Diagnostics Flashcards
Deletion or mutation of INI—1 (SMARCB1)
Epitheloid sarcoma
High risk gist
-Gastric gist >5 cm and >5 mitosis per 50 HPFs
-Intestinal gist independent of size with >5 mitosis per 50 HPFs, or >10 cm
-Or tumor rupture
Renal cell carcinoma mskcc and IMRD scoring
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!
1p19q co-deletion vs 1p19q intact
-co-deletion = oligodendroglioma
-intact = astrocytoma
Asttocytoma IDH mutated vs wild type.
What is the grade?
Mutated= grade 2-3
Wild type= grade 4
At what stage is bladder cancer considered muscle invasive (MIBC)
T2
Bladder cancer staging
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
Non-seminoma good risk
-Testicular or retroperitoneal primary AND
-no non-pulmonary visceral Mets AND
-post- orchiectomy markers all:
-AFP<1000
-hcg<5000
-LDH<1.5 ULN
Non-seminoma intermediate risk
-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
Non-seminoma poor risk
-mediastinal primary OR
-non-pulmonary visceral Mets OR
-post- orchiectomy markers ANY of:
-AFP >10,000
-hcg >50,000
-LDH >10x ULN
Seminoma good risk
-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
Tumor markers don’t matter for seminoma aside from having normal AFP
Tumor site doesn’t matter for seminoma
Seminoma intermediate risk
-any primary site AND
-non-pulmonary visceral Mets AND
-normal AFP (any hcg and LDH)
*difference is this one has non-pulmonary Mets
Tumor markers don’t matter for seminoma aside from having normal AFP
Tumor site doesn’t matter for seminoma
Seminoma poor risk
No Seminomas are poor risk!
Non-seminoma risk factors for relapse
-lymphovascular invasion
-spermatic cord invasion
-scrotum invasion
Pediatric ALL standard vs high risk
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 (makes WBC falsely low so can’t use WBC count to risk stratify)
*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
Pediatric medulloblastoma average vs high risk
Average:
-3+ y
-<1.5 cm residual tumor
-M0
-not anaplastic
High risk:
-<3 y
-1.5+ cm residual tumor
-Metastatic
-anaplastic
Neuroblastoma MS (aka 4S)
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
Define high volume prostate CA (when we add docetaxel)
Visceral Mets or 4+ bone Mets (at least 1 outside vertebral column/pelvis)
What grade is high grade serous ovarian cancer?
Grade 2-3
pediatric Burkitts risk groups
Group A (low): Completely resected stage I and abdominal stage II
Group B (Int):
-mx extra abdominal sites
-non-respected Stage I-IV
-marrow blasts <25%
-no CNS dx
Group C (high): ->25% marrow blasts and/or CNS dx
Khorana score
2+: DVT ppx x6 months
<2: no DVT ppx needed
xarelto 10 mg QD or eliquis 2.5 mcg BID x6 MONTHS or more
Or dalt 200 u/kg sq qd x1 mo—>150 u/kg qd x2 mo, or Lovenox 1 mg/kg sq qd x3 mo—>40 mg qd- THESE ARE FOR ADVANCED/MET PANCREATIC
2pts: stomach or pancreatic cancer
1pt: lung, gyn, testicular, bladder, lymphoma, plt >350 (pre chemo), Hgb <10 or ESA, leukocyte >11 (pre- chemo), BMI 35+
Note: not used for MM, acute leukemia, myeloproliferative neoplasms, primary/metastatic brain tumors.
Note: brain, myeloproliferative, and kidney also have high risk of VTE
Note: primary and metastatic brain tumor is a relative contraindication to anticoagulation-NOT ABSOLUTE (but don’t use thrombolytics)
Impede/saved scores
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
Notice save score of 0 still gets aspirin
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
HR positive vs negative
HR negative: Stain <1% HR receptors
HR positive: stain 1-100%
*1-10% still get endocrine therapy but likely less benefit
HER2 postive vs negative
Negative: IHC 0, IHC 1, IHC 2 and fish negative
Positive: IHC 3, IHC 2 and fish positive
Who qualifies for breast cancer gene expression assays?
