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Tumour > Repetera-utvalda > Flashcards

Repetera-utvalda Flashcards

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.

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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

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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.

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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
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5
Q

What is MGMT?

A

o6-metylguanihn-DNA-metyltransferase

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6
Q

Something is special about some spinal ependymoma and they even got their own name. What?

A

MYCN amplified.

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7
Q

What is the definition of an oligodendroglioma in WHO CNS 4?

A
  • 1p/19q codeletion
  • IDH mutation
  • astrocytic appearance
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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

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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.

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10
Q

what alkylating cyt is used for methylated MGMT tumors?

A

Temozolomid.

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11
Q

What dubbeldeletion is strongly connected to oligodendroglioma?

A

1p19q deletion.

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12
Q

What clinical traits are 1p19q codeletion associated with?

A

better prognosis and better response to cyt treatment. (uns)

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13
Q

What is IDH?

A

the enzyme isocitratedehydrogenas 1 and 2.

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14
Q

What tumor is H3, G34 mutation associated to?

A

(pediatric) diffuse hemispheric glioma, H3G34. (WHO grade 4)

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15
Q

What tumor is H3K27 mutations associated to?

A

(pediatric) diffuse midline glioma, H3K27. (WHO grade 4, more aggressive than H3G34)

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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

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17
Q

What does a P53 mutation suggest?

A

An astrocytic tumor. ( in oposition to oligodendroglioma)

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18
Q

When is 1p/19q deletion tested?

A

In all IDH mutated glioma grade II and III w kept ATRX expression.

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19
Q

When is ATRX immunohistochemistry done?

A

In all astrocytoma and oligodendroglioma, if nuclear ATRX is lost, it is NOT an oligodendroglioma.

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20
Q

When is TERT promotor mutaion controlled?

A

In IDH wt glioma with grade II or III histology

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21
Q

Loss of ———–expression is a strong indication of a astrocytoma and not a oligodendroglioma.

A

ATRX

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22
Q

Mutation of ———is a strong indication of Astrocytoma and not Oligodendroglioma

A

p53

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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

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24
Q

What is bevacizumab?

A

An angiogenes inhibiting agent.

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25
Q

What is “RANO”?

A

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.

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26
Q

What are the outcomes in RANO?

A
  • response
  • partiell response
  • stable disease
  • progression
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27
Q

What is the drug used for flourescence based visualization of tumor tissue called?

A

5-aminolevulinic acid.

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28
Q

What determibes the timing, dosing and scheduling of radiotherapy?

A
  • disease subtype
  • age
  • KPS
  • recidual tumor volume.
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29
Q

When should radiotherapy start after surgery?

A

3-5 weeks

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30
Q

What is the most common dose of radiotherapy for grade 2-3 gliomas?

A

50-60 Gy, in 1.8-2 Gy daily fractions.

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31
Q

What does hypofractioned radiotherapy mean?

A

Higher dose per fraction, and a lower total dose. ex 15x2.67Gy.

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32
Q

How much is added to “the gross tumour volume” to account for microscopic invasion?

A

1-2 cm.

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33
Q

What are requirements for pharmacological treatment of glioma pt?

A
  • hepatic and renal laboratory values within the normal ranges
  • exclusion of major lung or heart disease
  • exclusion of ongoing infection
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34
Q

What is Temozolomide?

A

An oral DNA alkylating agent that penetrates the BBB.

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35
Q

What are the risks with Temozolomide treatment?

A

After 2-3 weeks:
* myelosuppression - noteably thrombocytopenia as its main dose-limiting toxicity
* hepatic function

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36
Q

What is usually the composition of PCV?

A
  • Lomustine (nitrosurea alkylating)
  • Procarbazine
  • Vincristine
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37
Q

Therapy recommendations for IDH-mutant 1p/19q codeleted oligodendroglioma WHO grade 2

A
  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:
  4. Radiotherapy
  5. PCV.
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38
Q

2nd line treatment for all gliomas

A

Options determined by KPS, neurologic function and prior treatment.
* repeat surgery
* alkylating chemotherapy
* Re-irradiation
* Experimental therapy

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39
Q

Is there any “rescue” third line treatment for low grade glioma if neither radiotherapy or alkylating worked or patient was intolerant?

