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Haem/Onc > Germ Cell Tumours and Retinoblastoma and Rare Tumours, ASPHO > Flashcards

Germ Cell Tumours and Retinoblastoma and Rare Tumours, ASPHO Flashcards

1
Q

Retinoblastoma: presents when?

A

63% before age 2

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2
Q

what % of pts with retinoblastoma have the inherited form?

A

25%

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3
Q

non-heritable rb presents when? heritable?

A

30 months; 15 months

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4
Q

gene in rb?

A

RB1

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5
Q

what is the name for those with RB1 DELETIONS who also have dysmorphic features and intellectual disability?

A

13q deletion syndrome

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6
Q

1.5% of pts with retinoblastoma have ___ mutated INSTEAD of RB1

A

MYCN amplfication

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7
Q

pentrance in RB1 germline?

A

very high!

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8
Q

what percent of RB1 mutations are de novo (no fam hx)

A

75%

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9
Q

% of pts with uniteral RB who have germline mutation?

A

15

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10
Q

% of pts iwth germline mut who end up having unilateral RB

A

15

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11
Q

should do what for pts diagnoed with rb?

A

send to cancer genetics

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12
Q

do what if pt with a history of RB1 has a baby?

A

Exam screening at birth and every 4 weeks until genetic testing is done..if genetic testing positive, conitnue eye exams every 4 weeks

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13
Q

3 phys exam findings associated iwth rb?

A 
leukocoria
strabismus
nsytagmus
glaucoma
perioribital cellultis
buphtlamos
proptosis + lymph nodes
mets
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14
Q

work up for rb?

A
  • eye exam under anestehsia of both eyes
  • ocular ultrasound
  • MRI orbits + brain (look at optic nerve+ rule out trilaternal RB)
  • if advanced diseae, high risk histo after enculeation or extraoccular rb: bone sca BMA/bx and CSF cytology
  • genetic counseling!
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15
Q

ddx for rb? (3)

A

-congential cataracts
-persistent fetal vasculatory
-retinitis, toxoplasma
coats disease
etc

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16
Q

Rb staging 2 principles?

A

eye classification= group

how do we stage patient= stage

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17
Q

international rb classification system: based on what 4 things?:

A
  • tumor size and burden
  • tumor location in relationship to foveola and optic disc
  • subretinal fluid and seeding
  • vitreous seeding
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18
Q

describe group A Rb

A

small tumours away from the foveola and disc

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19
Q

group b rb?

A

all remaining tumours confined to the retina (within 3 mm of foveola or 1.5 mm of optic disc)

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20
Q

group c rb?

A

local subretinal fluid or seeding

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21
Q

group d rb?

A

diffuse subretinal fluid or seeding

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22
Q

group e rb?

A

presence of poor prog features

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23
Q

staging in rb- 2 key concepts?

A

intraocular or extra?…if intra, is it intra-retinal or extra?

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24
Q

stage 0 rb=?

A

get conservative treatment…no enucleation

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25
Q

stage 1-4 RB based on?

A

after enucleation

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26
Q

stage 1 rb?

A

complete resection, including histo

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27
Q

stage 2 rb?

A

microscopic residual tumor after resection

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28
Q

stage 3 rb?

A

regional extesnion= orbital or nodal

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29
Q

stage 4 rb?

A

mets

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30
Q

doctors needed to tx rb? priorities?

A
  • multi-d team with onc, opth, rad onc

- priorities: cure-> eye salvage-> vision presevation

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31
Q

major concepts in tx fo rb?

A
  • ocular presevation vs enucleation
  • risk adapted therapies depnding on if intraocular or orbital or extra-orbital
  • unilat or bilat
  • can you avoid or delay RT for ocular salvage?
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32
Q

problems with RT in RB?

A
  • impact on orbital growth

- risk of second malig if heritable rb

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33
Q

intraocular rb tx: depends on?

A

group, potential for vision, laterality

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34
Q

ocular salvage highest for group _ and lowest for group _

A

a;e

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35
Q

in general ocular salvage not offered to whom?

A

group e and many group d–> get UPFRONT enucleation

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36
Q

decisions for pts with ___ rb is more conservative and decisions regarding ___ is usually ____

A

bilateral; enucleation; delayed

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37
Q

optionis for ocular salvage?

A
  • chemoreduction
  • focal treatments
  • external-beam radiation thearpy
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38
Q

chemo used in rb?

