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H/O RC > NBl/Renal > Flashcards

NBl/Renal Flashcards

1
Q

Hereditary NBl epi and mutations/syndromes

A

1-2% are familial

ALK
PHOX2B
Predispositions: Turner, NF1, BWS, LFS, Noonan

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2
Q

NBl genetics (top 3 and others) and px significance

A

MYCN amplification (>4-10 copies by FISH; 20%)
- strongest px factor

Poor cytogenetics:
- LOH 1p36 (20-30%)
- del14q
- del11q
- gain 17q

DNA index
- near diploid/tetraploid is unfavourable
- hyperdiploid favourable

Others
- ATRX inactivating mutation: aggressive, poor px
- TERT (10%)
- ALK amplification (4%) or activating mutations (15%); traget crizotinib, lorlatinib
- rare: p53, PTPN11, Ras/MAPK

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3
Q

NBl IHC

A

small round blue cells
NSE, synaptophysin, chromogranin A, PGP 9.5, GD2

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4
Q

what proportion of NBl are HVA/VMA neg? MIBG nonavid?

A

10-15%
10% MIBG non-avid

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5
Q

NBl path types (3)

A

Neuroblastoma: neuropil, more differentiated
Ganglioneuroblastoma: Schwannian background with random distribution of cells
Ganglioneuroma: little neuropil, individually scattered cells

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6
Q

NBl Shimada Classification elements

A

age
stromal component
degree of differentiation
MKI

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7
Q

Sites for NBl

A

40% adrenal
25% abdo
15% thoracic
5% cervical
5% pelvic sympathetic ganglia

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8
Q

2 NBl paraneoplastic syndromes

A

OMAS
- opsoclonus: rapid chaotic eye movements
- ataxia
- myoclonus
- behaviour changes

VIP: intractible watery diarrhea

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9
Q

NBl % metastatic, and sites

A

70% metastatic (lymph and hematog spread)

LN (1/3 local LN invasion)
bone
BM
skin
liver
Rare: CNS, lung

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10
Q

OMAS epi, pathophys, tx

A

2-4% of NBl, 50-70% of OMAS has NBl

anti-NBl Ab cross-reactive with Purkinje cells

Tx: tx neuroblastoma, steroid, IVIG, ritux, cyclophosphamide

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11
Q

NBl staging ix

A

CBCD, LDH
HVA/VMA
CT/MRI local/met sites
MIBG (10% nonavid)
bilat BMA/B (biopsy not required <6mo)

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12
Q

NBl INRG staging

A

L1: localized in 1 body compartment, not involving vital structures
- isolated intraspinal extension
L2: ipsilateral locoregional with 1+ IDRF
M: distant mets
MS: mets (skin, liver, BM) <18mo

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13
Q

NBl INRG px features

A

stage
age
histologic category
grade
MYCN
11q aberration
ploidy

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14
Q

NBl RT indications

A

HR: tumor bed and residual metastatic disease at end of induction

LR/IR: organ/life-threatening symptoms

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15
Q

NBl chemo

A

cyclo/topo
cisplat/etop
VDC

thio/cyclo
CEM: carbo, etop, melphalan

isotretinoin
dinutuximab

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16
Q

NBl risk stratification

A

LR:
- L1
- MS <12mo fav bio

IR:
- L2 <18 mo or >18 mo fav histo
- M <12 mo or 12-18 fav bio
- MS <120 w sympto or unfav bio, or 12-18 mo fav bio

HR:
- MYCNA
- L2 18m-5y UH or <5y undiff/poorly diff
- M 12-18m unfav bio or >18 mo
- MS 12-18m unfav bio

unfav bio: UH, ploidy=1, SCA (-1p or -11q)

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17
Q

Tx schema LR NBl

A

observe MS
Resection only
chemo or RT for organ/life threatening

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18
Q

Tx schema IR NBl

A

2-8 cycles VDC
resection
RT for organ/life threatening

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19
Q

Tx schema HR NBl

A

induction: chemo x5 (VDC, cisplat/etop, cyclo/topo)
consolidation:
- tandem HSC+SC (cyclo/thio, CEM)
- RT 21.6 to 1o bed and EOI mets
Maintenance: dinutuximab, isotretinoin

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20
Q

ANBL0532 results

A

tandem HSCT 3yEFS 73%
single HSCT 3yEFS 54%

21
Q

relapse NBl tx

A

131-I-MIBG
dinutuximab
ALK inhibition (crizotinib, lorlatinib)
topo, temozolamide

