Repetera-utvalda Flashcards
(168 cards)
1
Q
EANO rec:
H3 K27M-mutant diffuse midline glioma, WHO grade 4
A
- Radiotherapy only.
This tumour type includes the majority of brainstem, thalamic and spinal diffuse gliomas in children and adults. Surgical options are limited and benefits from treatment options beyond radiotherapy have not been established because these tumours are rare and have not been studied in dedicated trials. In these tumours, the MGMT promoter is usually unmethylated. The prognosis of patients with this tumour type is poor.
2
Q
EANO rec:
H3.3 G34-mutant diffuse hemispheric glioma, WHO grade 4
A
- Surgery if feasible and Chemoradiotherapy.
These tumours mostly occur in adolescents and young adults and the MGMT promoter is more often methylated than unmethylated. These tumours were previously classified as IDH-wild-type glioblastomas and, thus, a reasonable treatment approach for such patients is chemoradiotherapy
3
Q
Important stages of Karnofsky performance scale to remember
A
80-100 - able to carry on normal activity and to work. No special care needed.
50-70 - Unable to work, able to live at home and care for most personal needs; varying amount of assistance needed.
0-40 - Unable to care for self, requires equivalent of institutional or hospital care; disease may be progressing rapidly.
4
Q
What molecular signs make an astrocytoma grade 4?
A
- IDH mut AND
- loss of ATRX (ATRX mut) or p53 mutation AND
- CDKN2A/B deletion
5
Q
What is MGMT?
A
o6-metylguanihn-DNA-metyltransferase
6
Q
Something is special about some spinal ependymoma and they even got their own name. What?
A
MYCN amplified.
7
Q
What is the definition of an oligodendroglioma in WHO CNS 4?
A
- 1p/19q codeletion
- IDH mutation
- astrocytic appearance
8
Q
So, A Diffuse glioma is deemed IDH wt.
What more is needed for diagnosis Glioblastoma IDH wt CNS WHO grade 4?
A
One or more of the following:
* microvascular proliferation
* Necrosis
* TERTp mutation
* EGFR gene amplificantion
* +7/-10
9
Q
What molecular signs make an IDH mutant astrocytoma grade 4 if the tumor also have microvascular proliferation and/or necrosis?
A
An ATRX mutation or a p53 mutation.
10
Q
what alkylating cyt is used for methylated MGMT tumors?
A
Temozolomid.
11
Q
What dubbeldeletion is strongly connected to oligodendroglioma?
A
1p19q deletion.
12
Q
What clinical traits are 1p19q codeletion associated with?
A
better prognosis and better response to cyt treatment. (uns)
13
Q
What is IDH?
A
the enzyme isocitratedehydrogenas 1 and 2.
14
Q
What tumor is H3, G34 mutation associated to?
A
(pediatric) diffuse hemispheric glioma, H3G34. (WHO grade 4)
15
Q
What tumor is H3K27 mutations associated to?
A
(pediatric) diffuse midline glioma, H3K27. (WHO grade 4, more aggressive than H3G34)
16
Q
What is K-67?
A
A nuclear antigen that gives information of proliferation. Proliferation index is % positive cell nuclei in the tumor. High=aggressive
17
Q
What does a P53 mutation suggest?
A
An astrocytic tumor. ( in oposition to oligodendroglioma)
18
Q
When is 1p/19q deletion tested?
A
In all IDH mutated glioma grade II and III w kept ATRX expression.
19
Q
When is ATRX immunohistochemistry done?
A
In all astrocytoma and oligodendroglioma, if nuclear ATRX is lost, it is NOT an oligodendroglioma.
20
Q
When is TERT promotor mutaion controlled?
A
In IDH wt glioma with grade II or III histology
21
Q
Loss of ———–expression is a strong indication of a astrocytoma and not a oligodendroglioma.
A
ATRX
22
Q
Mutation of ———is a strong indication of Astrocytoma and not Oligodendroglioma
A
p53
23
Q
What alteration warants a astrocytoma IDH mutant to go from grade 2/3 to grade 4 independent of microvascular proliferations and necrosis?
A
Homozygous CDKN2A/B
24
Q
What is bevacizumab?
A
An angiogenes inhibiting agent.
25
What is "RANO"?