A
  • systemic: VCE= vcr, etop, carbopatin
  • intra-arterial: melphalan, others= carboplatin, topotecan
  • intra-vitreal for vitreous seeds: melphalan
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39
Q

rb focal tx is used to ___ repsonse __ ___; options?

A

consolidate; after chemo; small lesions can have cyrotherpay, thermotherapy…large can have brahcytherapy

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40
Q

when is external beam rads used in rb?

A

when other measures have failed

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41
Q

enucleation done when?

A
  • upfront if group E and many group D (or alternative to ocular salvage)
  • after failure of ocular salvage
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42
Q

give 3 egs of high risk histo in Rb

A 
iris infiltration
ciliary body infiltration
scleral invasion
optic nerve involvement
ant chamber seeding
massive choroidal replacmeent >3 mm
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43
Q

do what if have high risk histo in rb?

A
  • addiitonal staging studies

- risk-adpated therapy

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44
Q

what if you have no high risk histo in rb (intra-retinal)?

A

observation, <95% survival

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45
Q

what if you do have high risk histo?

A
  • bone scan, bm, csf
  • if neg, vcr/etop/cbp x 6…>95% survival
  • if pos, tx for mets
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46
Q

ocular salvage rate in bilateral rb? survival?

A

90%, 90%

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47
Q

orbital disease in rb includes?

A
  • overt orbital diseae
  • trans-scleral diseae
    • cut-end of optic nerve
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48
Q

orbital disease in rb associated iwth?

A

pre-auricular or cervical node disease

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49
Q

tx orbital disease how in rb?

A
  • cispaltin-baed therpay
  • enculeation
  • radiation
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50
Q

sites of met in rb?

A

bone, bone marrow, liver, CNS

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51
Q

tx of extraorbital rb?

A

cisplatin based chemo

consoldiated with high dose chemo and auto transplant

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52
Q

what has a really bad prog in rb?

A

CNS disease

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53
Q

late effects in rb?

A
  • hearing (carboplat)
  • therapy related AML
  • cardiotox
  • facial deformity from rads
  • secondary malig from radiation
  • decreased vision from tumour and tx
  • retinal vasculopaty from tumour, rads, intra-art chemo
  • dry eye from rt
  • secondary malignancies! from rads!
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54
Q

secondary maligs in rb tend to be wehre?

A

head and neck

55
Q

most common secondary malig in rb?

A

osteosarcoma>soft tissue sarcomas (esp leiomyosarcoma), melanoma, lung cancer….maligs most commonly inside rad field

56
Q

trilateral rb=? develps when?

A

bilateral rb+ asynchromous midling intracranila tumour= pineoblastoma…35 months later

57
Q

screen for trilateral rb how?

A

MRI q6 months until 5 yrs of age for kids with bilateral rb

58
Q

GCT age distribution?

A

<3 yrs and adolescence

59
Q

what types of GCTs are seen in <3 yrs?

A

extragonadal; testicular tumours

60
Q

what germ cell tumours are seen in adolescence?

A

gonadal

61
Q

2 main categories of peds GCTs?

A

seminomatous= germinomatous adn non-seminomatous= non-germinomatous

62
Q

seminomatous/germinomatous GCTs include?

A
  • seminoma (testes)
  • dysgerminoma (ovary)
  • germinoma (extra-gonadal)
63
Q

non-seminomatous/non-germinomatous GCTs include? 4

A

Embryonal ca
yolk sac tumor
choriocarcnoma
teratoma

64
Q

embryonal carcinoma: describe

A

undifferentiated cells that histologically resemble embryonal cells from teh blastocyst

65
Q

describe YST

A

most common malig GCT in young kids; has components of embryonic and extraembryonic endoderm

66
Q

describe choriocarcinoma

A

very rare, represents trophoblastic differentiaton

67
Q

describe teratoma:

A

disordered mixture of differentiated cell types from all 3 soamtic cell layers (ectoderm, endoderm, mesoderm)…if a component acquires neuronal differentation, it becomes immautre teratoma

68
Q

type 1 GCT: age group? usually presents as?

A

<4 years; teratoma or YST or a mixture of the two

69
Q

type 2 GCT: age group? often associated with?

