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Paediatric Flashcards

1
Q

What is the typical microscopic appearance of classical medulloblastoma

A

Small round blue cells. Scanty cytoplasm
Homer wright rosettes (rings of Neuroblasts surrounding eosinophilic neutrophil)

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2
Q

What are the histological subtypes of medulloblastoma, and what are their prognosis

A

Desmoplastic/nodular: good
Extensive nodularity : Good (significant overlap with desmoplastic/nodular: both SSH associated)
Classical: intermediate
Anaplastic/large cell (marked nuclear pleomorphism, numerous mitosis and apoptosis): poor

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3
Q

What are the molecular subtypes of medulloblastoma

A

Wingless (WnT)
Sonic hedgehog (SHH)
Group 4
Group 3

Groups 3 and 4 have worse prognosis

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4
Q

What does PNET stand for

A

Primitive neuroectodermal tumour

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5
Q

What are the 4 categories of brain stem glioma

A

Diffusely infiltrating (typically pontine; diffusely infiltrating pontine glioma)
Focal (well circumscribed, <2cm diameter, wihthout infiltration or oedema
Dorsally exophytic
Cervicomedullary

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6
Q

What is the difference in survival outcome between low grade and high grade brain stem gliomas

A

There is no difference. Possibly high tendency to transformation, or heterogeneity within tumour

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7
Q

Which subset of brain stem glioma tend to be indolent and can be observed

A

Focal tectal tumours

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8
Q

Where does craniopharyngioma arise, and what is its malignant potential

A

Arises in the remnant of Rathkes pouch/ hypophyseal duct. Usually supresellar
Benign

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9
Q

What are the two main subtypes of craniopharyngioma

A

Adamantinomatous (most common)
Papillary

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10
Q

What is the typical microscopic appearance of adamantinomatous craniopharyngioma

A

Adherence to surrounding structures
Wet keratin nodules
Rosenthal fibres
Pallisading basal layers of cells with intense gliosis

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11
Q

What are the common genetic abnormalities in the two subtypes of craniopharyngioma

A

Adamantinomatous: WNT pathway abnormalities. B-catenin gene mutation
Papillary: BRAF V600E mutation.

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12
Q

Which gene fusion is significantly prognostic in rhabdomyosarcoma

A

PAX/FOX01.
FOX01 on chromosome 13
Most common in alveolar rhabdomyosarcoma
Several different PAX genes can be involved (on different chromosomes)
Associated with unfavourable prognosis

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13
Q

What is the microscopic appearance of alveolar rhabdomyosarcoma

A

Small round blue cells
Alveolar growth pattern with appearance similar to lung alveolar

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14
Q

What is the appearance of embryonal rhabdomyosarcoma

A

Small cells with round nuclei on a background myeloid stroma
Organic architecture eg nests

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15
Q

What age group is favourable in rhabdomyosarcoma

A

2-10

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16
Q

What two chromosomal translocations are common in Ewing sarcoma

A

t(11:22) (90%) t(21:22)
But many many others

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17
Q

Histologically what is thought to be the relationship between histological origin of ewings sarcoma and neuroblastoma

A

Ewings: thought to arise from parasympathetic postganglionic cells
Neuroblastoma: thought to arise from sympathetic cells

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18
Q

What is the microscopic appearance of Ewing sarcoma

A

Small round blue cells
Extensive necrosis

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19
Q

What are the histological subtypes of Ewing sarcoma

A

Typical: classical
Atypical: lobular, alveolar, organoid

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20
Q

What does the pneumonic EG-MODE stand for

A

Bone tumours
-Epiphysis: Giant cell tumour
-Metaphysis: Oesteosarcoma
-Diaphysis: Ewing

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21
Q

What does the mnemonic LEMONS stand for

A

Small round blue cell tumours
Lymphoma
Ewings
Medulloblastoma
Other (rhabdomyosarcoma, pineoblastoma, ependymoblastoma, etc)
Neuroblastoma
Small cell carcinoma

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22
Q

What are the prognostic factors for Ewing sarcoma

A

MASSSive LDH Response

Male gender
Age >17
Site (pelvic/axial)
Size >8cm
Stage (metastasis)
LDH
Response to chemo (>90% favourable)

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23
Q

What are common genetic abnormalities is neuroblastoma

A

Key point: MANY genetic anomalies common

N-MYC over expression (due to 1p loss)
11q deletion
17q gain
TERT rearrangements
ATRX deletion
ALK mutation

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24
Q

What are the microscopic features of favourable wilms tumour

A

Triphasic. Ie, three different tissue elements
-epithelial (tubules/glomeruli)
-stromal (immature spindled cells)
-blastemal (small round blue cell component)