Response Assessment in Neuro-Oncology. the size of the contrast enhancing tumorcomponent is measured in a special way. That is combined w info of cortison treatment and clinical status.
Non-contrast enhancing tumors with high T2 or T2 FLAIR intensity are also measured.
Smallest "countable" lesion acording to RANO is 1 cm2.
26
What are the outcomes in RANO?
* response
* partiell response
* stable disease
* progression
27
What is the drug used for flourescence based visualization of tumor tissue called?
5-aminolevulinic acid.
28
What determibes the timing, dosing and scheduling of radiotherapy?
* disease subtype
* age
* KPS
* recidual tumor volume.
29
When should radiotherapy start after surgery?
3-5 weeks
30
What is the most common dose of radiotherapy for grade 2-3 gliomas?
50-60 Gy, in 1.8-2 Gy daily fractions.
31
What does hypofractioned radiotherapy mean?
Higher dose per fraction, and a lower total dose. ex 15x2.67Gy.
32
How much is added to "the gross tumour volume" to account for microscopic invasion?
1-2 cm.
33
What are requirements for pharmacological treatment of glioma pt?
* hepatic and renal laboratory values within the normal ranges
* exclusion of major lung or heart disease
* exclusion of ongoing infection
34
What is Temozolomide?
An oral DNA alkylating agent that penetrates the BBB.
35
What are the risks with Temozolomide treatment?
After 2-3 weeks:
* myelosuppression - noteably thrombocytopenia as its main dose-limiting toxicity
* hepatic function
36
What is usually the composition of PCV?
* Lomustine (nitrosurea alkylating)
* Procarbazine
* Vincristine
37
Therapy recommendations for IDH-mutant 1p/19q codeleted oligodendroglioma WHO grade 2
1. surgery
2. watch and wait in gross total resection and also possibly for younger (40) w incomplete resection if the tumor has not caused neurological deficits beyond EP.
3. If more is deemed necessary:
1. Radiotherapy
2. PCV.
38
2nd line treatment for all gliomas
Options determined by KPS, neurologic function and prior treatment.
* repeat surgery
* alkylating chemotherapy
* Re-irradiation
* Experimental therapy
39
Is there any "rescue" third line treatment for low grade glioma if neither radiotherapy or alkylating worked or patient was intolerant?
Only for IDH mut, 1p/19q codeletion tumors=oligodendrogliomas.
Bevacizumab, but its unknown what effect it would have.
40
First line treatment for Astrocytoma, IDH mut, WHO 2?
Same as for oligodendroglioma, IDH mutant, 1p19q codeleted.
- GTR, age under 40, no neurologic deficit (except EP)
Wait and see OR radiotherapy (50Gy 1.8fractions) followed by PCV. (or when needed)
Obs progression free survival, but not OS has been shown to be prolonged by early radiotherapy but not by RT at disease progression.
41
Whats the recomendations for 1st line treatment of grade 3 IDH mut astrocytomas?
The standard of care for IDH-mutant astrocytomas, WHO grade 3 includes resection as feasible or biopsy followed by involved field radiotherapy and maintenance temozolomide (CATNON)88. C: II; L: B.
42
What is the standard of care after surgery for adults with newly diagnosed glioblastoma who are in good general and neurological condition and are aged <70 years?
CONCOMITANT radiotherapy and chemotherapy with temozolomide (75 mg/m2 DAILY throughout radiotherapy, including at weekends) plus SIX cycles of maintenance temozolomide (150–200 mg/m2, 5 out of 28 days).
43
Does radiotherapy have a role in the treatment of Glioblastomas?
For decades, radiotherapy (60 Gy in 1.8–2 Gy fractions) has been the standard of care for glioblastoma, approximately doubling median OS duration.
44
What is first line treatment for Oligodendroglioma grade 3?
For grade 3, usually straight to Radiotherapy followed by PCV.
45
1st line treatment for Astrocytoma, IDH mutant, WHO grade 4?
Radiotherapy followed by TEMOZOLOMIDE wo/w CONCOMITANT temozolomide
46
Treatment of Glioblastoma after surgery/biopsy for pt over 70 yo
Patients with tumours lacking MGMT promoter methylation or of unknown MGMT promoter methylation status should be treated with hypofractionated radiotherapy alone. Those with tumours with MGMT promoter methylation status should receive temozolomide alone (5 out of 28 days until disease progression or for 12 month).