A

puberty-young adulthood; presumptive precursor lesion known as germ cell neoplasia in situ (GNCIS), usually seen in normal tissue adjacent to tumour

70
Q

common cytogeneic chages in type 1 GCTs?

A

gain of 1q, 11q, 20q, 22
loss of 1p, 6q, 16q
partial loss of genomic impriting

71
Q

common cytogeni change sin type 2 GCTs?

A

chrom 12 amplification
X chrom amplification
loss of genomic imprinting

72
Q

2 RFs for GCTs?

A 
Klinefelter syndrome
Swyer Sydnrome 46XY
Turner Syndrome 47 XO
Crypto-orchidism
inguinal hernia
hydrocele
73
Q

ovarian GCT pres?

A
  • abdo pain
  • abdo/adnexal mass
  • precocious puberty (granulosa cell tumour)
  • amenorrhea and /or viritlization (sertoli-leydig tumor)
74
Q

sacroccygeal GCT presents?

A

constipation, urinary retention

75
Q

medisatinal GCT presents?

A

chest pain, resp distress

76
Q

testic GCT presents/

A

irreg, non-tedner mass

77
Q

work up for GCT?

A

CT/MRI primary

met work-up bone scan, chest ct

78
Q

RF for metastatic disease in GCTs?

A

extragonadal tumours

79
Q

GCTs: gonadal or extragonadal more common?

A

extra

80
Q

children <15: gct more likely to be gonadal or extra?

A

extra

81
Q

children 15y+: gct more likely to be gonadal or extra?

A

gonadal

82
Q

which tumour associated with high AFP?

A

YST

83
Q

which tumor associated with high b-hcg?

A

choriocarcinoma

84
Q

afp and/or b-hcg could be weakly pos in waht?

A

embryonal ca

85
Q

afp alone could be weakly pos in what?

A

immature teratoma

86
Q

adult AFP levels (<10) normally reached when?

A

8-12 mos

87
Q

AFP half life?

A

5-7 days

88
Q

normal newborn AFP level?

A

40k

89
Q

reaosns why pt with YST may continue to have high AFP on tx?

A
  • not responding
  • jumps with Tumor lysis
  • altered liver function, eg viral hepatitis
  • other malig: eg hepatoblastoma
90
Q

reason for why pt with choriocarcinoma might continue to have high beta-hcg on tx?

A
  • not responding
  • cross reaction with LH due to iatrogenic hypogonadism
  • multiple myeloma
91
Q

GCT staging #s?

A

1-4

92
Q

stage 1 GCT?

A

commplete resection with nroamlization of tumour markers within expected half life

93
Q

stage 4 GCT?

A

distant mets

94
Q

stage 2 GCT?

A

microscopic residual disease: persistent marker elevation; LNs <2 cm

95
Q

stage 3 GCT?

A

gross residual disease; LNs 2 cm+ (or 1-2 cm that fail to resolve within 4-6 weeks), no extra-abdo or visceral mets

96
Q

in testicular germ cell tumour, what surgical approach makes the pateint not eligible for stage 1 disease?

A

scrota biopsy! scrotum is contaiminated–> stage 2

97
Q

boys with testicular GCTs should undergo?

A

radial orchiectomy…preferably inguinal (but can be scrotal)

98
Q

which LNs need to be assessed in testicular tumours for staging? how?

A

retroperitoneal; by CT…<1 cm= negative…2 cm+ = metastatic disease…in btween, f/u/explore options

99
Q

ovarian GCT: high risk of what?

A

intraop spill

100
Q

what’s required in surgical staging of ovarian tumours?

A
  • cytological assessment of peritoneal fluid
  • inspirection adn bx of any abnormal appearing peritoneal surface LNs, omentum, contraleteral ovary
  • removal of the primary tumour without violation fo the tumour capsule
101
Q

stage 1 GCT tx?

A

surgery only if copmlete resection adn tumour markers noramlized…may recur after surgery but salvage rates high

102
Q

tx GCT if stage 2 or higher?

A

chemotherpy + surgery

…rads are NOT indicated in upfront tx of malig GCT

103
Q

which GCTs are low risk?

A

stage 1 gonadal or immature teratoma…surg only

104
Q

which GCTs are intermed risk?

A

stage 2-4 gonadal or stage stage 1-2 extragonadal…tx with surgery + chemo

105
Q

which GCTs are high risk? who has better prog iwthin this group? wrose?

