Tumor Syndromes with CNS/PNS involvement

Question 1

Name the associated tumor syndrome:

Bilateral vestibular schwannomas

Answer 1

NF2

Question 2

Name the associated tumor syndrome:

Choroid plexus carcinoma

Answer 2

Li-Fraumeni

Question 3

Name the associated tumor syndrome:

Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease)

Answer 3

Cowden syndrome

Question 4

Name the associated tumor syndrome:

Embryonal tumor with multilayered rosettes lacking C19MC alteration

Answer 4

DICER1 syndrome

Question 5

Name the associated tumor syndrome:

Hemangioblastoma

Answer 5

VHL

Question 6

Name the associated tumor syndrome (3):

Hybrid neurofibroma/schwannoma

Answer 6

NF1
NF2
Schwannomatosis

Question 7

Name the associated tumor syndrome:

Child
IDH and H3 wild type
p53 positive
Glioblastoma

Answer 7

Li-Fraumeni

Question 8

Name the associated tumor syndrome (3):

Young
IDH-wildtype giant cell glioblastoma

Answer 8

Constitutional MMR deficiency
Lynch syndrome
Li-Fraumeni

Question 9

Name the associated tumor syndrome:

Adult
IDH1 p.R132C/S mutant astrocytoma

Answer 9

Li-Fraumeni

Question 10

Name the associated tumor syndrome:

Malignant melanotic nerve sheath tumor

Answer 10

Carney complex

Question 11

Name the associated tumor syndrome:

MPNST arising from a neurofibroma

Answer 11

NF1

Question 12

Name the associated tumor syndrome:

Child
Meningioma

Answer 12

NF2

Question 13

Name the associated tumor syndrome:

Multiple meningiomas

Answer 13

NF2

Question 14

Name the associated tumor syndrome:

Multiple neurofibromas
Plexiform neurofibroma
Massive soft tissue neurofibroma

Answer 14

NF1

Question 15

Name the associated tumor syndrome (2):

Multiple schwannomas
Schwannoma with mosaic SMARCB1 (INI1) expression

Answer 15

NF2
Schwannnomatosis

Question 16

Name the associated tumor syndrome:

Paraganglioma with loss of SDHB expression

Answer 16

Familial paraganglioma syndromes

Question 17

Name the associated tumor syndrome (2):

Pineoblastoma

Answer 17

DICER syndrome
Familial retinoblastoma syndrome

Question 18

Name the associated tumor syndrome:

Pituitary blastoma

Answer 18

DICER1 syndrome

Question 19

Name the associated tumor syndrome:

Primary intracranial sarcoma, DICER1-mutant

Answer 19

DICER1 syndrome

Question 20

Name the associated tumor syndrome:

Rhabdoid +/- papillary meningioma

Answer 20

BAP1 tumor predisposition syndrome

Question 21

Name the associated tumor syndrome:

Infant
Rhabdoid tumor

Answer 21

Rhabdoid tumor predisposition syndrome

Question 22

Name the associated tumor syndrome (3):

SHH-activated medulloblastoma, TP53 wild type

Answer 22

Nevoid basal cell carcinoma (Gorlin) syndrome
ELP1-medulloblastoma syndrome
GPR161 (Gorlin-like) syndrome

Question 23

Name the associated tumor syndrome (2):

SHH-activated, TP53 mutant medulloblastoma

Answer 23

Li-Fraumeni syndrome
Fanconi anemia

Question 24

Name the associated tumor syndrome:

SEGA

Answer 24

Tuberous sclerosis

Question 25

Name the associated tumor syndrome:

WNT-activated medulloblastoma, CTNNB1-wildtype

Answer 25

Familial adenomatous polyposis

Question 26

Name Gene, chromosome, protein:

Neurofibromatosis type 1

Answer 26

Gene: NF1
Chromosome: 17q11.2
Protein: Neurofibromin

Question 27

Name gene, chromosome, protein:

Neurofibromatosis type 2

Answer 27

Gene: NF2
Chromosome: 22q12
Protein: Merlin

Question 28

Name gene, chromosome, protein (2):

Schwannomatosis

Answer 28

Gene: SMARCB1
Chromosome: 22q11.23
Protein: SW1/SNF complexes

Gene: LZTR1
Chromosome: 22q11.23
Protein: Substrate adaptor in culling-3 ubiquitin ligase complexes

Question 29

Name gene, chromosome, protein:

Von Hippel-Lindau

Answer 29

Gene: VHL
Chromosome: 3p25.3
Protein: VHL

Question 30

Name gene, chromosome, protein (2):

Tuberous sclerosis

Answer 30

Gene: TSC1
Chromosome: 9q34
Protein: Hamartin

Gene: TSC2
Chromosome: 16p13.3
Protein: Tuberin

Question 31

Name gene, chromosome, protein:

Li-Fraumenin syndrome

Answer 31

Gene: TP53
Chromosome: 17p13.1
Protein: p53

Question 32

Name gene, chromosome, protein:

Cowden syndrome

Answer 32

Gene: PTEN
Chromosome: 10q23.21
Protein: phosphatase

Question 33

Name gene, chromosome, protein:

Constitutional mismatch repair deficiency syndrome (CMMRD)

Answer 33

Gene: MLH1, PMS2, MSH2, MSH6
Chromosome: 3p22.2, 7p22, 2p21-16.3, 2p16
Proteins: mismatch repair proteins

Question 34

Name gene, chromosome, protein:

Familial adenomatous polyposis 1 (FAP)

Answer 34

Gene: APC
Chromosome: 5q22
Protein: APC

Question 35

Name gene, chromosome, protein:

Nevoid basal cell carcinoma syndrome

Answer 35

Gene: PTCH1, PTCH2, SUFU
Chromosome: 9q22, 1p34, 10q24
Protein:

Question 36

Name gene, chromosome, protein:

Rhabdoid tumor predisposition

Answer 36

Gene: SMARCB1, SMARCA4
Chromosome: 22q11.23, 19p13.2
Protein: SW1/SNF complexes

Question 37

Name gene, chromosome, protein:

Carney complex

Answer 37

Gene: PRKAR1A
Chromosome: 17q24.2
Protein: PKA

Question 38

Name gene, chromosome, protein:

DICER1 syndrome

Answer 38

Gene: DICER1
Chromosome: 14q32.13
Protein: Dicer

Question 39

Name gene, chromosome, protein:

Melanoma-astrocytoma syndrome

Answer 39

Gene: CDKN2A
Chromosome: CDK2A
Protein: p16INK4a and p14ARF

Question 40

Name gene, chromosome, protein:

Familial retinoblastoma

Answer 40

Gene: RB1
Chromosome: 13q14.2
Protein: pRB

Question 41

Name gene, chromosome, protein:

BAP1 tumor predisposition syndrome

Answer 41

Gene: BAP1
Chromosome:3p21.1
Protein: BAP1

Question 42

Name gene, chromosome, protein:

Fanconi anemia

Answer 42

Gene: FANC, biallelic mutation in BRACA2 or PALB2
Chromosome: 16q24.3, 13q13.1, 16p12.2
Protein: FANC

Question 43

Name gene, chromosome, protein:

ELP1-medulloblastoma syndrome

Answer 43

Gene: ELP1
Chromosome: Loss of 9q
Protein: ELP