47
Glioblastoma - what cyto to use in the newly diagnosed setting?
Combining temozolomide with lomustine might extend OS in patients with MGMT promoter-methylated glioblastoma
48
Glioblastoma - second surgery?
Second surgery is an option for ~20–30% of patients, commonly with symptomatic but circumscribed relapses diagnosed not earlier than 6 months after initial surgery. Second surgery earlier than 6 months after initial surgery increases the risk of unnecessary intervention on the basis of pseudoprogression and is unlikely to provide durable benefit if the initial surgery followed by radiotherapy did not provide tumour control for more than a few months. ( If the reason was not inadequate surgery)
49
EANO _ rec:
Does it matter if a glioblastoma patient has a methylated MGMT promotor?
Temozolomide might only be active in patients with MGMT promoter-methylated tumours whereas its activity in patients with MGMT promoter-unmethylated tumours is probably marginal
50
EANO _ rec:
The findings of MGMT methylation dependency for reslut of treatment has changed rec. for elderly (over 70 yo). How?
Elderly patients not considered candidates for temozolomide chemoradiotherapy should be treated on the basis of MGMT promoter methylation status (NOA-08, Nordic Trial) with radiotherapy (such as 15 × 2.66 Gy) or temozolomide (5 out of 28 days) alone
51
EANO rec:
Steroids in glioblastoma?
Steroids should not be given to treat asymptomatic or minimally symptomatic oedema and should be tapered as soon as possible, considering their unfavourable safety profile upon long-term administration. Furthermore, steroid use has been shown to be a negative prognostic factor for OS in patients with glioblastoma from three separate large cohorts123 and might interfere with the efficacy of radiotherapy, chemotherapy and immunotherapy.
52
How many % of brain tumors are constituted by intracranial germ cell tumors?
about 1%
53
The male:female ratio is interresting in the non-germinatous tumors of the pineal. how does it look?
M:F = 9:1
54
As germinomas account for 60-80% of all germ cell tumors intracranially, a dichotomized expression for germ cell tumors are commonly used. Which?
* germinomas
* non-germinatous germ cells
55
where are germ cell tumors usually located?
They are midline clustered with a predilection of the PINEAL (2x all other sites) and suprasellar regions.
56
Compare prognosis of germinomas and non-germinomatous tumors.
* germnomas are exquisitely radiosensitive and cure ashived with radiation alone in 80-90% of pt.
* Non-germonomatous tumors have survvival rate of 40-70%
57
Where are neurohypophyseal tumors situated?
In the neurohypophys - posterior part of the pituitary gland
58
What are the three most common abnormalities in the pituitary gland?
* Pituitary adenoma
* Rathkes cleft cyst
* Craniopharyngeoma
59
differential diagnostics for the pituitary stalk (mixed adult and children)
* Rathces cleft cyst
* craniopharyngeoma
* germinoma
* eosinophilic granuloma
* metastasis
*(lymphoma)
60
Differential diagnostics of the optic chiasm itself
* gliomas
* MS
61
What are the differential diagnostics in the hypothalamus?
No1 = Gliomas.
In children:
* Hamartomas
* Germinomas
* Eosinophilic granuloma
62
The cavernous sinus lies just lateral to the hypophysis. What is the segment of ICA just cephalade to the cavernous sinus called? And what structures in the sellar/suprasellar region is it close to?
It is the supracavernous segment. It lies just lateral to the pituitary stalk.
63
What structures run in the cavernous sinus?
CN III, CN IV, CN VI and V1 (these 4 then exit through supraorbital fissure) AND V2 (that exit through rotundum and then infraorbital fissure).
64
Which of the CN is located more medially in the sinus and run just caudal to the carotid artery?
Abducens. CN VI.
65
What is the normal pathway for bacteria and fungal infections to spread from the sphenoid sinus intracranially?
Via the cavernous sinus.
66
Difine a pituitary microadenoma
Less than 10mm
67
What is the first radiological diff diagnosis of microadenoma?
Rathkes cleft cysts.
68
What is the most common problem for patients with microadenoma?