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 (others are just prognostic)
How is HER-2 low defined
HER IHC 1+ or 2+ FISH negative
Breast cancer pN1
1-3 LN +
If n2 or more this means >4 LN
Definition of AML
> 20% blasts
Philadelphia chromosome
t(9;22)
Also seen as t(9;22)(q34;q11)
P210- most common form of activating kinase region
Other adverse cytogenetics:
-trisomy 8
-trisomy 21
-isochromosome 17q
-chromosome 3 abnormalities
-second ph+
-deletion 7
Hallmark of APL
Blasts with t(15;17)
PML::RARA fusion
Core binding fx (AML)
inv(16), t(16;16), t(8;21 I.e., RUNX1)
add Gemtuzumab ozagamicin (don’t need CD33+ listed)
This is actually favorable risk (as is t(15;17)- so would NOT consolidate with HCT
APL risk stratification
Low/intermediate: wbc<10k
High: wbc>10k
Note: APL is M3 subtype of AML
NMIBC risk stratification
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
Laboratory TLS criteria
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
In which diseases do patients have the Philadelphia chromosome ?
CML and ALL
Richters transformation
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
Which chronic leukemia is divided into 3 phases
CML
Gold standard definition of complete response in CML
0% Ph+ metaphases at 12 months (this is cytogenetic response)
Other types of response:
-hematologic (CHR)- measure blood counts
-molecular (EMR, MMR, DMR)-measures BCR::ABL
T315I mutation
CML resistance to imatinib, dasatinib, nilotinib, bosutinib
Follicular lymphoma cytogenetics
t(14;18)—>BCL-2
Mantle cell lymphoma cytogenetics
t(11;14)(q13;q32)—>BCL-1
CD5+, CD23-
Aggressive disease
-blastoid and pleomorphic subtypes
-TP53 mutatio
-high ki67 >20-40%
-high Sox-11
-complex karyotype
-high b2-microtubulin
-CNS involvement
Non-advance prostate risk groups
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
Multiple myeloma high risk and high risk cytogenetics
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)
MAY WANT DUAL MAINTENANCE (velcade + revlimid)
________________________________________
Others:
-t(14;20)
-gain 1q
-del 1p
-del 13q
-very high LDH (>2x ULN)
Clinical risk in BC
Remember 4 to determine high risk:
-grade 1, > 3cm
- grade 2 , >2 cm
-grade 3, >1 cm
Multiple myeloma diagnosis
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)
Double/triple hit DLBCL
MYC rearrangement, in addition to BCL-2 and/or BCL-6 rearrangements
High grade
Reed stern berg cytogenetics
CD15 and CD30
Hodgkin’s
Bulky disease DLBCL
Hodgkin’s?
NCCN: 7.5cm
Hodgkin’s: 10 cm
Breast cancer staging
Early stage: IA-IIA
Locally advanced: stage IIB-III
Advanced: stage 4
Gleason score
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
Free PSA
Free PSA is associated with benign condition- so if low (<10%) it’s more likely prostate cancer
Define menopause
-bilateral oopherectomy
-60+ y/o
-<60 w/ 12 months amenorrheic
-can’t assign menopause status to women on LHRN antagonist or on chemo
Higher risk MDS
-IPSS: intermediate-2 or high risk
-IPSS-R: intermediate (>3.5), high or very high
-WHO: high or very high
Note SFB1 mutation is good risk
Types of thyroid cancer
- Differentiated
-papillary- 89%
-follicular- 4%
-Hurthle cell -2% - Medullary thyroid carcinoma- 3%
-hereditary (MEN2)
-sporadic (RET, usually RET M918T (somatic) - Anaplastic thyroid cancer- 1.5%
4 types of ovarian cancer
Epithelial adenocarcinomas
1. Serous (70%) most common
2. Endometriod (10%)
3. Clear cell (10%)- poor prognosis
4. Mucinous (3%)
subtypes of ALL
-precursor B-cell
-mature B-cell
-T-cell
-pro-b cell (poor risk)
PSA relapse
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
Types of T-cell lymphoma
Indolent
-mycosis fungoides
-Sezary syndrome
Aggressive
-peripheral T-cell lymphoma (PTCL)
-extranodal NK/T-cell lymphoma
Cholangiocarcinoma
Cancer of gallbladder or bile duct
Cholangiocarcinoma
Cancer of gallbladder or bile duct
Types of testicular cancer
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
What are the four mmr proteins
-MLH-1
-MSH-2
-MSH-6
-PMS-2
There are DNA repair genes
MSS and pMMR
MSS: Micro satellite stable
pMMR: MMR proficient
ABCDEs of melanoma
Asymmetry
Borders are irregular
Color
Diameter >6mm
Evolving characteristics
Others:
-bleeding or crusting
-sensory change
-inflammation
Carcinoma vs sarcoma
Carcinoma: epithelial tissue
Sarcoma: connective tissue
TMB
Tumor mutational burden- measurement somatic mutations per coding area of tumor genome
Main types of non-melanoma skin cancer
-Basal cell carcinoma
-squamous cell cancer
-Merkel cell carcinoma
High risk colon cancer
T4 or N2
6 months of therapy better here
MSI vs dMMR
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
Stage 2 colon cancer high risk factors
-poorly or undifferentiated
-lymphatic/vascular invasion
-bowel obstruction
-<12 LN surgically examined
-perineural invasion
-localized perforation
-close, intermediate, or positive margins
-tumor budding
-T4??