A

Only for IDH mut, 1p/19q codeletion tumors=oligodendrogliomas.
Bevacizumab, but its unknown what effect it would have.

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40
Q

First line treatment for Astrocytoma, IDH mut, WHO 2?

A

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.

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41
Q

Whats the recomendations for 1st line treatment of grade 3 IDH mut astrocytomas?

A

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.

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42
Q

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?

A

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).

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43
Q

Does radiotherapy have a role in the treatment of Glioblastomas?

A

For decades, radiotherapy (60 Gy in 1.8–2 Gy fractions) has been the standard of care for glioblastoma, approximately doubling median OS duration.

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44
Q

What is first line treatment for Oligodendroglioma grade 3?

A

For grade 3, usually straight to Radiotherapy followed by PCV.

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45
Q

1st line treatment for Astrocytoma, IDH mutant, WHO grade 4?

A

Radiotherapy followed by TEMOZOLOMIDE wo/w CONCOMITANT temozolomide

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46
Q

Treatment of Glioblastoma after surgery/biopsy for pt over 70 yo

A

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).

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47
Q

Glioblastoma - what cyto to use in the newly diagnosed setting?

A

Combining temozolomide with lomustine might extend OS in patients with MGMT promoter-methylated glioblastoma

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48
Q

Glioblastoma - second surgery?

A

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)

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49
Q

EANO _ rec:
Does it matter if a glioblastoma patient has a methylated MGMT promotor?

A

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

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50
Q

EANO _ rec:
The findings of MGMT methylation dependency for reslut of treatment has changed rec. for elderly (over 70 yo). How?

A

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

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51
Q

EANO rec:
Steroids in glioblastoma?

A

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.

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52
Q

How many % of brain tumors are constituted by intracranial germ cell tumors?

A

about 1%

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53
Q

The male:female ratio is interresting in the non-germinatous tumors of the pineal. how does it look?

A

M:F = 9:1

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54
Q

As germinomas account for 60-80% of all germ cell tumors intracranially, a dichotomized expression for germ cell tumors are commonly used. Which?

A
  • germinomas
  • non-germinatous germ cells
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55
Q

where are germ cell tumors usually located?

A

They are midline clustered with a predilection of the PINEAL (2x all other sites) and suprasellar regions.

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56
Q

Compare prognosis of germinomas and non-germinomatous tumors.

A
  • germnomas are exquisitely radiosensitive and cure ashived with radiation alone in 80-90% of pt.
  • Non-germonomatous tumors have survvival rate of 40-70%
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57
Q

Where are neurohypophyseal tumors situated?

A

In the neurohypophys - posterior part of the pituitary gland

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58
Q

What are the three most common abnormalities in the pituitary gland?

A
  • Pituitary adenoma
  • Rathkes cleft cyst
  • Craniopharyngeoma
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59
Q

differential diagnostics for the pituitary stalk (mixed adult and children)

A
  • Rathces cleft cyst
  • craniopharyngeoma
  • germinoma
  • eosinophilic granuloma
  • metastasis
    *(lymphoma)
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60
Q

Differential diagnostics of the optic chiasm itself

A
  • gliomas
  • MS
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61
Q

What are the differential diagnostics in the hypothalamus?

A

No1 = Gliomas.
In children:
* Hamartomas
* Germinomas
* Eosinophilic granuloma

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62
Q

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?

A

It is the supracavernous segment. It lies just lateral to the pituitary stalk.

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63
Q

What structures run in the cavernous sinus?

A

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).

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64
Q

Which of the CN is located more medially in the sinus and run just caudal to the carotid artery?

A

Abducens. CN VI.

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65
Q

What is the normal pathway for bacteria and fungal infections to spread from the sphenoid sinus intracranially?

A

Via the cavernous sinus.

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66
Q

Difine a pituitary microadenoma

A

Less than 10mm

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67
Q

What is the first radiological diff diagnosis of microadenoma?

A

Rathkes cleft cysts.

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68
Q

What is the most common problem for patients with microadenoma?

