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Syndromes involving tumours Flashcards

1
Q

Which neurocutaneous syndrome is not inherited via an autosomal dominant patter?

A

Sturge-Weber and ataxia telangiectasia

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2
Q

What is the incidence of NF1?

A

1 in 3000

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3
Q

What is the incidence of NF2?

A

1 in 40 000

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4
Q

Gene locus for NF2

A

Ch22 (22q12.2)

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5
Q

Gene locus for Von Recklinghausen’s disease?

A

Ch17 (17q11.2)

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6
Q

Which neurocutaenous syndrome is associated with skeletal anomalies?

A

NF1

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7
Q

What is the gene product of the NF2 gene?

A

Schwannomin

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8
Q

What is the gene product of the NF1 gene?

A

neurofibromin

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9
Q

What proportion of NF2 cases are sporadic?

A

>50%

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10
Q

What are the histological differences between schwannoma and neurofibroma?

A

Schwannomas arise from schwann cells, which produce myelin. Neurofibromas consist of neurites (axons or dendrites of immature or developing neurons), Schwann’s cells, and fibroblasts within a collagenous or myxoid matrix. Schwannomas displace axons (centrifugal), neurofibromas are unencapsulated and engulf the nerve of origin (centripetal). Both contain Antoni A and B fibres, neurofibromas tend to have more Antoni B. In NF-1 2% develop into malignant peripheral nerve sheath tumours.

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11
Q

What is the diagnostic criteria for NF-1?

A

(Mnemonic NFBLOCA) - NIH 1988 criteria Two or more of the following: ≥ 6 café au lait spots, each ≥ 5 mm in greatest diameter in prepubertal individuals, or ≥ 15 mm in greatest diameter in postpubertal patients ≥ 2 neurofibromas of any type, or one plexiform neurofibroma (neurofibromas are usually not evident until age 10–15 yrs). May be painful Freckling (hyperpigmentation) in the axillary or intertriginous (inguinal) areas Optic glioma ≥ 2 Lisch nodules: pigmented iris hamartomas that appear as translucent yellow/brown elevations that tend to become more numerous with age Distinctive osseous abnormality, such as sphenoid dysplasia or thinning of long bone cortex with or without pseudarthrosis (e.g. of tibia or radius) A first degree relative with NF1 by above criteria

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12
Q

Cause of hydrocephalus in NF-1?

A

Aqueduct stenosis

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13
Q

What does neurofibromin do?

A

Negative regulator of the Ras oncogene. Loss of neurofibromin function occurs in NF1 and results in elevation of growth-promoting signals.

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14
Q

What are the diagnostic criteria for NF-2?

A

(Mnemonic VFMSGPC) bilateral VS on imaging (MRI or CT) OR a first degree relative (parent, sibling, or offspring) with NF2 AND 1. unilateral VS OR 2. any TWO of the following: meningioma, schwannoma (including spinal root), glioma (includes astrocytoma, ependymoma), posterior subcapsular lens opacity, or cortical wedge cataract OR unilateral VS AND any TWO of the following: meningioma, schwannoma (including spinal root), glioma (includes astrocytoma, ependymoma), posterior subcapsular lens opacity, or cortical wedge cataract OR multiple meningiomas AND ONE of the following 1. unilateral VS OR 2. OR any TWO of the following: meningioma, schwannoma (including spinal root), glioma (includes astrocytoma, ependymoma), posterior subcapsular lens opacity, or cortical wedge cataract

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15
Q

What is the classical triad of tuberous sclerosis complex?

A

(Epiloia) Epilepsy Low inteillgence Adenoma sebaceum Full triad seen in <1/3 of cases

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16
Q

What is the inheritance pattern of Tuberous Sclerosis

A

Most cases are actually sporadic, otherwise autosomal dominant inheritance 2 genes identified TSC1 (Ch9) = Hamartin and TSC2 (Ch16) = Tuberin

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17
Q

What are the intracranial findings in Tuberous Sclerosis aka Bourneville’s disease?