Mycosis fungoides vs sezary syndrome
MF effects skin, SS effects skin but large amounts end up in blood- I think SS is basically more advanced- more systemic options upfront
Hodgkin’s lymphoma: unfavorable factors for early stage
Any of these factors places pt in UNFAVORABLE category
-ESR 50+
-B symptoms
-mediastinal mass ratio (MMR) >0.33
->3 LN+
-bulky dx (any node >10 cm)
CLL poor prognosis markers
-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
Carcinoma vs sarcoma
Carcinoma: Starts in epithelial tissue
Sarcoma: connective tisssue
Hairy cell leukemia
-Indolent mature B cell leukemia
-Incurable
-nearly all pts have BRAFV600E mutation
Oligometastatic
Limited metastatic disease (one or two sites)
Extramedullary disease
Aggressive multiple myeloma that forms tumors outside bone marrow in soft tissue
IDH wildtype astrocytoma
Considered grade 4
Colorectal cancer screening
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
Lung cancer screening
(NCCN doesn’t include current smoker or quit in past 15 yrs)
50+ and 20 pack year hx
USPSTF includes quit it past 15 yrs
CEA (notecard in progress)
-colorectal- monitoring response to tx
Greater than 5 is elevated
5FU can increase CEA
Lung cancer screening
-50+ y/o and 20+ pack year hx
-low dose CT annually
(NCCN doesn’t include current smoker or quit in past 15 yrs)
USPSTF includes quit it past 15 yrs
CML molecular response goals for
BCR::ABL1 as follows:
3 months: <10%
6 months: <1%
12 months: <0.1% (MMR-major molecular response)
Who needs genetic testing
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 (gold standard) as well as cfDNA (note that these aren’t great at detecting germline mutations)
Prostate cancer screening
Don’t screen if <55 or >69 or LE<10 y
55-69 yr: shared decision making
Breast cancer screening
ACS
45-54: yearly mammograms
55+: every other year (until LE<10y)
NCCN
40+: annual mammogram
Add MRI if BRCA of 1st degree relative or BRCA of yourself, or lifetime risk >20-25% (BRCAPRO or tyer cuzick), prior RT
Women 25+: breast awareness NOT self exams
High risk:
-CBE q6-12mo when identified as high risk but not before 21, or 8 y after RT
-mammogram annually starting at age 30 or: 8y after RT but not before age 30, 10 y before youngest family member but not before age 30, at diagnosis of LCIS/AHA but not before age 30, when identified as high risk by Gail model
-MRI annual w/ mammogram for women 25+ or: same exceptions as above fir mammogram
-breast awareness: all ages
High risk= thoracic RT age 10-30, 35+ w/ Gail >1.7%, bannayan-Riley-Ruvalcaba, cowdens (PTEN), li-fraumeni, lifetime risk 20%+ (BRCAPRO, tyrer cuzick, BOADICEA/CanRisk, pedigree suggestive or risk, ADH, LCIS
Also peutz jeghar (STK11)
Cervical cancer screening
<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
HPV 16 and 18 cause cancer
Endometrial cancer subtypes
Epithelia adenocarcinomas:
-Endometriod: most common, well differentiated, low grade
-serous, clear cell: poorly differentiated, and high grade, don’t use HT for these
-Carcinosarcoma aka malignant mixed mullerian tumor (MMMT)
Which cancers is lynch syndrome associated with?
What’s another name for this?
