this means >4 LN

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31
Q

Definition of AML

A

> 20% blasts

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32
Q

Philadelphia chromosome

A

t(9;22)

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33
Q

Hallmark of APL

A

Blasts with t(15;17)

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34
Q

Core binding fx (AML)

A

inv(16), t(16;16), t(8;21)

add Gemtuzumab ozagamicin (don’t need CD33+ listed)

This is actually favorable risk (as is t(15;17)- so would NOT consolidate with HCT

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35
Q

APL risk stratification

A

Low/intermediate: wbc<10k
High: wbc>10k

Note: APL is M3 subtype of AML

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36
Q

NMIBC risk stratification

A

Low risk:
-Ta (low grade), solitary, <3cm

Intermittent risk:
-Ta (low grade): recurrence in <1y, >3cm, or multifocal
-Ta (high grade) <3 cm
-T1 (low grade)

High risk:
-Ta (high grade) recurrent, >3cm, multifocal
-T1: high grade
-Tis

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37
Q

Laboratory TLS criteria

A

2 or more of the following:
-UA>8
-phos >4.5 (6.5 for kids)
-k >6
-corrected ca <7 (or ionized<1.12)
-scr >1.5 ULN

Note: typically happens 12-72 hours after starting chemo (up to 7 days)

Note: increased risk with high LDH >2xULN or WBC>25k, BL renal impairment, BL elevated UA

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38
Q

In which diseases do patients have the Philadelphia chromosome ?

A

CML and ALL

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39
Q

Richters transformation

A

When CLL becomes an aggressive lymphoma:
-B symptoms
-lymphadenopathy
-highly symptomatic

-This usually occurred earlier (1-2yrs) than progressive CLL
-poor outcomes
-90% become DLBCL
-10% become HL

Get them to allo HCT (interesting bc this is DLBCL (90%) of HL (10%) which usually gets ASCT)

NOTCH1 mutation associated with this and shorter PFS

40
Q

Which chronic leukemia is divided into 3 phases

A

CML

41
Q

Gold standard definition of complete response in CML

A

0% Ph+ metaphases

42
Q

T315I mutation

A

CML resistance to imatinib, dasatinib, nilotinib, bosutinib

43
Q

Follicular lymphoma cytogenetics

A

t(14;18)—>BCL-2

44
Q

Mantle cell lymphoma cytogenetics

A

t(11;14)—>BCL-1

CD5+, CD23-

45
Q

Non-advance prostate risk groups

A

very low
-cT1c, grade 1 (Gleason 6), PSA<10, <3 bx cores + and <50% CA in each core, PSA density <0.15

low
-cT1-2a, grade 1, PSA<10

intermediate
-cT2b-cT2c, grade 2-3, PSA 10-20
-Favorable: 1 IRF, grade 1-2, <50% bx cores +
-unfavorable: 2-3 IRF, grade 3, >50% bc cores +

High risk
-T3a or grade 4-5 (grade 4 is Gleason 8), or PSA >20

very high risk
One or more of:
-T3b-T4, Gleason 5, >4 cores with grade 4-5, or 2-3 HRF

46
Q

Multiple myeloma high risk and high risk cytogenetics

A

high risk dx
1. High risk cytogenetics
-del (17p)
-t(4;14)
-t(14;16)
-amplification 1q (>3 copies)
2. Circulating plasma cells in blood
3. extra-medullary plasmacytoma

gravitate towards KRD (carfilzomib)
________________________________________

Others:
-t(14;20)
-gain 1q
-del 1p
-del 13q
-very high LDH (>2x ULN)

47
Q

Clinical risk in BC

A

Remember 4 to determine high risk:

-grade 1, > 3cm
- grade 2 , >2 cm
-grade 3, >1 cm

48
Q

Multiple myeloma diagnosis

A

BMPC >/=10% OR bx proven plasmacytoma/bone lesion

AND
Any of the CRAN criteria
Ca: >11 or >1 above ULN
Renal: scr >2, crcl<40
Anemia: <10 or >2 below ULN
Bone: 1+ bony lesion on imaging

OR
Any of the SLiM criteria
-BCPC >60%
-involved:uninvolved FLCR >/=100 (or<0.1)
- > 1 focal marrow lesion 5mm+ on mri (not just 1)
(Sixty, Light chains, MRI)