A

Subependymal tubers (hamartomas) - almost always calcified SEGA (WHO grade 1, almost always at the foramen of Munro) - occur in 10% of TSC patients Cortical dysplasias Pachygyria / microgyria

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18
Q

How would you treat a SEGA in a patient with Tuberous sclerosis?

A

Resection if symptomatic Patients ≥ 3 years of age with increasing size of SEGA lesions have had sustained reduction of SEGA volume on everolimus (mTOR pathway inhibitor).

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19
Q

What is the diagnostic criteria for Sturge Weber syndrome?

A

Clinical criteria: 2 out of the following 3; Facial port-wine birth mark increased intra-ocular pressure leptomeningeal angiomatosis

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20
Q

How is sturge weber inherited?

A

Most cases are sporadic, somatic mutation in GNAQ gene on Ch9

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21
Q

What conditions are associated with neurocutaneous melanosis?

A

NF1

Sturge Weber

P-fossa cystic malformation (Dandy walker in 10%)

Intra spinal lipoma

Syringomyelia

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22
Q

Which brain tumour is most commonly associated with familial adenomatous polyposis? (BTP2)

A

Medulloblastoma

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23
Q

What are skin and CNS derived from embryologically?

A

Ectoderm

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24
Q

Which condition is associated with cutaneous schwannomas?

