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Heme Onc Royal College > Neuroblastoma > Flashcards

Neuroblastoma Flashcards

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1
Q

what is the origin of neuroblastoma?

A

embryonic tumour of the sympathetic nervous system, arises from neural crest

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2
Q

two predominant cell types in neuroblastoma

A

neuroblasts

schwann cells

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3
Q

what other conditions does neuroblastoma frequently co-exist with?

A

other conditions related to neural crest development/migration (ie, cardiac and urogenital anomalies)

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4
Q

three mutations associated with hereditary neuroblastoma

A

PHOX2B
ALK
CDKN1C

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5
Q

five syndromes associated with neuroblastoma

A 
beckwith-wiedemann (WT2)
neurofibromatosis type 1 (NF1)
turners
noonans (PTPN11)
costello syndrome
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6
Q

incidence of familial neuroblastoma

A

1-2%

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7
Q

what are PHOX2B germline mutations associated with?

A
  • ganglioneuroblastoma
  • Hirschprungs
  • congenital central hypoventilation syndrome
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8
Q

what is hyperdiploid NBL associated with

A

favourable outcome
whole chromosome gains
favourable biology

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9
Q

what is diploid NBL associated with

A

defined as a DNA index = 1 - associated with segmental chromosomal aberrations and myc-n amplification

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10
Q

what are common segmental chromosomal aberrations

A

LOH 1p36
LOH 11q
17q gain
LOH 14q

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11
Q

how common is myc-n amplification

A

occurs in 20-30% of neuroblastoma

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12
Q

definition of myc-n amplification

A

> 10 copy numbers per diploid cell

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13
Q

how common are ALK mutations in neuroblastoma

A

occurs in 7-10% of sporadic neuroblastomas

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14
Q

what is chromothripsis and how commonly does it occur?

A

local shredding of chromosomes with subsequent random reassembly of the fragments, occurs in 18% of high-stage nbl

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15
Q

what is the most common cytogenetic abnormality in neuroblastoma

A

17q gain (occurs in > 60%), associated with unfavourable prognosis, metastatic disease

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16
Q

pathologic feature which is pathognomonic for neuroblastoma

A

Homer-Wright pseudorosette

17
Q

what are the three main histologic patterns in neuroblastoma?

A
  • neuroblastoma
  • ganglioneuroblastoma
  • ganglioneuroma
18
Q

what is the pathologic classification used for nbl?

A

Previously used Shimada, now use INPC (international neuroblastoma pathology committee)

19
Q

what components are part of the INPC pathologic classification?

A
  • amount of stroma
  • MKI index
  • degree of differentiation
    (compared to age related norms)
20
Q

name 5 immunohistochemical stains used in nbl

A

Neuron-specific enolase (NSE), GD2, synaptophysin, chromogranin A, neurofilament protein, tyrosine hydroxylase, CD57, CD56

21
Q

what is the most common presentation of nbl?

A

abdominal mass (65%)

22
Q

what is horner syndrome

A

miosis (pupil constriction), ptosis, anhidrosis

23
Q

name three paraneoplastic syndromes associated with neuroblastoma

A
  • VIP secretion
  • opsoclonus-myoclonus ataxia syndrome (OMS)
  • ROHHAD (rapid-onset obesity with hypothal dysfunction, hypovent, autonomic dysregulation)
24
Q

work up for neuroblastoma

A
  • imaging (staging)
  • MIBG
  • urine catecholamines
  • tissue for pathology
  • bilateral bma / bx
25
Q

how can you make a diagnosis of neuroblastoma without obtaining a biopsy of the primary tumour?

A
  • bone marrow bx demonstrating neuroblastoma cells AND increased urine catecholamines
26
Q

name of most commonly used staging system for neuroblastoma?

A

INRG

27
Q

define stage L1

A

localized tumour with no image-defined risk factors

28
Q

define stage L2

A

locoregional tumour with one or more image-defined risk factor

29
Q

define stage M

A

distant metastatic disease (excluding MS)

30
Q

define stage MS

A

metastatic disease in children < 18 months (mets confined to liver, bone marrow, skin)

31
Q

list four image-defined risk factors

A
  • compression of major vessels
  • involvement of skull base
  • compressing trachea
  • tumour with symptoms of spinal cord compression
  • pleural effusion, ascites
32
Q

what FIVE factors are used in the COG risk stratification classification

A
  • age at diagnosis
  • stage
  • tumour histology
  • ploidy (DI = 1 or DI > 1)
  • Myc-n amplification status
33
Q

name four active chemotherapy agents

A

Carboplatin,
etoposide,
cyclophosphamide,
doxorubicin

34
Q

late effects of retinoic acid

A

decreased bone density

35
Q

how many patients with NBL have metastatic disease at diagnosis?

A

70%

36
Q

where can patients with 4S have metastases to?

A

skin
liver
bone
(if bone marrow, must be < 10% involved)

37
Q

the two staging systems and their general characteristics

A

INSS - surgical

INRG - image-defined risk factors

Heme Onc Royal College (30 decks)

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