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25
Q

What are microscopic features of unfavourable histology wilms tumour

A

Anaplastic features: enlarged nuclei, hyperchromatism of nuclei, abnormal mitotic figures (must have all 3)
Sarcomatous features

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26
Q

What are the 5 pathological types of paediatric renal tumours

A

Favourable histology wilms tumour
Unfavourable histology wilms tumour
Rhabdoid tumour of kidney (RTK) (associated with ATRT): treated as wilms
Clear cell sarcoma of kidney (CCSK): treated as wilms
Renal cell carcinoma

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27
Q

What genetic abnormality has prognostic significance in Wilma tumour

A

1q gain
1p and/or 16q loss (worse if both)

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28
Q

What is a syndrome associated with medulloblastoma, what pathway is affects

A

Gorlin syndrome. Mutation in receptor for SHH pathway

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29
Q

What are the different types of rosettes found in paediatric malignancies and the associated malignancies

A

Homer wright rosettes (cells surround central neuropil; collection of neural projections): medulloblastoma, pineoblastoma, neuroblastoma
Perivascular pseudorosettes(areas without nuclei around central blood vessel): ependymoma, glioblastoma

30
Q

What is Turcot syndrome

A

Mutation of APC gene, which means B-catenin is not regulated (as part of Wnt pathway and pro proliferative.
Wingless variant of medulloblastoma, polyposis, colorectal cancer, gliomas.

31
Q

Translocation of what gene defines Ewing sarcoma

A

EWSR1
Usually either t(11:22) or t(21:22)

32
Q

What IHC is diffusely staining in most Ewing sarcoma

A

CD99 (indicates translocation of EWS1

33
Q

Which neuroendocrine IHC marker is most commonly positive in paediatric “blastoma” small round blue cell tumours

A

Synaptophysin
(See blue book page 20)

34
Q

What does AT/RT stand for

A

Atypical teratoma/rhabdoid tumour

35
Q

In basic terms what are the microscopic components of an AT/RT tumour

A

Rhabdoid cells: eccentric nuclei. Abundant eosinophilic cytoplasm. Abundant mitosis. Geographic necrosis.

Teratoid: other poorly differentiated elements including small cell embryonal, spindle cell, neuroectodermal, epithelial, mesenchymal (ie like teratoma)

36
Q

What is the WHO grade of AT/RT

A

Grade 4

37
Q

What molecular/IHC abnormalities are required for diagnosis of AT/RT

A

SMARCB1 (INI1)

Or more rarely:
SMARCA4 (BRG1)

38
Q

What is the pattern of B-catenin staining in wingless medulloblastoma

A

Nuclear staining (as well as normal cytoplasmic/membranous staining)

Due to the issue being APC not breaking down B-catenin

39
Q

What is the microscopic appearance of pineoblastoma

A

Resembles medulloblastoma
Can have homer wright rosettes
High N:C ratio, hyperchromatic
Frequent mitosis

WHO grade 4

40
Q

What is the IHC profile of rhabdomyosarcoma

A

The same for embryonal and alveolar

MAD
Myogenin, MyoD1
Actin (muscle specific actin)
Desmin
Vimentin (non specific)

41
Q

What are the two special variants of embryonal rhabdomyosarcoma, and what is their prognosis in comparison to standard embryonal rhabdomyosarcoma

A

Botyroid (abundant myxoid stroma): best prognosis
Spindle variant (spindle cells present): also better than standard

42
Q

What are the favourable sub sites of rhabdomyosarcoma

A

Orbit
Non parameningeal H+N
GU tract (excluding bladder/prostate)
Biliary tract

43
Q

Which sub sites of rhabdomyosarcoma are more likely to have LN involvement

A

Extremities, paratesticular

Orbit, H+N, trunk, female genital rarely have LN involvement

44
Q

What are rates of distant Mets at presentation of rhabdomyosarcoma. What are the most common sites

A

20%
Bone and lung
Bone marrow

45
Q

What are the histological variants of rhabdomyosarcoma

A

Embryonal
-botyroid
-spindle
Alveolar
Undifferentiated

46
Q

What are the components of pre op IRSG staging for rhabdomyosarcoma

A

Stage 1-4

Favourable vs unfavourable site
Node status
Tumour size (5cm)
M status

Stage 1: favourable sites as long as there is no metastatic disease
Stage 4: metastatic disease

47
Q

What are the components of the rhabdomyosarcoma IRSG Risk Categories

A

Low, intermediate and high risk

IRSG stage (initial clinical stage)
IRSG clinical group (surgical outcome of primary and nodes)
Histological subtype (alveolar vs embryonal)

48
Q

What are the pattern as of spread of rhabdomyosarcoma

A

Local invasion (fascial or muscle planes)
Lymphatic (extremity, paratesticular, GU)
Haematogenous (lung, bone, marrow)
Leptomeningeal