A

NF2 in 70%

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25
Which condition is associated with Lisch nodules?
NF1 (not NF2!)
26
Which other conditions are associated with NF-1?
Mnemonic: SNAP SUM EKG Scwannomas Neurofibromas Aqueductal stenosis Phaeochromocytomas Syrinx UBOs Malignant tumours Exopthalmos Cognitive decline Kyphoscoliosos Gliomas
27
What are the clinical diagnostic criteria for tuberous sclerosis?
Need 2 major criteria or 1 major and 2 minor: Major: \>2 Ash leaf macules (hypomelanotic) seen with a UV Woods lamp! \>2 angiofibromas \>1 ungal fibroma Shagreen patch Multiple retinal hamartomas Cortical dysplasia Subependymal nodules SEGA Cardiac rhabdomyoma Lymphangioleiomyomatosis \>1 angiomyolipomas Minor: Confetti skin lesions Dental enamel pits Intraoral fibromas Renal cysts Non-retinal hamartomas
28
Mnemonic for Tuberous sclerosis features?
Mnemonic = USA ADORA CLASS C: Ungal fibromas Shahgreen patches Adenoma sebaceous / Angiofibromas Ash leaf macules Dental pits Oral fibromas Renal cysts Angiomylolipomas Cardiac rabdomyomas Lymphangioleiomyomatosis Achromic retinal patch Subependymoma SEGA Confetti skin lesions / calcified hamartomas
29
What is adenoma sebaceum?
Hamartomas of the skin
30
Where do calcifications occur intracerebrally in TSC?
Subependymal
31
What is the diagnosis of a contrast enhancing periventricular tumour in TSC?
SEGA enhance intensely
32
How do you resect SEGAs?
Interhemispheric Transcallosal
33
What are the diagnostic features of Sturge-Weber?
2 of: Leptomeningeal angiomatosis Ipsilateral port wine stain Increased ocular pressures (Localised cerebral atrophy and calcifications)
34
What are the classical features of Sturge-weber on skull xray?
Tram-track sign
35
What is the other name for Sturge Weber Syndrome?
Encephalotrigeminal angiomatosis
36
Where is the predilication for cortical calcification in Sturge-weber?
Occipital lobes
37
What features are associated with Sturge-Weber?
Mnemonic: EPIC GRAVE Exopthalmos Port wine stain Iris Coloboma Cortical atrophy / calcification Glaucoma Retinal angiomas Atrophy of lobe Oculomeningeal capillary haemangioma Cerebral Venous malformation Endocrinopathy (growth hormone deficiency)
38
What is the mutation in Tuberous Sclerosis?
TSC1 gene on Ch9q21 (Hamartin) TSC2 gene on Ch16p13.3 (Tuberin)
39
How do you treat refractory seizures in tuberous sclerosis?
Lobectomy or hemispherectomy
40
What is the diagnosis?
Neurocutaneous melanosis
41
What is neurocutaneous melanosis?
A non-inherited phakomatosis that presents before 2 years of age with cutaneous and leptomeningeal benign or malignant melanomas. Due to a neuroectodermal defect originating from neural crest cells.
42
What % of patients with neurocutaneous melanosis develop hydrocephalus?
66%
43
What are the signal characteristics of melanin on MRI?
Bright T1 and Dark T2
44
What is Turcot syndrome?
Brain tumour polyposis syndrome 1 & 2 mutation of the APC - adenomatous polyposis syndrome gene) Autosomal dominant Type 1 is associated with gliomas \>90% have cafe-au-lait spots Type 2 is associated with medulloblastomas
45
What is Li Fraumeni syndrome?
Autosomal dominant condition with P53 mutation causing medulloblastomas, embryonal tumorus and astrocytic tumours
46
What are these?
Lisch nodules (orange or brown iris hamartomas) associated with NF-1
47
What is the earliest indicator of tuberous sclerosis?
Ash leaf macules - these are ovoid hypopigmented patches that are more prominent with UV light (Wood's lamp). 80% of patients with tuberous sclerosis have these present by one year of age. May also have a white tuft of hair.
48
What is Waardenburg syndrome?
White tuft of hair Iris heterochromia Cutaneous depigmentation Congenital sensorineural deafness Characteristic facial features incl broad nasal root, lateral displacement of the mesial canthus
49
What is the triad of McCune-Albright?
Cafe au lait spots Polyostotic fibrous dysplasia Precocious puberty
50
What is Legius syndrome?
NF-1 like syndrome. Characterised by cafe-au-lait spots, axillary freckling, lipomas, macrocephaly and learning disability. Autosomal dominant. Unlike NF-1 it does not have neurofibromas, bone abnormalities, lisch nodules, OPG and malignant PNST.
51
What is Cowden syndrome?
A mutation in PTEN resulting in benign hamartomas and malignant tumours (Breast ca, Endometrial ca, Thyroid ca etc). Characterised by palmar keratosis and facial trichilemmomas. Associated with Lhermite-Duclos (cerebellar gangliocytoma)
52
What do plexiform neurofibromas resemble?
Giant cafe au lait spots. They enlarge and become elevated with a bag of worms consistency. Seen with NF-1
53
What is Gorlin syndrome?