Hyperprolactinemia
69
What is the treatment of Prolactinoma?
Bromocriptine
70
What can make something bright on an unenhanced T1 weighted MRI?
* Blood or Proteinacious fluid
* Fat
71
Does normal pituitary gland and normal pituitary stalk enhance with Gd contrast?
Yes they do. They are both extracerebral masses (extraaxial).
72
Why is it important to see MRI both w/o and with Gd in a tumor in the sella area?
Because the Gd images might lead us to think that a mass is situated both in the stalk and in the gland as the gland enhances with Gd both with and without malignancies.
73
What three pathologies might be derived from Rathkes cleft epithelium?
*
* Rathkes cleft cysts
* Craniopahryngeoma
74
How are Craniopharyngeomas usually behaving?
* Benign but locally invasive.
* Cyst with Thick walls (unlike rathkes cysts) and multiple nodules
*
75
How is surgery for Cranipharyngeomas?
Difficult. They grow multiple nodules along the skull base and sinuate aling the fissures.
Often incomplete resections.
76
Typical radiographic presentation of craniopharyngeoma ? (50% of cases)
*Compressed pituitary gland
* Large intra and suprasellar mass with cystic and enhancing components as well as calcifications.
* If found in a child it is VIRTUALLY PATHOGNOMONIC for craniopharyngeoma
77
What hormones are produced in the anterior lobe of the pituitary gland?
* TRH
* GnRH
* GHRH
* CRH
* Prolactine
78
Which of the hormones of the hypothalamus works inhibitory on the anterior lobe?
Dopamine. It inhibits the production of Prolactine in the anterior lobe.
79
What effect does a compression of the stalk have on production of hormones in the anterior piuitary lobe?
Decreased production of all hormones except Prolactine that is increased.
80
In what cistern might a hamartoma hang down?
The suprasellar sistern. ( de ser ut som droppar från 3e ventrikeln på en coronarbild. Som en extra hypofys. På en sagittalbild ser det mer ut som en extra bit hjärna bakom hypofysstjälken, hängande ner från tuber cinereum och ovan/framför mammilarkropparna. Man ser tydligt att det inte är en "extrahypofys" iallafall på exempelbilderna är hamartomet mycket större.
81
What is good and what is bad with a Hamartoma?
They are benign lesions, but located badly.
82
For what patientgroup is gliomas by the optic chiasm common?
NF 1 patients.
83
What is the most common lesion of the clivus?
Chordomas
84
What would be the differential diagnosis if you find a mass behind the pituitary and infront of the mamillary bodies and perhaps also pons?
1. Chordoma
2. metastases
3. chondrosarcoma
85
What should be the normal signal intensity in a sagittal view of a normal clivus?
It should be high intensity due to normal fatty marrow.
Many tumors like small cell lung cancer mets, lymphoma, myeloma and diffuse bone marrow abnormalities may "eat" the fatty appearance and it will be low intensity on normal T1 weighted MRI.
86
How often is increased levels of growth hormones due to pituitary adenoma?
more than 95%
87
What diseases occur from increased growth hormon release?
Adults - Acromegali
Children - Gigantism
88
What disease is caused by corticotropin releasing tumors of the pituitary?
Cushings disease.
89
What to suspect if only one hormone is depressed?
Autoimmune hypophysitis
90
What to ask if diabetes insipidus is seen preoperatively?
* Autoimmune hypophysisis
* Hypothalamic glioma
* Supracellar germ cell tumor
91
Signs of pituitary apoplexy?
* sudden onset H/A
* Visual disturbance
* Opthalmoplegia
* Reduced mental status
Corticosteroid treatment needs to be started immidiately.
Rapid decompression is needed if:
* severe restriction of visual field
* Severe deterioration of visual acuity
* Mental status changes due to hcph
92
Describe the 4+4 descriptions of the Hardy system
1- no expansion
2- expanding into the suprasellar cistern
3- obliteration of the anterior recess of the third ventricle
4- displacement of the 3rd ventricle floor.
I- Intact sellar floor
II- Enlarged sella
III- Localized perforation of the sellar floor
IV- Diffuse destruction of sella floor
93
What is the difference between Cushings disease and Cushings syndrome?
Cushings disease = due to hypersecretion of ACTH.