22
Q

Do we screen for NBl

A

No
Quebec study
screening increased detection rate but not EFS/OS

23
Q

NBl MS organs

A

skin, liver, BM

24
Q

PHOX2B mutation associations

A

NBl
Hirschsprung
CCHS

25
Q

NBl px by risk

A

5yEFS
LR >90%
IR >85%
HR 63% (from ANBL0532)

26
Q

OMAS px

A

long term neuro complications 20-60%
- ataxia, tremor
- dysarthria
- decreased cognition
- behavioural: hyperactivity, impulsivity, irritability

27
Q

WT predisposition syndromes and risk

A

Denys Drash: >70%
Perlman: >60% (DIS3L2 mutation, overgrowth)
WAGR: 50% (often bilat - wilm, aniridia, GU, dev delay)
BWS: 10%

Other: Bohring-Opitz, FA, DICER1, LFS, Bloom, Sotos, Familial (WT1)

28
Q

WT mutations (incl incidence) and cytogenetics

A

WT1 (15%)
WT2 (30%)
WTX (30%)
CTNNB1 (15%) - WNT activating
TP53 (5% of anaplastic)
DICER1, DIS3L2, DROSHA - miRNA processing gene mutation

1q gain (30%, poor px)
LOH 1p and 16q
MYCN (13%)

29
Q

WT 3 histologic components

A

blastemal: small round blue cells
Epithelial
stromal

30
Q

nephrogenic rests intralobar vs perilobar

A

intralobar: WT1 mutation, WT (b/l), largely stromal

Perilobar: BWS, blastema predominant, 50% develop WT

31
Q

congenital mesoblastic nephroma: epi, genetics, tx

A

1 renal tumor <3mo

ETV6-NTRK3, t(12;15)

Stage I/II: resection (OS 95%)
Stage III/IV: chemo, larotrectinib (TRK inhibitor)

32
Q

renal tumor with sickle cell trait, and hallmark IHC

A

renal medullary carcinoma
loss of INI-1

33
Q

RCC mutations

A

TFE3 gene Xp11.2
TFEB gene 6p21

34
Q

WT px factors

A

stage
>2yo
histology (favourable vs anaplastic)
cytogenetics (LOH 1p and 16q)
lung nodule response
predisposition syndrome
tumor weight (<550g associated with VLR)

35
Q

WT staging

A

I: localized, completely resected
II: completely resected, extension outside kidney (capsule/sinus), LN neg
III: residual abdo disease
IV: residual disease outside abdo
V: bilateral

36
Q

WT staging

A

CT/MR abdo
CXR/CT chest

37
Q

WT chemo regimens

A

EE4A: VCR, actinomycin
DD4a: VCR, actinomycin, doxo
Reg M: VCR, actinomycin, doxo, cyclo, etop
UH-1: VDC, carbo, etop
UH-2: VDC, carbo, etop; VCR/irenotecan

38
Q

WT EFS by risk stratification

A

4yEFS/OS

VLR: 90/100
LR: 90/98
SR: 88/97
HR: 75/85

39
Q

WT RT indications

A

III: flank; whole abdo if spill/rupture, peritoneal implant, + cytology
IV: as above but + met sites

whole lung RT if incomplete response at 6w

anaplastic

relapse

40
Q

WT % anaplastic

41
Q

WT common metastatic sites

A

lung, liver

42
Q

BWS WT screening

A

AUS + AFP q3mo until age 4
then renal US q3mo until age 7

43
Q

WT anaplasia features

A

nuclei 3+x diameter
hyperchromasia
nuclear atypia
atypical mitoses

often TP53

44
Q

frequency of nephrogenic rests in WT

A

unilateral: 30-45%
bilateral: 100%

45
Q

WT heme association

A

acquired VWD, <10%

46
Q

WT COG vs SIOP approach

A

COG:
- resection
- risk directed therapy

SIOP:
- neoadj VCR/actino +-doxo
- resection

47
Q

RCC predisposition syndrome

A

Von Hippel Lindau
aut dom TS gene mutation
60% develop RCC

48
Q

Renal tumors loss of INI-1

A

renal medullary carcinoma (sickle cell trait)
malignant rhabdoid tumor of kidney

49
Q

cystic nephroma predisposition

A

germline DICER mutation

H/O RC (31 decks)

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