CNS Tumors

Question 1

Which tumors are common in children?

Answer 1

Pilocytic astrocytoma, glioblastoma, all other astrocytomas, ependymoma, oligodendrogliomas, embryonal including medulloblastomas, craniopharyngioma, germ cell tumors

Question 2

What are the most common pediatric tumors?

Answer 2

Embryonal/medulloblastomas and pilocytic

Question 3

Where are tumors usually located in adults?

Answer 3

Supratentorial

Question 4

Where are tumors usually located in children?

Answer 4

Infratentorial, cerebellum, and brainstem

Question 5

Which tumor is more common in adults?

Answer 5

Glioblastoma (new onset of seizure in adult think tumor)

Question 6

What are common pediatric brain tumors?

Answer 6

Astrocytomas, ependymoma, choroid plexus (papilloma, carcinoma), embryonal (medulloblastoma, PNET, AT/RT), neuronal and glial (ganglioglioma, DNET), non-neuroectodermal (craniopharyngioma, germ cell tumor)

Question 7

What is a grade I tumor?

Answer 7

Low proliferative potential, possibility of cure by resection

Question 8

What is a grade II tumor?

Answer 8

Infiltration, despite low proliferative potential likely to recur; some grade II progresses to higher grade; cytological atypia (ex. Diffuse astrocytoma); 1 parameter

Question 9

What is a grade III tumor?

Answer 9

Need to be treated with radiation and chemo; anaplasia and mitoses (ex. Anaplastic astrocytoma); 2 parameters

Question 10

What is a grade IV tumor?

Answer 10

Rapid pre and post-op evaluation, fatal outcome, microvascular proliferation and/or necrosis (contain 3-4 parameters)

Question 11

What are the 4 histological parameters for gliomas?

Answer 11

Nuclear atypia, mitoses, microvascular proliferation, necrosis

Question 12

What are examples of grade I astrocytomas?

Answer 12

SEGA and pilocytic astrocytoma

Question 13

What are examples of grade II astrocytomas?

Answer 13

Diffuse astrocytoma, PXA, pilomyxoid astrocytoma

Question 14

What are examples of grade III astrocytomas?

Answer 14

Anaplastic astrocytoma

Question 15

What are examples of grade IV astrocytomas?

Answer 15

Glioblastoma (GBM), giant cell GBM, gliosarcoma

Question 16

Grade I astrocytomas usually occur at what age?

Answer 16

Usually first decade

Question 17

Grade II astrocytomas usually occur at what age?

Answer 17

Usually 3rd-4th decade

Question 18

Grade III astrocytomas usually occur at what age?

Answer 18

Usually 5th decade

Question 19

Grade IV astrocytomas usually occur at what age?

Answer 19

Usually 6th decade and beyond

Question 20

Elderly individual with well differentiated lesion should cause what?

Answer 20

Should raise concern of sampling

Question 21

What are the histological subtypes of medulloblastoma?

Answer 21

Classic (70% of MBs), desmoplastic (PTCH1 gene on Chr 9 which has a better prognosis), Anaplastic, large cell, MB with extensive nodularity (MBEN)

Question 22

What are the molecular subtypes of medulloblastoma?

Answer 22

WNT, SHH, Grp 3 (non-Wnt/non-Shh)-MYC, group 4 (non-wnt/non-shh)-MYCN,CDK6

Question 23

PTCH1 gene is associated with what?

Answer 23

Nevoid BCC syndrome (NBCCS aka Gorlin syndrome)

Question 24

APC gene is associated with what?

Answer 24

Familial adenomatous polyposis; part of WNT

Question 25

What is TP53 associated with?

Answer 25

Li-Fraumeni syndrome; TP53 part of SHH

Question 26

What are some differential diagnoses for medulloblastoma?

Answer 26

Ependymoma, pilocytic astrocytoma, high grade infiltrating astrocytoma, atypical teratoid/rhabdoid tumor, metastatic carcinoma in adult pts

Question 27

What are some characteristics of ependymoma?

Answer 27

Perivascular pseudorosettes, but less cellular and more fibrillar than medulloblastoma

Question 28

What are some characteristics of pilocytic astrocytoma?

Answer 28

Cystic (medulloblastoma solid), biphasic architecture, lower cellularity

Question 29

What are some characteristics of high grade infiltrating astrocytoma?

Answer 29

Usually more pleomorphic than medulloblastoma

Question 30

What are some characteristics of AT/RT?

Answer 30

<2yo, large cells with paranuclear filamentous inclusions; problem with large cell medulloblastoma

Question 31

What are some familial syndromes associated with pheochromocytoma and extra adrenal paragangliomas?

Answer 31

Neurofibromatosis type 1 and Von hippel lindau

Question 32

What gene is associated with neurofibromatosis type 1?

Answer 32

NF1

Question 33

What is the associated lesion for neurofibromatosis type 1?

Answer 33

Pheochromocytoma

Question 34

What are some other features related to neurofibromatosis type 1?

Answer 34

Neurofibromatosis, cafe au lait spots, optic nerve glioma

Question 35

What gene is associated with Von Hippel Lindau syndrome?

Answer 35

VHL

Question 36

What is the associated lesion for Von Hippel Lindau syndrome?

Answer 36

Pheochromocytoma, paraganglioma (uncommon)

Question 37

What are some other features related to Von Hippel Lindau syndrome?

Answer 37

RCC, hemangioblastoma, pancreatic endocrine neoplasm

Question 38

What are some familial cancer syndrome that have cutaneous manifestations?

Answer 38

Nevoid basal cell carcinoma syndrome, Cowden syndrome, neurofibromatosis I and II, tuberous sclerosis

Question 39

What is the genetic profile of Nevoid BCC syndrome?

Answer 39

AD inheritance, located on Chr 9q22 and associated gene is PTCH

Question 40

What is the normal function and manifestation loss in Nevoid BCC syndrome?

Answer 40

Developmental patterning gene; multiple BCC, medulloblastoma, jaw cysts

Question 41

What is the genetic profile for Cowden syndrome?

Answer 41

AD inheritance, Chr 10q23, associated gene is PTEN

Question 42

What is the normal function and manifestation of loss for Cowden syndrome?

Answer 42

Lipid phosphate; benign follicular appendage tumors (trichilemmomas), internal adenocarcinoma (often breast or endometrial)

Question 43

What is the normal function and manifestation of loss for neurofibromatosis I?

Answer 43

Negatively regulates RAS signaling; neurofibromas

Question 44

What is the normal function and manifestation of loss for neurofibromatosis II?

Answer 44

Integrates cytoskeletal signaling; neurofibromas and acoustic neuromas

Question 45

What is the genetic profile for tuberous sclerosis?

Answer 45

AD inheritance, Chr 9q34 and 16p13, genes include TSC1 (hamartin) and TSC2 (tuberin)

Question 46

What is the normal function and manifestation of loss for tuberous sclerosis?

Answer 46

Work together in a complex that negatively regulates mTOR; angiofibromas, intellectual disability

Question 47

What CNS tumors are associated with Cowden syndrome?

Answer 47

Dysplastic gangliocytoma

Question 48

What CNS tumors are associated with Li Fraumeni syndrome?

Answer 48

Medulloblastomas

Question 49

What CNS tumors are associated with Turcot syndrome?

Answer 49

Medulloblastoma or glioblastoma (mutations in APC or mismatch repair genes)

Question 50

What CNS tumors are associated with Gorlin syndrome?

Answer 50

Medulloblastoma (mutations in PTCH gene resulting in upregulation of shh pathway)