Basal cell carcinoma syndrome. Multiple BCCs on the plantar surfaces (palms and soles)
54
What is the other term for a port wine stain?
Naevus flammeus (associated with sturge-weber, Klippel-Trenauny syndrome and VHL)
55
What is Klippel-Trenauny syndrome?
Port wine stain Overgrowth of soft tissue Venous abnormalities
56
What are the MEN syndromes?
MEN1 = MENIN gene mutation = Pituitary/Parathyroid/pancreatic islet cell tumours. Characterised by facial angiofibromas, collagenomas, lipomas, guttate hypopigmented macules. MEN2A = RET gene mutation = (PAT) Parathyroid/Thyroid/Adrenal = lichen amyloidosis of the upper back MEN2B = RET gene mutation = (TAG) Thyroid/Adrenal/GI ganglioneuromatosis = Marfanoid habitus with multiple mucosal neuromas
57
What condition are collagenomas associated with?
MEN1 (MENIN gene mutation)
58
What are trichilemmomas?
Proliferation of the root sheath of hair follicles appering as papules on the face. Associated with Cowden's syndrome.
59
What is diagnostic of an ATRT?
SMARCB1 gene loss / INI1 protein loss
60
What mutation is found with pilocytic astrocytomas?
BRAF-KIAA 1549 gene fusion
61
What is the diagnosis?
ATRT
62
What are Ch6 monosomy and MYC gene amplifications associated with?
Ch6 monosomy = Low-risk medulloblastoma MYC gene amplifications = High-risk medulloblastoma
63
What is associated with raised levels of beta-2-microglobulin?
Multiple myeloma and CLL
64
What is associated with raised levels of CA19.9?
Pancreatic cancers
65
What is associated with raised levels of CA125?
Ovarian cancer
66
What is associated with raised levels of calcitonin?
Medullary thyroid cancer
67
What is associated with raised levels of CEA?
Colorectal cancers
68
What are Verocay bodies?
A characteristic feature of Scwannomas (Antoni A pattern) they are parallel rows of nuclear atypia separated by regions of acellularity.
69
What type of rosettes are associated with ependymomas?
True ependymoma rosettes and perivascular pseudorosettes
70
What type of rosettes are associated with medulloblastomas, retinoblastoma and pineoblastomas?
Flexner wintersteiner rosettes
71
What are Negri bodies?
Eosinophilic cytoplasmic inclusions associated with Rabies
72
What immunostain is positive with chordomas?
Brachyury
73
What tumours are TTF-1 positive?
TTF-1 = thyroid transcription factor. Positive with thyroid and lung metastases
74
What immunomarker is positive with central neurocytomas?
Synaptophysin
75
What condition is associated with breast ca, sarcoma and astrocytomas?
Li Fraumeni syndrome (P53 mutation)
76
What staining is associated with SEGAs?
S100. Note: SEGAs arise from subependymal nodules that grow and are \> 1cm. Calcification is common and show marked contrast enhancement.
77
Where do central neurocytomas arise from?
The septum pellucidum. Maximal safe resection is standard of care.
78
What is the incidence of an incidental pineal cyst on MRI?
1-4%. Imaging surveillance is recommended.
79
Which conditions are associated with AVMs?
HHT, Wyburn-Mason syndrome, Sturge-Weber syndrome
80
What are Rosenthal fibres?
Intracytoplasmic aggregates of GFAP (seen in Grade I ganglioglioma or Grade II pleomorphic xanthoastrocytoma, and Alexander’s disease (type of leukodystophy))
82
What are Hirano bodies?
Rode-like eosinophilic aggregates of ACTIN seen in Alzheimer's disease and CJD
83
What are Herring bodies?
Neurosecretory bodies found in the posterior pituitary
84
What are pseudopalisades associated with?
GBM (note: real palisades are associated with Verocay bodies in Antoni A regions of schwannomas)
85
What are the phases of the cell cycle?
Prophase \> Metaphase \> Anaphase \>Telophase \> Cytokinesis \> G1
86
What are the histological features of a PXA?
Cellular and nuclear pleomorphism Spindled cells Lipidized tumour cells Multinucleated cells Very low mitotic rate Eosinophilic granular bodies
87
What are glomeruloid tufts?
Microvascular proliferations seen in GBM composed of multiple layers of endothelial cells surrounding vessels
89
How can you differentiate Flexner-Wintersteiner rosettes from Homer-Wright rosettes?
The central lumen contains neuropil with Homer-Wright rosettes
90
What are the features of tanycytic ependymomas of the spinal cord?
Highly fibrillated bipolar spindle cells.
91
What are the histological features of myxopapillary ependymomas?
Myxoid matrix with microcystic structures. Tumour cells are radially arranged around papillary vascular cores.
93
What are the histological features of cortical tubers?
Dystrophic neurons with balloon cells
94
What condition are ependymomas associated with?
NF2
98
What immunoreactivity is seen with choroid plexus carcinomas?
P53! Think Li Fraumeni
99
What are the diagnostic criteria for NF-2?