Colorectal,gastric, small intestine, ovarian, endometrial, pancreas, liver, urinary tract, biliary tract, brain, sebatious tumors of the skin
Hereditary non-polyposis colorectal cancer
HCC screening
-screen patients with cirrhosis or hepatitis B
-ultrasound and AFP every 3-6 months
Breast cancer luminal A vs luminal B
Luminal A
-responds better to HT
-late recurrence
Luminal B
-responds better to chemo
-early recurrence
FL, DLBCB, MCL, HL treatment categories
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
thyroid cancer tumor markers
Differentiated: Thyroglobulin (only if thyroidectomy since normal thyroid cells can secrete it also) Should look at Tg antibodies too
Medullary: CEA and calcitonin, NOT thyroglobulin
Anaplastic: none
When to do brain MRI in testicular cancer?
HCG>5000, extensive pulmonary Mets, non-pulmonary visceral Mets
Risk factors for deciding on tx for low grade gliomas
-age >40
-tumors >6 cm
-tumors that cross midline
-incomplete resection
-neurological deficit at baseline
BCR-ABL tki resistance patterns
A337VT: no recs (resistance to Asciminib)
E255K/V: use bosutinib/dasatinib
F317L: use nilotinib
F317V/I/C: use bosutinib/nilotinib
F359V/I/C: use bosutinib/dasatinib
G250E: use dasatinib
L238V: use bosutinib/ nilotinib
P465S: no rec (resistance to Asciminib)
T315I: use Asciminib/omacetaxine/Ponatinib
T315A: use bosutinib/nilotinib
V299L: use nilotinib
Y253F/H: use bosutinib/dasatinib
Tricks:
-Fickle-little Vicky: you ain’t getting Nil
-Ayyyyyy: no recs!!!
-Fickle 317 VICky and TA loves a BoNe
-Fickle 359 Vicky eats yellow- BaD!
-Gee dassss
-
Waldenstrom macroglobulinemia genetics with best response to BTK
MYD88 mutated (defining mutation of WM)
CXCR4 wildtype (mutated CXCR4 is associated with resistance)
Saved score
Risks:
-age >80: +1
-surgery within 90d: +2
-VTE hx: +3
-dex 120-160 mg/cycle: +1
-dex >160 mg/cycle: +2
Protective:
-Asian: -3
2+: Lovenox 40 QD, Fonda 2.5 QD, Apix 2.5 bid, xarelto 10 qd, warfarin 2-3
<2: Asa 81-325 qd
—————-/////—————/////———
Impede risks:
-IMiD, bmi>25, pelvic/hip/femur fx, ESA, dex, dox or mx agent chemo, VTE hx, tunneled line or Cvc,
Protective; Asian, VTE ppx or Tx dosing
Double expresser lymphoma
Co-expression (unlike double hit which is rearrangement if MYC and BCL2 proteins without underlying rearrangements
It’s and adverse prognostic indicator
IPI variables for intermediate to high grade lymphoma
-age>60
-stage III-IV
-extranodal dx >1 site
-ECOG 2+
-serum LDH >1x ULN
Burkitts low v high risk
Low:
-normal LDH
-stage I completely resected abdominal lesion
-single extra abdominal lesion <10 cm
High risk:
-stage I and an abdominal mass
-extra abdominal mass >10 cm
-stage II-IV
Melanoma screening
Monthly self assessments
Survivors: skin exam at least once per year for rest of your life
Lung cancer: who do we see EGFR mutations in?
Female, light or never smokers, asians
Which malignancies have bi-modal age distribution?
-ALL
-Hodgkin’s lymphoma
-osteosarcoma
-germ cell tumors
-breast cancer
Which malignancies have bimodal age distribution?
-ALL
-Hodgkin’s lymphoma
-osteosarcoma
-germ cell tumors
-breast cancer
P16
-surrogate for HPV tumor in head and neck cancer
-results from RB1 degradation
-required at diagnosis of oropharyngeal cancers
Cancers linked to EBV
-Hodgkin’s
-nasopharyngeal
-Burkitts
-gastric
-PCNSL
-DLBCL
think lymphomas
Cisplatin eligibility in bladder cancer
-Crcl>60
-ECOG PS 0 or 1
-adequate hearing
CA19-9
Monitoring (not screening) pancreatic cancer and other GI cancers
Elevated in biliary inflammation, obstruction, or infection so must wait til bili returns to normal to get accurate level
will be negative in Lewis negative blood group
What does lynch syndrome tell you?
MSI-H!!!!