Cushings syndrome = the effect on the body from hypercortisonism.
94
Treatment of ACTH hypersecreting adenomas?
Most = transsphenoidal surgery
Some = medical treatment with Ketoconazole
95
What is the function of Ketoconazole?
Block adrenal steroid synthesis
96
The chiasm is located superior to the sella in 79%. But if not, its got special names and implications. What are these names?
Postfixed chiasm - more prone to optic chiasm compression---Ipsilateral loss of vision and contralateral quadrant anopsia.
Prefixed chiasm - compression of the optic tract when the chiasm is situated infront of the suprasellar area is homonymous hemianopsia.
97
What is the classical visual field deficit in pituitary tumors?
Bitemporal hemianopsia
98
What is the most common supratentorial pediatric tumor?
Astrocytoma
99
4 clinical signs of pediatric brain tumor
Vomiting
Arrest of development
Failure to thrive
Seizures
100
What type of tumor is medulloblastoma? Give another name for it.
Its an embryonal type of tumor. Another name is PNET - primitive neuroectodermal tumor
101
What does PNET stand for?
Primitive neuroectodermal tumor
102
What is Collins law?
Risk of recurrence is
Age at diagnosis + 9 months.
103
PNETS are called medulloblastoma in a specific location. What location?
posterior skullbase
104
Which are the two most common (in the right order) intralmedullary (spinal) tumors in children?
1. astrocytomas
2. ependymomas
105
Pediatric gliomas are recognised as distinct from their adult counterparts and got their own classification. Why?
* different genomic alterations
* different biological behaviour
* different clinical course
106
What is typical for pediatric glioblastoma?
It doesnt exist. The characteristic alterations seen in glioblastoma are not seen in pediatric cases and is therefore considered an adult tumor.
107
Is pilocytic astrocytoma a pediatric tumor?
No, its mostly seen in children, but its not pediatric-only and is found under "circumscribed astrocytic gliomas".
108
Why can imaging be crucial for accurate diagnostics?
For instance, diffuse and circumscribed gliomas need to be distinguished by imaging as the distinction can be difficult on pathology, especially in small samples.
109
So! New alterations to know for children.
Which are the low grade gliomas?
* Diffuse astrocytoma, MYB or MYBL1 altered
* Angiocentric glioma
* Polymorphous low-grade neuroepithelial tumor of the young
* Diffuse low-grade glioma, MAPK pathway altered.
110
Which are the pediatric type diffuse high grade gliomas?
* diffuse hemispheric glioma H3 G34 mutant
* Diffuse pediatric type high grade glioma, H3-wt and IDH-wt
* Diffuse midline glioma, H3 K27 altered
* Infant type hemispheric glioma
111
What is typical for Diffuse midline glioma H3 K27 altered?
* Grade 4 regardlless of histology
* Midline location. Typically involves pons. - also called diffuse intrinsic pontine glioma.
* less than 10% 2-year survival
* Expansile infiltrative tumor centered in pons with varying degrees of cranial or caudal extension.
* Growth into prepontine cistern and engulfment of basilar artery is common.
* Obs! Enhancement is abscent or mild and heterogenous! Increases over time and is not a good sign.
112
How common is it that pediatric gliomas do not have H3 or IDH mutations?
1/3.
113
What is typical for pediatric type high grade glioma H3 wt, IDH wt?
* all ages of childhood.
* mostly supratentorial
* 3 major molecular entities:
1- MYCN ampl - most common and most aggressive. 26% 3 year survival.
114
Why are high grade astrocytomas with piloid features discussed as pediatric tumors when they are seen in all ages?
10% of the high grade astrocytomas with piloid features are seen in children.
115
Where are high grade astrocytomas with piloid features usually seen?
In cerebellum. 74%.
116
Prognosis of high grade astrocytomas with piloid features seems to be dependent on age. How?
Better outcomes in pediatric cases.
117
Pediatric ependymomas, just like adult ependymomas, are different in different locations. Describe the distribution of ependymomas in children in the three sites.
27% supratentorial.
73% posterior fossa
10% spinal.
118
So, in children, posterior fossa ependymoma are the most common. They exist in 2 subtypes. Which?
PFA and PFB - posterior fossa A and B.
119
What differs between posterior fossa ependymoma type A and B?