49
Q

What are the three main ways that rhabdomyosarcoma can be divided up prognositcally

A

Disease site
Histological subtype
IRSG risk group

50
Q

What percentage of wilms tumours are sporadic vs familial vs genetic syndromes

A

90% sporadic
1% familial
9% genetic syndrome

51
Q

What is one syndrome associated with Wilma’s tumour. What is the underlying genetic abnormality

A

WAGR syndrome
Wilms
Aniridia (no irises)
GU tract anomalies
Retardation

Due to loss of part of chromosome 11 containing several genes including WT1

52
Q

What is the role of WT1

A

Normal kidney development

53
Q

What is the microscopic appearance of neuroblastoma

A

Small round blue cell tumour
Homer wright pseudorosettes

54
Q

Where does neuroblastoma most commonly arise

A

Adrenals
Paraspinal ganglia

55
Q

What is the macroscopic appearance of wilms tumour

A

Destruction of renal parenchyma, but well demarcated
Pseudocapsule of compressed atrophic renal tissue
Lacks calcification

56
Q

What genes are commonly mutated to cause loss of function in wilms tumour

A

WTX: 30%. On X chromosome, only need to loose single copy to develop wilms
WT1: chromosome 11. 5-10%. Need to loose both copies

57
Q

Are the standard neuroendocrine IHC markers positive in paediatric non-CNS neuroendocrine tumours

A

Generally not.
Positive in neuroblastoma (PNS)
+/- in wilms
Negative in Ewings

58
Q

What are the 3 features that must be present for a diagnosis of anaplastic wilms tumour

A

Abnormal mitoses
Nuclear Hyperchromasia
Nuclear enlargement (>3x)

59
Q

What defines favourable vs unfavourable histology in wilms tumour

A

The presence of anaplastic.

FH: no anaplastic or sarcomatoid histology present

UH: extreme anaplastic
-focal anaplasia 4yr OS 90-100%
-diffuse anaplastia 4yr OS 4-55%

60
Q

What cytogenetics in Wilms are associated with increased risk of relapse and death

A

1p and/or 16q loss (worse with both)
1q gain

61
Q

Why might patients with Wilms tumour present with anaemia and hypertension

A

Anaemia: reduced EPO production
Hypertension: increased renin production

62
Q

What are the three tumours on the spectrum of neuroblastic tumours

A

Ganglioneuroma: well differentiated ganglion cells; benign
Ganglio -neuroblastoma
Neuroblastoma: immature cells

63
Q

What is the result of chromosome 1p deletion (loss of heterogeneity)

A

Loss of suppressor of N-MYC.
Therefore results in N-MYC over expression, which is pro proliferative
Can occur in: oligodendroglioma, neuroblastoma, wilms. Probably others (haven’t gone searching)

64
Q

What are the factors used to classify neuroblastoma as favourable histology or unfavourable histology in the Shimada histpathological classification

A

SAD-MiND

Stromal pattern: stroma rich with more fibrillary material is favourable
Age: <1 favourable, >5 worse
Differentiation
Mitotic-karyorrhexis index
Nodularity (nodular bad vs diffuse better)

65
Q

What is the natural history of neuroblastoma

A

Can spontaneously regress/ mature into benign ganglioneuroma
More commonly present with symptoms from metastatic disease rather than local symptoms
Age <1 60% have localised disease
Age >1 70% have metastatic disease
Most common sites of Mets: bone marrow, bone( skull/orbit: raccoon eyes, liver, skin (blueberry muffin)

66
Q

Why would neuroblastoma present with horners syndrome

A

Due to the malignancy arising in the cervical ganglion

67
Q

What oncological emergencies can occur in neuroblastoma

A

Cord compression: from growth of paraspinal primary into spinal canal
Pepper syndrome: massive liver Mets causing respiratory compression and breathing difficulty. RT 4.5Gy/3#

68
Q

What are the criteria for stage 4S in neuroblastoma, what is its relevance

A

Age <1
Metastases limited to skin and liver
<10% bone marrow involvement, MIBG negative in bone marrow if performed

80% of cases regress spontaneously, associated with good prognosis

69
Q

What are the prognostic factors for neuroblastoma -SANDS SAD-MiND

A

Stage, site of primary, site of Mets
Age (<1 favourable, >5 unfavourable)
N-MYC amplification (unfavourable)
DNA hypo/hyperdiploid

Stromal pattern
Age (as above)
Differentiated
Mitotic-karryhorrexis index
Nodularity- diffuse vs nodular

70
Q

What are the four most common posterior paediatric tumours in paediatrics

A

BEAM

Brain stem glioma
Ependymoma
Astrocytoma
Medulloblastoma

Pathology (16 decks)

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