Bilateral vestibular schwannomas, Unilateral VS plus a first degree relative or first degree relative with 2 of meningioma, schwannoma, glioma, neurofibroma, juvenile posterior subcapsular lenticular cataract.
100
What further investigations should be undertaken in the work up of a patient with a vestibular schwannoma?
Pure tone audiogram, speech reception thresholds and speech discrimination scores.
101
What further investigations can be undertaken pre / intra-operatively for vestibular schwannomas?
Brainstem auditory evoked responses, elecronystagmography, stapedial reflex (to assess retrocochlear lesions) and cold caloric testing.
102
What is the cut off value for serviceable hearing?
PTA with values 50%
103
What are the management goals in NF-2 patients with VS?
Maintain serviceable hearing as long as possible and to prevent brainstem compression.
104
When would you recommend conservative management in patients with VS?
Small tumours with serviceable hearing. This would allow for serial observation and treatment when the lesion enlarges / results in mass effect.
105
What are the radiotherapy options for VS?
Steretactic radiotherapy (external beam) or stereotactic radiosurgery. These are recommended for poor operative candidates, bilateral VS, post-surgery tumour progression and small lesions
106
When is surgery recommended for VS?
Lesions \>3cm, brainstem compression, intractable disequilibrium, severe trigeminal symptoms and hydrocephalus. Better if the hearing is already lost.
107
What are the most common approaches for surgical resection of VS?
Retrosigmiod, translabyrinthine, middle fossa and combined approaches.
108
What are the outcomes of SRS for VS?
80% tumour control rate at 15 years with 75% hearing preservation at 1 year and 50% at 5 years.
109
What is the differential for an intraventricular lesion? (MSCENTRAL)
Choroid plexus papilloma, colloid cyst, central neurocytoma and caveroma; Ependymoma, epidermoid / dermoid, Neurocytoma, Teratoma, Tuber, Abscess, AVM, Astrocytoma, aneurysm, lipomas, lymphoma, meningioma, metastasis, SEGA and subependymoma.
110
What are the investigations required for a patient with an intraventricular lesion?
CT brain, MRI+/- contrast of brain and spine (for drop mets), MRA/MRV if planning operative resection, CSF tumour markers (CEA, AFP and bHCG).
111
What are the features of an Ash-leaf macule?
Patchy macular discoloration with loss of pigmentation
112
What genetic condition is associated with SEGAs?
Tuberous sclerosis
113
What other lesions are associated with tuberous sclerosis?
Epilepsy, cognitive delay, adenoma sebacium, facial angiofibromas, ungal fibromas, cortical tubers, SEGA, retinal astrocytomas, cardiac rhabdomyomas, retinal hamartomas, shagreen patch, ashleaf macule, forehead plaques, pulmonary lymphangiomyomatosis, renal angiomyolipomas and renal cyst.
114
What are the surgical approaches to a lesion within the third ventricle?
Transcallosal, Open transcortial transventricular and Endoscopic transventricular.
115
What are the pros and cons of the Transcallosal approach?
Short trajectory to the 3rd ventricle, no cortical transgression, good view of both foramina of Monroe. Complicated by leg weakness, akinetic mutism and memory deficits.
116
What are the pros and cons of the transcortical transventricular approach?
Better for anterosuperior 3rd ventricular with passage through the right middle frontal gyrus. Cons incl higher seizure risk (10%) and required larger ventricles.
117
What are the pros and cons of the transventricular Endoscopic approach?
Better for smaller lesions, unable to control haemorrhage and has a higher recurrence / residual rate. Operator dependent.
118
Why should you perform MRI angio / venogram prior to resection of an intra-ventricular tumour?
To better define the arterial supply / potential for embolization and to define deep / cortical venous anatomy.
119
What is the drainage of the thalamostriate vein?
Into the internal cerebral vein
120
During a transcallosal approach to an intraventricular tumour the csf from the lateral ventricle is released and the septum obscures the view. Why is this?
CSF in the contralateral ventricle has caused the septum pellucidum to bulge into the ventricle. Release CSF from the opposite side by performing a septum pellucidotomy.
121
What does the fornix connect?
From hippocampus to hypothalamus
122
What are the functions of the fornix?
Short term memory, emotion, part of the limbic system (circuit of papez) and hippocampal formation.
123
What is this?
MEN2A = RET gene mutation = (PAT) Parathyroid/Thyroid/Adrenal = lichen amyloidosis of the upper back

FRCS Part 2 (17 decks)

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