A

advnced extragonadal tumours= stage 3-4 extragonadal…older age= post-pubertal = most predictive of poor outcome…better= young pts with sacrococcygeal tumours…worse= older pts with mediastinal tumours

106
Q

chemo for GCTs?

A

peds= PEb= cisplat+etop+bleo…adolescents get adult tx= weekly belo (BEP)

107
Q

GCTs: who gets 4 cycles of post-op chemo?

A

stage 1 extragonadal and stage 2

108
Q

which GCT patinets get 4 cycles chemo THEN surgery?

A

stage 3-4

109
Q

sacrococcygeal gct: most common path? tx how? outcomes?

A

teratoma, immature teratoma, YST…stage 1: surgery only…higher stage= surg+ chemo…outcomes excellent

110
Q

late effects for GCT?

A

chemo–> hearing loss, neuropathy, therapy-related AML, cardiotox, renal tox, pulm toxi
tumor/surgery: bladder and bowel dysfucntion

111
Q

ovarian sex-cord tumours: egs?

A

juvenile granulosa cell tumour, sertoli-leydig cell tumor

112
Q

approx 50% of pts with a sertoli leydig cell tumour and gynandroblastoma have a germline mutation in what?

A

dicer1

113
Q

tumour associated with peutz-jegher syndrome?

A

sec cord tumour with annualar tubules

114
Q

lab tests for ovarian sex cord tumours?

A

inhibin, estradiol, testerstoner, ALP, imaging

115
Q

risk factors for melanoma? 4

A
  • giant congential melanocytic nevi
  • immunosuppression
  • dysplastic nevi
  • exposure to UV, red hair, blue eyes
116
Q

major mutations in conventional melanoma?

A

BRAFV600E, PTEN, TRET

117
Q

clinical presenttion of melanoma?

A 
ABCDE
asymmetry
border
color change
diameter
evolution over time
118
Q

when do you need LN eval in melanoma?

A

lesion at least 1 mm
<1 mm and high mitotic rate
<1 mm and ulcerated

119
Q

tx options in melanoma?

A

surgery= tx of choice
-checkpoint inhibitors
BRAF/MEK inhibitors

120
Q

risk factors for thyroid ca?

A
  • ionizing radiation
  • MEN2= RET mutations
  • DICER1 syndrome
121
Q

types iof thyroid ca in children adn teens from most to least common?

A

differentiated thyroid carcinoma>medullary>anaplastic

122
Q

medullary ca tends to occur in ___ pts

A

younger (vs. differnetiated in adolescents)

123
Q

eval for thyroid ca?

A 
US of neck
fine needle aspiration bx
CT or MRI of primary
CT chest
labs: thyroglobulin (differentaied), calcitonin (medullary)
124
Q

tx for medullary ca?

A
  • genetic counseling
  • ppx thryorodiectmy if MEN 2 syndrome
  • RET inhibitors
125
Q

nasopharyngeal carcinoma: more common in what populatioN?

A
  • black children adn adoelscents

- endemic in SE Asia, north africa, adn mediterranean

126
Q

2 risk factors for nasophayngeal ca?

A
  • EBV infeciton
  • salted fish
  • HLA A2 adn HLA BSin2
127
Q

eval for nasopharyngeal ca?

A
  • nasopharyngeal scope
  • MRI head and neck
  • CT chest
  • PET
  • EBV serology and EBV DNA testing
  • bx
128
Q

2 ddx for nasophayrngeal ca?

A

RMS

NUT-midline carcinoma

129
Q

nasopharyngeal ca: tx?

A

3 cycles x cisplatin + 5FU then radiation

130
Q

late effects of nasopharyngeal ca?

A 
hearing loss
dry mouth
dental problems
trismus
hypot4
panhypopit
131
Q

pleuropulmonary blastoma associated with what gene mut?

A

dicer1

132
Q

pleuropulmonary blastoma : who does worst?

A

solid tumour (not cystic), older

133
Q

pleuropulmonary blastoma : tx?

A

type 1= cystic…surgery only…2 and 3: radical surgery adn sarcoma chemo

134
Q

adrenocortical ca: almost always associated iwth what? other syndromes? tx?

A

TP53 mutation…BWS, hemihypertrophy, NF1, MEN1….surgery!!!!! if not completely resected, mitotane and cisplatin-based chemo

Haem/Onc (30 decks)

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