A

Hyperprolactinemia

69
Q

What is the treatment of Prolactinoma?

A

Bromocriptine

70
Q

What can make something bright on an unenhanced T1 weighted MRI?

A
  • Blood or Proteinacious fluid
  • Fat
71
Q

Does normal pituitary gland and normal pituitary stalk enhance with Gd contrast?

A

Yes they do. They are both extracerebral masses (extraaxial).

72
Q

Why is it important to see MRI both w/o and with Gd in a tumor in the sella area?

A

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
Q

What three pathologies might be derived from Rathkes cleft epithelium?

A
  • Rathkes cleft cysts
  • Craniopahryngeoma
74
Q

How are Craniopharyngeomas usually behaving?

A
  • Benign but locally invasive.
  • Cyst with Thick walls (unlike rathkes cysts) and multiple nodules
    *
75
Q

How is surgery for Cranipharyngeomas?

A

Difficult. They grow multiple nodules along the skull base and sinuate aling the fissures.
Often incomplete resections.

76
Q

Typical radiographic presentation of craniopharyngeoma ? (50% of cases)

A

*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
Q

What hormones are produced in the anterior lobe of the pituitary gland?

A
  • TRH
  • GnRH
  • GHRH
  • CRH
  • Prolactine
78
Q

Which of the hormones of the hypothalamus works inhibitory on the anterior lobe?

A

Dopamine. It inhibits the production of Prolactine in the anterior lobe.

79
Q

What effect does a compression of the stalk have on production of hormones in the anterior piuitary lobe?

A

Decreased production of all hormones except Prolactine that is increased.

80
Q

In what cistern might a hamartoma hang down?

A

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
Q

What is good and what is bad with a Hamartoma?

A

They are benign lesions, but located badly.

82
Q

For what patientgroup is gliomas by the optic chiasm common?

A

NF 1 patients.

83
Q

What is the most common lesion of the clivus?

A

Chordomas

84
Q

What would be the differential diagnosis if you find a mass behind the pituitary and infront of the mamillary bodies and perhaps also pons?

A
  1. Chordoma
  2. metastases
  3. chondrosarcoma
85
Q

What should be the normal signal intensity in a sagittal view of a normal clivus?

A

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
Q

How often is increased levels of growth hormones due to pituitary adenoma?

A

more than 95%

87
Q

What diseases occur from increased growth hormon release?

A

Adults - Acromegali
Children - Gigantism

88
Q

What disease is caused by corticotropin releasing tumors of the pituitary?

A

Cushings disease.

89
Q

What to suspect if only one hormone is depressed?

A

Autoimmune hypophysitis

90
Q

What to ask if diabetes insipidus is seen preoperatively?

A
  • Autoimmune hypophysisis
  • Hypothalamic glioma
  • Supracellar germ cell tumor
91
Q

Signs of pituitary apoplexy?

A
  • 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
Q

Describe the 4+4 descriptions of the Hardy system

A

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
Q

What is the difference between Cushings disease and Cushings syndrome?

A

Cushings disease = due to hypersecretion of ACTH.
Cushings syndrome = the effect on the body from hypercortisonism.

94
Q

Treatment of ACTH hypersecreting adenomas?

A

Most = transsphenoidal surgery

Some = medical treatment with Ketoconazole

95
Q

What is the function of Ketoconazole?

A

Block adrenal steroid synthesis

96
Q

The chiasm is located superior to the sella in 79%. But if not, its got special names and implications. What are these names?

A

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
Q

What is the classical visual field deficit in pituitary tumors?

A

Bitemporal hemianopsia

98
Q

What is the most common supratentorial pediatric tumor?

A

Astrocytoma

99
Q

4 clinical signs of pediatric brain tumor

A

Vomiting
Arrest of development
Failure to thrive
Seizures

100
Q

What type of tumor is medulloblastoma? Give another name for it.

A

Its an embryonal type of tumor. Another name is PNET - primitive neuroectodermal tumor

101
Q

What does PNET stand for?

A

Primitive neuroectodermal tumor

102
Q

What is Collins law?

A

Risk of recurrence is
Age at diagnosis + 9 months.