A are younger - children under 5 "exclusively" show A.
50% teenagers = Type B.
A= Higher incidence of recurrence and mortality.
B= Excellent outcome. many cured w GTR alone.
B has 50% recurrence after 5 years.
A= arise more lateral.
B tend to occur in the midline. (4th ventricle)
120
What is the most likely diagnosis?
- A 3 yo girl with a posterior fossa tumor that is situated laterally in the cerebellar hemisphere
Ependymoma type A
121
Pediatric Midline posterior fossa tumors:
* Ependymoma type B -teenagers, 4th ventricle
*circumscribed astrocytoma
* diffuse midline gliomas - typically involves pons - 7 yo
122
What is the 1st and 2nd most common malignant brain tumor of childhood?
1st = high grade gliomas.
2nd = medulloblastomas.
123
How does medulloblastomas present?
* midline masses
* roof of 4th ventricle
* associated masseffect
* hydrochephalus
124
What is the normal treatment of medulloblastoma in children?
* surgical resection
* radiation therapy
* chemotherapy
125
What influences the prognosis for medulloblastomas?
* grade of surgical resection
* precence of CSF mets at the time of diagnosis
* expression of HER2 oncogene and other molecular markers!! (4 groups)
126
What are the 4 groups of medulloblastomas?
* WNT
* SHH
* group3
* group4
127
Which is the most difficult differential diagnosis to medulloblastoma radiologically?
Atyical teratoid/rhabdoid tumors. (AT/RT)
128
Typical presentation of AT/RT?
* WHO gr 4
* children under 2 y/o
* 50% posterior fossa
* very aggressive
Surgery with debulking can be offered in some cases. Little if any response to chemotherapy. Death within a year.
129
Which is the most common type of brainstem glioma in children?
Diffuse midline glioma H3 K27-altered.
130
Where are diffuse midline gliomas usually situated in the infratentorial area?
Pontine.
131
What is usually the treatment of diffuse midline glioma H3 K27 altered?
Radiation.
surgery usually not possible.
132
What is the most common supratentorial pediatric tumor?
Astrocytoma
133
It has been belived that most pediatric tumors are infratentorial (60%) but it seems to be dependent on something. what?
Age. It varies a lot between age groups.
134
What are the three major infratentorial tumors in children?
* medulloblastoma (PNET)
* cerebellar astrocytoma
* ependymoma
135
What is the most common location for braintumors in children up to 3 yo?
Supratentorial.
136
What is the most common location of braintumors in ages above 10 y/o?
supratentorial.
137
Except for hcph, what special traits must be looked for in case of pineal tumors?
* Evaluation of the pituitary function.
* Visual field examination
138
Why should CSF and serum be measured for certain markers when a pineal tumor is found?
Alpha fetoprotein and beta human chorionic gonadotropin are pathognomonic for certain germ cell tumors.
139
Why is it important if it is a germ cell tumor?
No need for surgery, chemotherapy and radiation can be started immediately.
140
How common are pediatric pineal gland tumors?
10% of all ped brain tumors
141
What can make it possible not to need even to do a biopsy of the pineal tumor?
If beta hCG or alfa fetoprotein is found in likvor and/serum in the child, its pathogmomonic for certain germ cell tumors and radiotherapy and chemotherapy is the choice of treatment.
142
Which type of germ cell tumors are very radio-sensitive and which are more aggressive?
Germinomas are among the most radiosensitive tumors. NGGCTs (non.germinomatous germ cell tumors) such as choriocarcinoma and yolk sac tumors are more aggressive and chemotherapy and extensive craniospinal irradiation is needed.
143
What is the 3 year survival rate in children from craniopharyngeoma?
95%
144
Parinaud syndrome may be seen on presentation of extraxial teratomas. What is that?
* sunset sign - upward gaze palsy
* convergence-retraction nystagmus
* pupillary light-near dissociation (respond to near stimuli but not light)
145
Although Teratomas are uncommon in the general population, they account for the largest population of fetal intracranial neoplasms. How many percent of fetal brain tumors are Teratomas?
26-50%!!
146
DNETs are usually diagnosed after onset of seizures. What age?
under 20y/o
147
What syndrome is associated to DNETs?
Noonan syndrome.