49
Q

Double/triple hit DLBCL

A

MYC rearrangement, in addition to BCL-2 and/or BCL-6 rearrangements

High grade

50
Q

Reed stern berg cytogenetics

A

CD15 and CD30

Hodgkin’s

51
Q

Bulky disease DLBCL

A

NCCN: 7.5cm (maybe 10 cm)

52
Q

Breast cancer staging

A

Early stage: IA-IIA

Locally advanced: stage IIB-III

Advanced: stage 4

53
Q

Gleason score

A

Grade 1: 3+3
Grade 2: 3+4
Grade 3: 4+3
Grade 4: 4+4
Grade 5: 4+5, 5+4, 5+5

-the first number is the most common grade among the cores, second number is next most common

54
Q

Free PSA

A

Free PSA is associated with benign condition- so if low (<10%) it’s more likely prostate cancer

55
Q

Define menopause

A

-bilateral oopherectomy
-60+ y/o
-<60 w/ 12 months amenorrheic
-can’t assign menopause status to women on LHRN antagonist or on chemo

56
Q

Higher risk MDS

A

-IPSS: intermediate-2 or high risk

-IPSS-R: intermediate (>3.5), high or very high

-WHO: high or very high

57
Q

Types of thyroid cancer

A
  1. Differentiated
    -papillary
    -follicular
    -Hurthle cell
  2. Medullary thyroid carcinoma
  3. Anaplastic thyroid cancer
58
Q

4 types of ovarian cancer

A
  1. Serous (70%) most common
  2. Endometriod (10%)
  3. Clear cell (10%)
  4. Mucinous (3%)
59
Q

subtypes of ALL

A

-precursor B-cell
-mature B-cell
-T-cell
-pro-b cell (poor risk)

60
Q

PSA relapse

A

After surgery: any PSA rise (usually proceed to salvage RT)

After RT: increase of 2 from PSA nadir (nadir is 3-6 mo after RT)- assess for CS vs CR and PSADT

61
Q

Types of T-cell lymphoma

A

Indolent
-mycosis fungoides
-Sezary syndrome

Aggressive
-peripheral T-cell lymphoma (PTCL)
-extranodal NK/T-cell lymphoma

62
Q

Cholangiocarcinoma

A

Cancer of gallbladder or bile duct

63
Q

Cholangiocarcinoma

A

Cancer of gallbladder or bile duct

64
Q

Types of testicular cancer

A

Seminoma
-classical
-anaplastic
-spermatocytic

Non-Seminoma
-embryonal
-yolk sac
-choriocarcinoma
-teratoma

Stromal (usually beningn but bad if they spread bc unresponsive to chemo)
-leydig
-seratoli

65
Q

What are the four mmr proteins

A

-MLH-1
-MSH-2
-MSH-6
-PMS-2

There are DNA repair genes

66
Q

MSS and pMMR

A

MSS: Micro satellite stable

pMMR: MMR proficient

67
Q

ABCDEs of melanoma

A

Asymmetry
Borders are irregular
Color
Diameter >6mm
Evolving characteristics

Others:
-bleeding or crusting
-sensory change
-inflammation

68
Q

Carcinoma vs sarcoma

A

Carcinoma: epithelial tissue

Sarcoma: connective tissue

69
Q

TMB

A

Tumor mutational burden- measurement somatic mutations per coding area of tumor genome

70
Q

Main types of non-melanoma skin cancer

A

-Basal cell carcinoma
-squamous cell cancer
-Merkel cell carcinoma

71
Q

High risk colon cancer

A

T4 or N2

6 months of therapy better here

72
Q

MSI vs dMMR

A

dMMR (test w/ IHC) results in MSI (PCR)

Micro satellites are repeating deferments of DNA found throughout genome- can have lots of mutations bc lots of repeats. Leads to lots of diversity, but also mutations that can cause malignancy

MMR proteins repair mutations- if there is a loss of one of these (as in with hereditary syndromes) we can’t repair mutations and this can cause cancer

MMR deficient just means there’s and absence of these repair proteins. And this will result in MSI, which correlates with high mutational burden in the tumor

Note: it’s sometimes better to have high mutational burden bc it’s makes it easier for immune system to recognize- also note chemo may be bad is some cases bc it blunts the immune system and makes it harder for it to kill the cancer (think stage II colon cancer)

-MLH-1
-MSH-2
-MSH-6
-PMS-2

73
Q

Stage 2 colon cancer high risk factors

A

-poorly or undifferentiated
-lymphatic/vascular invasion
-bowel obstruction
-<12 LN surgically examined
-perineural invasion
-localized perforation
-close, intermediate, or positive margins
-tumor budding
-T4??

