solids Flashcards
males get what kind of brain tumours
medulloblastoma and ependymoma
diencephalic syndrome =
FTT + emaciation despite normal caloric intake + hyper alert/happy/kinetic, a/w hypothal/thal
types of brain tumours
Glial
1) astrocyte: astrocytoma/ ependydoma
2) oliodendrocyte
Non-glial
1) craniopharyngioma
2) germ cell
3) embryonal e.g. medulloblastoma, ATRT
4) other e.g. meningioma
most common malignant brain tumour in kids
medulloblastoma, and 20% of all CNS tumours
what is posterior fossa syndrome?
Delayed neurological changes after PF tumour resection, 1-5 days post-op:
irritable, nystagmus, mutism
LGG vs HGG prognosis
LGG (I-II) 90% at 20y
HGG (III-IV) 30% at 3y
optic pathway + glioma =
juvenile astrocytomas
key features of LGG
BRAF pathway problem
Rosenthal fibres on histo
good outcome, better in NF1
most common type of LG astrocytoma
pilocytic - locally aggressive but thassabout it. cerebellum most common
Pilocytic astrocytoma + optic pathway = what condition
NF1
types of high grade astrocytoma (3)
WHO III – anaplastic astrocytoma
WHO IV – glioblastoma multiforme
DIPG
ependymoma - key features
- SLOW growing
- from ependymal lining of ventricular wall or from spinal canal
- 60% survival, worse if younger, localised to PF, or disseminated
PNET includes what cancers?
embryonal tumours = Primitive Neuroectodermal Tumour (PNET) inc. MB, ATRT. all grade IV WHO tumours.
why are many MBs metastatic at presentation
1/3 met at presentation bc they spread along the neuraxis
favourable and not favourable molecular subtyping for medulloblasoma
favourable = WNT = CTNNB1mutation, rarely mets
unfavourable = MYC+++
ATRT key features
S. Nardella:
- round blue cell on histo with loss of INI1 nuclear staining (SMARCB1)
- poor prognosis
sellar mass - what imaging modality?
MRI!
DDx for a sellar mass
- infection e.g. abscess
- cystic lesion
- pituitary: adenoma
- benign mass: craniopharyngioma, meningioma
- AV fistula
craniopharyngioma: key features
- from Rathke’s pouch
- peak 5-14y
- 3rd most common (after MB, glioma)
- MRI: cystic calcified parasellar lesion (from cholesterol crystals)
- bitemporal hemianopia
- endo problems ** (GH!!> GnRH >TSH> ACTH)**
craniopharyngioma vs pituitary adenoma, and vs rathke’s cyst
PA:
- hyperprolactinaemia (cf CPh)
- cystic, but not calcified
Rathke cleft cyst:
- no solid /calcification
- most intrasellar
pituitary adenoma key features
a/w MEN1
ACTH > GH, PRL
most common extracranial solid tumour in children
NB
key features of NB
- from primordial neural crest cells
- any site where the SNS is: esp. adrenals, abdomen
- common met sites: long bones, skull
- rare after 6y
- sweating + HTN from catechols (NB HTN could be from RAS)
NB a/w what syndromes??
BWS + hemihypertrophy
Turner
NF1
ROHHAD
familial NB a/w what mutation??
PHOX2B and ALK genes
horner syndrome and NB
ptosis, miosis, anhidrosis
DONT resolve with resection
what is ROHHAD?
rapid onset
obesity
hypothal dysfunction
hypoventilation
autonomic
dysregulation
Ptosis and periorbital ecchymoses = what?
orbital mets
specific Ix in NB
urine catechols (HVA/VMA)
NB + opsoclonus + myoclonus =
opsoclonus (super chaotic non rhythmic movements)- myoclonus -ataxia:
- immune mediated
- actually a/w favourable tumour, but resection won’t improve OMA Sx
wilm’s tumour peak age
2-3y, rare >5y
wilm’s a/w what syndromes
- BWS
- hemi-hypertrophy
- NF1
- overgrowth syndromes e.g. sotos
- WAGR
- denys-drash
WAGR key features
Wilms tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR)
- Del 11p13
most important predictor of Wilm’s prognosis
histology - anaplastic is bad
which is worse in Wilm’s - anaplastic or bilat?
anaplastic worse- 50% 5y
bilat 70% 5y
overall wilm’s survival
60%
Most common solid renal tumour identified in the neonatal period /benign renal tumour
Mesoblastic nephroma, dx much earlier than WT
intussception a/w what cancer
NHL
key features of germ cell tumour
Girls: abdominal pain, vaginal bleeding
Boys: testicular mass, new onset hydrocele, sacrococcygeal mass/dimple
+ve bHCG/ AFP (in serum and CSF) and Asians
wilm’s vs NB
WT:
- calcification uncommon
- won’t cross midline
- well circumscribed
- claw sign
- invades renal vein, IVC
- mets to lung, liver
NB:
- calcifies, crosses midline, mets to bone
most soft tissue sarcomas are?
rhabdomyosarcoma
rhabdomyosarcoma a/w what syndromes??
