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Paediatric Flashcards

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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
What are microscopic features of unfavourable histology wilms tumour
Anaplastic features: enlarged nuclei, hyperchromatism of nuclei, abnormal mitotic figures (must have all 3) Sarcomatous features
26
What are the 5 pathological types of paediatric renal tumours
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
27
What genetic abnormality has prognostic significance in Wilma tumour
1q gain 1p and/or 16q loss (worse if both)
28
What is a syndrome associated with medulloblastoma, what pathway is affects
Gorlin syndrome. Mutation in receptor for SHH pathway
29
What are the different types of rosettes found in paediatric malignancies and the associated malignancies
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
What is Turcot syndrome
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
Translocation of what gene defines Ewing sarcoma
EWSR1 Usually either t(11:22) or t(21:22)
32
What IHC is diffusely staining in most Ewing sarcoma
CD99 (indicates translocation of EWS1
33
Which neuroendocrine IHC marker is most commonly positive in paediatric “blastoma” small round blue cell tumours
Synaptophysin (See blue book page 20)
34
What does AT/RT stand for
Atypical teratoma/rhabdoid tumour
35
In basic terms what are the microscopic components of an AT/RT tumour
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
What is the WHO grade of AT/RT
Grade 4
37
What molecular/IHC abnormalities are required for diagnosis of AT/RT
SMARCB1 (INI1) Or more rarely: SMARCA4 (BRG1)
38
What is the pattern of B-catenin staining in wingless medulloblastoma
Nuclear staining (as well as normal cytoplasmic/membranous staining) Due to the issue being APC not breaking down B-catenin
39
What is the microscopic appearance of pineoblastoma
Resembles medulloblastoma Can have homer wright rosettes High N:C ratio, hyperchromatic Frequent mitosis WHO grade 4
40
What is the IHC profile of rhabdomyosarcoma
The same for embryonal and alveolar MAD Myogenin, MyoD1 Actin (muscle specific actin) Desmin Vimentin (non specific)
41
What are the two special variants of embryonal rhabdomyosarcoma, and what is their prognosis in comparison to standard embryonal rhabdomyosarcoma
Botyroid (abundant myxoid stroma): best prognosis Spindle variant (spindle cells present): also better than standard
42
What are the favourable sub sites of rhabdomyosarcoma
Orbit Non parameningeal H+N GU tract (excluding bladder/prostate) Biliary tract
43
Which sub sites of rhabdomyosarcoma are more likely to have LN involvement
Extremities, paratesticular Orbit, H+N, trunk, female genital rarely have LN involvement
44
What are rates of distant Mets at presentation of rhabdomyosarcoma. What are the most common sites
20% Bone and lung Bone marrow
45
What are the histological variants of rhabdomyosarcoma
Embryonal -botyroid -spindle Alveolar Undifferentiated
46
What are the components of pre op IRSG staging for rhabdomyosarcoma
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
What are the components of the rhabdomyosarcoma IRSG Risk Categories
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
What are the pattern as of spread of rhabdomyosarcoma
Local invasion (fascial or muscle planes) Lymphatic (extremity, paratesticular, GU) Haematogenous (lung, bone, marrow) Leptomeningeal
49
What are the three main ways that rhabdomyosarcoma can be divided up prognositcally
Disease site Histological subtype IRSG risk group
50
What percentage of wilms tumours are sporadic vs familial vs genetic syndromes
90% sporadic 1% familial 9% genetic syndrome
51
What is one syndrome associated with Wilma’s tumour. What is the underlying genetic abnormality
WAGR syndrome Wilms Aniridia (no irises) GU tract anomalies Retardation Due to loss of part of chromosome 11 containing several genes including WT1
52
What is the role of WT1
Normal kidney development
53
What is the microscopic appearance of neuroblastoma
Small round blue cell tumour Homer wright pseudorosettes
54
Where does neuroblastoma most commonly arise
Adrenals Paraspinal ganglia
55
What is the macroscopic appearance of wilms tumour
Destruction of renal parenchyma, but well demarcated Pseudocapsule of compressed atrophic renal tissue Lacks calcification
56
What genes are commonly mutated to cause loss of function in wilms tumour
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
Are the standard neuroendocrine IHC markers positive in paediatric non-CNS neuroendocrine tumours
Generally not. Positive in neuroblastoma (PNS) +/- in wilms Negative in Ewings
58
What are the 3 features that must be present for a diagnosis of anaplastic wilms tumour
Abnormal mitoses Nuclear Hyperchromasia Nuclear enlargement (>3x)
59
What defines favourable vs unfavourable histology in wilms tumour
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
What cytogenetics in Wilms are associated with increased risk of relapse and death
1p and/or 16q loss (worse with both) 1q gain
61
Why might patients with Wilms tumour present with anaemia and hypertension
Anaemia: reduced EPO production Hypertension: increased renin production
62
What are the three tumours on the spectrum of neuroblastic tumours
Ganglioneuroma: well differentiated ganglion cells; benign Ganglio -neuroblastoma Neuroblastoma: immature cells
63
What is the result of chromosome 1p deletion (loss of heterogeneity)
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
What are the factors used to classify neuroblastoma as favourable histology or unfavourable histology in the Shimada histpathological classification
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
What is the natural history of neuroblastoma
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
Why would neuroblastoma present with horners syndrome
Due to the malignancy arising in the cervical ganglion
67
What oncological emergencies can occur in neuroblastoma
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
What are the criteria for stage 4S in neuroblastoma, what is its relevance
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
What are the prognostic factors for neuroblastoma -SANDS SAD-MiND
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
What are the four most common posterior paediatric tumours in paediatrics
BEAM Brain stem glioma Ependymoma Astrocytoma Medulloblastoma

Pathology (16 decks)

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