148
According to radiopedia 2023, what are the 4 most common tumors in the posterior fossa in children?
* medulloblastoma
* pilocytic astrocytoma
* brainstem glioma
* ependymoma
* AT/RT
149
Is it more common with infra or supra-tentorial ependymomas?
infratentorial
150
Where are infratentorial ependymomas usually located
intraventricularly
151
One type of ependymoma is predominantly occuring in the filum terminale. Which?
Myxopapillary ependymoma.
152
Among intramedullary spinal tumors, how common is ependymomas?
Its the most common adult and second most common pediatric intramedullary tumor.
153
Are supratentorial ependymomas commonly extra or intraventricular?
Extraventricular.
154
Overall, what is the most common location for an ependymoma?
Posterior fossa.
155
Where are tanycytic ependymomas usually found?
In the spinal cord.
156
What NF diagnosis is associated to meningiomas?
NF2
157
Name a few familial syndromes associated to paragangliomas and pheochromocytomas
MEN2 (A, and B - RET genetic dist)
von Hippel Lindau disease
NF-1
158
What is Li-Fraumeni syndrome?
Its a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood and adult onset malignancies. Life time risk of malignancy for men is more than 70% and more than 90% for women.
159
What gene is most ogften associated to Li-Fraumeni syndrome?
p53.
160
What are the diagnostic criteria of NF1?
2 or more of the following:
* At least 6 cafe aulait macules
* Freckling in axillary or inguinal regions
* Optic glioma
* At least 2 Lisch nodules (iris hamartomas)
* At least two neurofibromas or one plexiform neurofibroma
* A distinctive osseus lesion (sphenoid dysplasia pr tibial pseudoarthrosis)
* A first degreee relative with NF1
161
Main Diagnostic criteria for NF2
1. Bilateral vestibular schwannomas
or
2. 1st degree relative + Unilateral vestibular schwannoma OR 2 of:
meningioma, glioma, schwannoma or juvenile posterior lenticular opacities
162
What is the chromosome location and name of protein mutated in NF2?
22q12 - Merlin
163
What is the name of the mutated protein in NF1?
Neurofibromin.
164
describe medulloblastoma.
Medulloblastomas are the second most common malignant brain tumor of childhood, with only high-grade gliomas being more common. They most commonly present as midline masses in the roof of the 4th ventricle with associated mass effect and hydrocephalus.
165
Treatment and prognosis of medulloblastoma?
Treatment typically consists of surgical resection, radiation therapy, and chemotherapy, with the prognosis strongly influenced by surgical resection, the presence of CSF metastases at the time of diagnosis, molecular and histological features and expression of the c-erbB-2 (HER2/neu) oncogene.
On this page:
166
In the 5th edition (2021) of the WHO classification of CNS tumors, additional subgroups have been recognized based on DNA-methylation profiling and/or transcriptome profiling 17.
What are the groups?
medulloblastoma, WNT-activated
medulloblastoma, SHH-activated
TP53-wildtype
TP53-mutant
subgroups 1-4
non-WNT/non-SHH, further divided into:
group 3 and group 4
subgroups 1-8
167
WNT (~10%)
children and adults (not seen in infancy)
M:F 1:2
SHH-activated TP53-wildtype (~20%)
infants and adults (rare in children)
M:F 1:1
SHH-activated TP53-mutant (~10%)
children
M:F 3:1
group 3 (~25%)
Infants and children (rare in adults)
M:F 2:1
group 4 (~35%)
Typically children but encountered in all age groups
M:F 3:1
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Location and outcome in medulloblastoma dependent on group.
cerebellar peduncle/foramen of Luschka
very likely WNT-activated tumors and therefore best prognosis
cerebellar hemisphere
very likely SHH subgroup and therefore intermediate prognosis
likely desmoplastic/nodular/medulloblastoma with extensive nodularity (MBEN)
midline
may be group 3, group 4 or SHH
typically infants with a tumor with ill-defined margins but prominent enhancement: likely group 3 (or SHH) and therefore worst prognosis
typically children with a tumor with well-defined margins but mild or no enhancement: likely group 4 and therefore slightly better prognosis
adults with variably defined and variably enhancing tumors: most likely SHH; hemorrhage raises the probability of group 4 13