Li-Fraumeni
NF1
two types of RMS, and which is better
- embryonal 70%
- alveolar 30%
- older, more invasive, mets everywhere not just lung, metastatic disease is incurable
- HAVE Translocations!! t(1;13) or t(2;13)
RMS occurs where?
head and neck (40%), genitourinary tract (20%), extremities (20%), and sx come from obstruction/displacement
FRACP: RMS and basically most other sarcomas get mets where
pulmonary = SOB, pain
most common primary malignant bone tumour in kids
<10y: OS > Ewing’s
>10y: Ewings greater
OS vs Ewings
OS:
bone Only
Metaphysis (O closer to M)
sclerotic, sunburst on XR, Codman triangle
a/w RB, P53 (Li-Fraumeni)
treatment - NO RT
ES:
bone AND soft tissue primary
Diaphysis (E closer to D)
lytic on XR with onion skins!
t(11;22) in 90%!!
CAN get RT
often a/w constitutional Sx
benign conditions with possible malignant transformation into OS
Paget disease, endochondromatosis, fibrous dysplasia
what is the good kind of osteosarcoma?
parosteal - low grade, well differentiated, surgical intervention only usually
most important prognostic factor of OS
histologic response to chemotherapy - necrosis bad after chemo
most common benign lesion of bone
osteochondroma - usually metaphyseal in long bones
RB - how common unilat vs bilat
unilat = 75%
bilat = 25%
classification of RB
- hereditary: younger, multifocal, bilat
- sporadic: older, unifocal, unilat
RB genetics
loss of function of RB1
two hit mutation
most germline, but some AD inherited
histology in RB
biopsies CONTRAINDICATED
poor prognostic factors of RB
metastatic/extra-ocular disease
trilateral
most common cause of death for patients with heritable retinoblastoma is ?
secondary malignancy and not the initial primary retinoblastoma
screening for children with germline mutation?
regular until 7yo
what is trilateral RB?
pineal tumour + hereditary + bilateral retinoblastoma
risk factors for germ cell tumours
Klinefelters!
T21
any undescended testes
location of germ cell tumours
extra-gonadal - most sacrococcygeal, if mediastinal, think klinefelters
gonadal
types of germ cell tumours we care about
1) gonadoblastoma (occurs with gonadal dysgenesis)
2) teratoma
key features: teratoma
germ cell tumour with multiple cell types
usually in gonads, most common are ovarian, or sacrococcygeal
which cancers commonly metastasise to the liver?
NB, Wilm’s, and lymphoma
HB - a/w what syndromes??
FAP
BWS
hemihypertrophy
GSD1
Li-Fraumeni
Goldenhar
T21
super rare hepatoblastoma paraneoplastic syndrome FRACP style
isosexual precocious puberty in boys from beta-hcg
monitoring biochem marker for hepatoblastoma
AFP
HCC … think - who could it happen to?
when your liver gets fucked up e.g. hep B/C, or diseases like galactossaemia, A1AT etc.
hepatoblastoma vs HCC
HB:
<3y
a/w prematurity and genetics
platins + resections
HCC:
>3y
a/w liver injury
thyroid nodules - bad or not?
75% are benign in kids
classic risk factors for CRC in kids
- Lynch (HNPCC, AD) - also endometrial Ca, much fewer polyps cf FAP
- FAP (APC, AD) > 100 poylps
- polyposis
- Peutz-Jeghers
BWS - three cancers NTBM
- Wilm’s
- HB
- NB
Langerhans histiocytosis age group
1-3y
what is LCH?
langerhans are APCs of the skin > overgrowth of these cells. LCH has differents recognised patterns of presentation.
diff ways LCH can present
- bone 80% - lytic lesions
- skin 40% - eczematous / ulcerated / papules
- lymphadenopathy 20%
- liver/spleen
- CNS
- endo - esp. DI
bad prognostic factor for NB
n-MYC