103
Q

PNETS are called medulloblastoma in a specific location. What location?

A

posterior skullbase

104
Q

Which are the two most common (in the right order) intralmedullary (spinal) tumors in children?

A
  1. astrocytomas
  2. ependymomas
105
Q

Pediatric gliomas are recognised as distinct from their adult counterparts and got their own classification. Why?

A
  • different genomic alterations
  • different biological behaviour
  • different clinical course
106
Q

What is typical for pediatric glioblastoma?

A

It doesnt exist. The characteristic alterations seen in glioblastoma are not seen in pediatric cases and is therefore considered an adult tumor.

107
Q

Is pilocytic astrocytoma a pediatric tumor?

A

No, its mostly seen in children, but its not pediatric-only and is found under “circumscribed astrocytic gliomas”.

108
Q

Why can imaging be crucial for accurate diagnostics?

A

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
Q

So! New alterations to know for children.
Which are the low grade gliomas?

A
  • Diffuse astrocytoma, MYB or MYBL1 altered
  • Angiocentric glioma
  • Polymorphous low-grade neuroepithelial tumor of the young
  • Diffuse low-grade glioma, MAPK pathway altered.
110
Q

Which are the pediatric type diffuse high grade gliomas?

A
  • 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
Q

What is typical for Diffuse midline glioma H3 K27 altered?

A
  • 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
Q

How common is it that pediatric gliomas do not have H3 or IDH mutations?

A

1/3.

113
Q

What is typical for pediatric type high grade glioma H3 wt, IDH wt?

A
  • all ages of childhood.
  • mostly supratentorial
  • 3 major molecular entities:
    1- MYCN ampl - most common and most aggressive. 26% 3 year survival.
114
Q

Why are high grade astrocytomas with piloid features discussed as pediatric tumors when they are seen in all ages?

A

10% of the high grade astrocytomas with piloid features are seen in children.

115
Q

Where are high grade astrocytomas with piloid features usually seen?

A

In cerebellum. 74%.

116
Q

Prognosis of high grade astrocytomas with piloid features seems to be dependent on age. How?

A

Better outcomes in pediatric cases.

117
Q

Pediatric ependymomas, just like adult ependymomas, are different in different locations. Describe the distribution of ependymomas in children in the three sites.

A

27% supratentorial.
73% posterior fossa
10% spinal.

118
Q

So, in children, posterior fossa ependymoma are the most common. They exist in 2 subtypes. Which?

A

PFA and PFB - posterior fossa A and B.

119
Q

What differs between posterior fossa ependymoma type A and B?

A

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
Q

What is the most likely diagnosis?
- A 3 yo girl with a posterior fossa tumor that is situated laterally in the cerebellar hemisphere

A

Ependymoma type A

121
Q

Pediatric Midline posterior fossa tumors:

A
  • Ependymoma type B -teenagers, 4th ventricle
    *circumscribed astrocytoma
  • diffuse midline gliomas - typically involves pons - 7 yo
122
Q

What is the 1st and 2nd most common malignant brain tumor of childhood?

A

1st = high grade gliomas.
2nd = medulloblastomas.

123
Q

How does medulloblastomas present?

A
  • midline masses
  • roof of 4th ventricle
  • associated masseffect
  • hydrochephalus
124
Q

What is the normal treatment of medulloblastoma in children?

A
  • surgical resection
  • radiation therapy
  • chemotherapy
125
Q

What influences the prognosis for medulloblastomas?

A
  • grade of surgical resection
  • precence of CSF mets at the time of diagnosis
  • expression of HER2 oncogene and other molecular markers!! (4 groups)
126
Q

What are the 4 groups of medulloblastomas?

A
  • WNT
  • SHH
  • group3
  • group4
127
Q

Which is the most difficult differential diagnosis to medulloblastoma radiologically?

A

Atyical teratoid/rhabdoid tumors. (AT/RT)

128
Q

Typical presentation of AT/RT?

A
  • 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
Q

Which is the most common type of brainstem glioma in children?

A

Diffuse midline glioma H3 K27-altered.

130
Q

Where are diffuse midline gliomas usually situated in the infratentorial area?