74
Q

Mycosis fungoides vs sezary syndrome

A

MF effects skin, SS effects skin but large amounts end up in blood- I think SS is basically more advanced- more systemic options upfront

75
Q

Hodgkin’s lymphoma: unfavorable factors for early stage

A

-ESR 50+
-B symptoms
-mediastinal mass ratio (MMR) >0.33
->3 LN+
-bulky dx (any node >3 cm)

76
Q

CLL poor prognosis markers

A

-CD49d >30%
-CD38 >30%
-ZAP-70 >20%
-IGHV </=2% mutated (aka 98+% homologous with germline sequence)
-TP53 mutated (del17p)
-del(11q)

Note: del(13q) as sole abnormality is associated with good prognosis

77
Q

Carcinoma vs sarcoma

A

Carcinoma: Starts in epithelial tissue

Sarcoma: connective tisssue

78
Q

Hairy cell leukemia

A

-Indolent mature B cell leukemia
-Incurable
-nearly all pts have BRAFV600E mutation

79
Q

Oligometastatic

A

Limited metastatic disease (one or two sites)

80
Q

Extramedullary disease

A

Aggressive multiple myeloma that forms tumors outside bone marrow in soft tissue

81
Q

IDH wildtype astrocytoma

A

Considered grade 4

82
Q

Colorectal cancer screening

A

Starting at ages 45-75years:

-Colonoscopy every 10 years
-flexible sigmoidoscopy q5-10 years
-CT colography q5 years
-FIT-DNA test q1 or q3 years
-fecal occult blood or fecal immunohistochemisty (FIT) q1yr

83
Q

Lung cancer screening

A

Complete this notecard

84
Q

CEA (notecard in progress)

A

-colorectal

Greater than 5 is elevated

85
Q

Lung cancer screening

A

-50+ y/o, 20+ pack year hx, current smoker or quit within past 15 years
-low dose CT annually

86
Q

CML molecular response goals for

A

BCR::ABL1 as follows:

3 months: <10%
6 months: <1%
12 months: <0.1% (MMR-major molecular response)

87
Q

Who needs genetic testing

A

Pts with advanced or Metastatic cancer where there are mutations with approved drugs

So all advanced solid tumors- bc TMB, DMMR and NTRk

Testing includes direct tissue based as well as cfDNA (note that these aren’t great at detecting germline mutations)

88
Q

Prostate cancer screening

A

Don’t screen if <55 or >69 or LE<10 y

55-69 yr: shared decision making

89
Q

Breast cancer screening

A

ACS
45-54: yearly mammograms
55+: every other year (until LE<10y)

NCCN
40+: annual mammogram

Add MRI if BRCA of 1st degree relative if BRCA or lifetime risk >20-25%, prior RT

90
Q

Cervical cancer screening

A

<21: no screening
21-29: cytology (pap smear): q3 y
30-65: pap q3y + hpv q5y or both q5y
66+: no screening unless high risk

91
Q

Endometrial cancer subtypes

A

Epithelia adenocarcinomas:
-Endometriod: most common, well differentiated, low grade
-serous, clear cell: poorly differentiated, and high grade, don’t use HT for these
-others: mucinous, carcinosarcoma (MMMT)

92
Q

Which cancers is lynch syndrome associated with?

A

Colorectal, gastric, small intestine, ovarian, endometrial, pancreas, liver, urinary tract, biliary tract, brain, sebatious tumors of the skin

93
Q

HCC screening

A

-screen patients with cirrhosis or hepatitis B
-ultrasound and AFP every 3-6 months

94
Q

Breast cancer luminal A vs luminal B

A

Luminal A
-responds better to HT
-late recurrence

Luminal B
-responds better to chemo
-early recurrence

95
Q

FL, DLBCB, MCL, HL treatment categories

A

FL
-stage I-II contiguous
-stage II non-contiguous
-stage III-IV
-anything grade 3

MCL
-stage I or contiguous stage II, non-bulky
-stage II non-contiguous, non-bulky
-stage II bulky, stage III-IV

DLBCL
-stage I-II non-bulky
-stage I-II bulky
-stage II extensive mesenteric dx, stage III-IV

HL
-Stage IA-IIA favorable (non-bulky)
-stage I-II unfavorable (bulky or B symptoms)
-stage III-IV