Colon ascending/descending left v right sided
Ascending and transverse (hepatic flexure to splenic flexure- right
Descending (splenic flexure to rectum), sigmoid- left
Ovarian cancer screening
-Don’t do in general population
-for women with BRCA mutation who won’t do risk reducing saplings oophorectomy at age 35-45
-do transvaginal ultrasound and CA-125 beginning age 30-35
Note: oral contraceptives decrease risk (but increases risk of breast cancer)
Define metachronus
Had disease and was treated earlier, now pops up with metastatic disease
Who gets screened for endometrial cancer
-Women with lynch syndrome
-endometrial biopsy every 1-2 years starting at age 30-35 years old
Recommend BSO and hysterectomy after child bearing
Match syndrome to gene:
autosomal dominant
Hereditary diffuse gastric
Peutz Jeghers
Juvenile poly posits
Lynch (hereditary non-polyposis colon CA)
Familial adenomatous polyposis
Hereditary breast and ovarian CA synd
Li fraumeni
Cowden
Autosomal recessive
Bloom
Fanconi
Match syndrome to gene:
Hereditary diffuse gastric: CDH1
Peutz Jeghers: STK11
Juvenile polyposis: SMAD4 or BMPR1A
Lynch: you know
Familial adenomatous polyposis: APc
HBOCS: BRCA1 or BRCA2
Li fraumeni: TP53
Cowden: PTEN
Autosomal recessive
Bloom: BLM/RECQL3
Fanconi: FABCD1, BRCA2, FANCN (PALB2)
Other idk:
-werner: RECQL2
-gorlin: PTCH1
-Tuberous sclerosis: TSC1/2
Gardner: APC
Gastric cancer risk fx
-CDH1 loss
-h. Pylori
-high salt
Child Pugh A
Score of 5-6 or less
2 Points for:
-bili>2
-albumin <3.5
-INR>1.7
-ascites
-encephalopathy
Minimum score is 5 bc 1 point automatically- for each, so basically look for any 2 of the above or less if really severe
Benign brain tumors
-Meningioma
-schwannoma
-pituitary adenoma
Differentiating b/w chronic, accelerated and blast phase CML
Chronic: blasts<10%
Accelerated: blasts 15-30%, basophils >20%, plt<100
Blast: >30%
Gelf criteria
When do treat follicular lymphoma:
-3 LN+ each 3+ cm
-any node or mass 7cm+
-splenomegaly
-organ compression
-B symptoms
-cytopenias (wbc<1, plt<100)
-leukemia (>5k malignant cells)
-pleural effusion or ascites
Aggressive variant prostate cancer
AVPC-C: small cell, exclusively visceral Mets, predominantly lyric bone Mets, bulky lymphadenopathy or Gleason 8+, psa<10 + 20+ bone Mets, elevated ldh or CEA, <6 months response to ADT
AVPC-MS: defect in 2 of 3 tumor suppressor genes: TP53, RB1, PTEN
Another name for Waldenstroms macroglobulinemia
Lymphoplasmacytic lymphoma
What does CD34 mean?
Blast
AML favorable risk
-core binding fx
-NPM1 (without FLT-3)
-t(15;17)
-in frame bZIP in CEBPA
Tumor markers in non-seminoma subtypes
Embryonal- HCG and AFP
Yolk-sac- AFP
Choriocarcinoma- HCG
Teratoma- none
How to assess for response to AML induction
Bone marrow at day 14 to see that blasts <5%, then upon recovery (ANC >1000, plt>100k) repeat marrow to confirm still at blast <5%, then you can do consolidation
EGFR rash grading
Grade 1: <10% bsa
Grade 2: 10-30% bsa or >30% mild or no symptoms
Grade 3: >30% with symptoms limiting ADLs
Grade 4: life threatening or superinfection requiring iv abx- Any amount of bsa
Auer rods
AML
CD10
B-ALL
Also CD19 and CD20
CML risk fx
Radiation
CML risk fx
Radiation
Cancer associated with HIV
-Kaposi sarcoma
-Hodgkin’s lymphoma
-NHL (Burkitts, PCNSL esp.)
-cervical
Radioactive iodine scan
-I-131
-thyroid cells take up iodine to make thyroid hormone
-suspicious areas don’t take it up
-iodine free diet before to avoid messing with results
-stop levoxyl before bc works better with high TSH (give thyrotropon before)
Cancers linked to hpv
Cervical, vaginal, vulvar, penile, anal
Oropharyngeal, esophageal