A

Pontine.

131
Q

What is usually the treatment of diffuse midline glioma H3 K27 altered?

A

Radiation.
surgery usually not possible.

132
Q

What is the most common supratentorial pediatric tumor?

A

Astrocytoma

133
Q

It has been belived that most pediatric tumors are infratentorial (60%) but it seems to be dependent on something. what?

A

Age. It varies a lot between age groups.

134
Q

What are the three major infratentorial tumors in children?

A
  • medulloblastoma (PNET)
  • cerebellar astrocytoma
  • ependymoma
135
Q

What is the most common location for braintumors in children up to 3 yo?

A

Supratentorial.

136
Q

What is the most common location of braintumors in ages above 10 y/o?

A

supratentorial.

137
Q

Except for hcph, what special traits must be looked for in case of pineal tumors?

A
  • Evaluation of the pituitary function.
  • Visual field examination
138
Q

Why should CSF and serum be measured for certain markers when a pineal tumor is found?

A

Alpha fetoprotein and beta human chorionic gonadotropin are pathognomonic for certain germ cell tumors.

139
Q

Why is it important if it is a germ cell tumor?

A

No need for surgery, chemotherapy and radiation can be started immediately.

140
Q

How common are pediatric pineal gland tumors?

A

10% of all ped brain tumors

141
Q

What can make it possible not to need even to do a biopsy of the pineal tumor?

A

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
Q

Which type of germ cell tumors are very radio-sensitive and which are more aggressive?

A

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
Q

What is the 3 year survival rate in children from craniopharyngeoma?

A

95%

144
Q

Parinaud syndrome may be seen on presentation of extraxial teratomas. What is that?

A
  • sunset sign - upward gaze palsy
  • convergence-retraction nystagmus
  • pupillary light-near dissociation (respond to near stimuli but not light)
145
Q

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?

A

26-50%!!

146
Q

DNETs are usually diagnosed after onset of seizures. What age?

A

under 20y/o

147
Q

What syndrome is associated to DNETs?

A

Noonan syndrome.

148
Q

According to radiopedia 2023, what are the 4 most common tumors in the posterior fossa in children?

A
  • medulloblastoma
  • pilocytic astrocytoma
  • brainstem glioma
  • ependymoma
  • AT/RT
149
Q

Is it more common with infra or supra-tentorial ependymomas?

A

infratentorial

150
Q

Where are infratentorial ependymomas usually located

A

intraventricularly

151
Q

One type of ependymoma is predominantly occuring in the filum terminale. Which?

A

Myxopapillary ependymoma.

152
Q

Among intramedullary spinal tumors, how common is ependymomas?

A

Its the most common adult and second most common pediatric intramedullary tumor.

153
Q

Are supratentorial ependymomas commonly extra or intraventricular?

A

Extraventricular.

154
Q

Overall, what is the most common location for an ependymoma?

A

Posterior fossa.

155
Q

Where are tanycytic ependymomas usually found?

A

In the spinal cord.

156
Q

What NF diagnosis is associated to meningiomas?

A

NF2

157
Q

Name a few familial syndromes associated to paragangliomas and pheochromocytomas

A

MEN2 (A, and B - RET genetic dist)
von Hippel Lindau disease
NF-1

158
Q

What is Li-Fraumeni syndrome?

A

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
Q

What gene is most ogften associated to Li-Fraumeni syndrome?

A

p53.

160
Q

What are the diagnostic criteria of NF1?

A

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
Q

Main Diagnostic criteria for NF2

A
  1. Bilateral vestibular schwannomas
    or
  2. 1st degree relative + Unilateral vestibular schwannoma OR 2 of:
    meningioma, glioma, schwannoma or juvenile posterior lenticular opacities
162
Q

What is the chromosome location and name of protein mutated in NF2?

A

22q12 - Merlin

163
Q

What is the name of the mutated protein in NF1?

A

Neurofibromin.

164
Q

describe medulloblastoma.

A

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
Q

Treatment and prognosis of medulloblastoma?

A

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
Q

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?

A

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
Q
A

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

168
Q

Location and outcome in medulloblastoma dependent on group.

A

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​

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