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F. Cancer Genetics = 5 - 10% > Uncommon tumours > Flashcards

Uncommon tumours Flashcards

1
Q

Pleuropulmonary blastoma

A

DICER1

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2
Q

Male breast cancer (n=4)

A

BRCA2 (>BRCA1)
XXY
PALB2
CHEK2

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3
Q

Osteochondromyxoma

A

PRKAR1A (Carney Complex)

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4
Q

Angiofibromas (n=3)

A
  • FLCN (Birt Hogg Dube)
  • TSC
  • MEN1
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5
Q

Cardiac myxoma

A

PRKAR1A (Carney Complex)

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6
Q

Malignant peripheral nerve sheath tumour

A

NF1

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7
Q

Cribriform-morular variant of papillary thyroid cancer

A

APC (FAP)

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8
Q

Parotid oncocytoma

A

FLCN (Birt Hogg Dube)

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9
Q

Bronchoalveolar carcinoma

A

TP53 (Li-Fraumeni Syndrome)

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10
Q

Subependymal giant cell astrocytoma (SEGA)

A

TSC

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11
Q

Cystic nephroma

A

DICER1

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12
Q

Adrenocortical carcinoma

A

TP53 (Li-Fraumeni Syndrome)

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13
Q

Clear-cell meningioma

A

SMARCE1

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14
Q

Ameloblastoma (a.k.a. malignant transformation of keratocyst)

A

(Gorlin Syndrome)

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15
Q

Signet ring carcinoma (a.k.a. diffuse gastric cancer)

A

CDH1 (Hereditary Diffuse Gastric Cancer Syndrome)

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16
Q

Glomus tumour

A

SDHx genes (Hereditary Paraganglioma-Pheochromocytoma Syndromes)

NF1

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17
Q

Juvenile myelomonocytic leukemia (JMML)

A

(RASopathies including NF1)

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18
Q

Multiple papillary cystadenomas of the epididymis or broad ligament

A

VHL

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19
Q

Oncocytoma / chromophobe renal cell carcinoma

A

FLCN (BHD)

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20
Q

Mucosal neuromas of lips/tongue

A

RET (MEN2B)

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21
Q

Hepatoblastoma (n=5)

A 
APC
Beckwith-Wiedemann syndrome
Hemihypertrophy
Simpson-Golabi Behmel
Trisomy 18
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22
Q

Choroid plexus carcinoma

A

TP53 (Li-Fraumeni Syndrome)

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23
Q

Early-onset astrocytoma

A

MSH3

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24
Q

Botryoid rhabdomyosarcoma of the cervix

A

DICER1

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25
Q

Optic glioma

A

NF1

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26
Q

Lobular breast cancer

A

CDH1 (Hereditary Diffuse Gastric Cancer Syndrome)

27
Q

Lymphangioleiomyomatosis

28
Q

Adenoma malignum of the cervix

A

STK11 (PJS)

29
Q

Gestational choriocarcinoma (in mother)

A

Fetus + father with TP53 variant

30
Q

Malignant phyllodes tumour

A

TP53 (Li-Fraumeni Syndrome)

31
Q

Pineoblastoma (n=2)

A

DICER1

RB1

32
Q

Small cell carcinoma of the ovary, hypercalcemic type

33
Q

Bilateral vestibular schwannomas (a.k.a. acoustic neuromas)

34
Q

Linitis plastica

A

CDH1 (Hereditary Diffuse Gastric Cancer Syndrome)

35
Q

Ciliary body medulloepithelioma

36
Q

Primary pigmented nodular adrenocortical disease

A

PRKAR1A (Carney Complex)

37
Q

Large calcifying Sertoli cell tumours (n=2)

A

STK11 (PJS)

PRKAR1A (Carney Complex)

38
Q

Medulloblastoma (a.k.a. primitive neuroectodermal tumour) (n=4)

A

SUFU (Gorlin Syndrome; SUFU > PTCH1) if SHH subgroup
TP53 (Li-Fraumeni Syndrome) if SHH subgroup and/or chromothripsis
APC (FAP) if WNT subgroup
BRCA2 and PALB2 (Fanconi anemia) if non-WNT subgroup / group 3

39
Q

Multifocal micronodular pneumocyte hyperplasia

40
Q

Atypical teratoid rhabdoid tumour (ATRT)

41
Q

Hypodiploid ALL (in childhood)

A

TP53 (Li-Fraumeni Syndrome)

42
Q

Angiomyolipoma

43
Q

Hyperparathyroidism + ossifying fibromas of the jaw

44
Q

Retinoblastoma

45
Q

Transitional carcinomas of the ureter and renal pelvis

A

(Lynch Syndrome)

46
Q

Pheochromocytoma

A 
SDHx genes ( Hereditary Paraganglioma-Pheochromocytoma Syndromes)
RET (MEN2)
VHL (type 2)
NF1
MAX
TMEM127
47
Q

Pituitary blastoma

48
Q

Schwannomatosis

49
Q

Cerebellar dysplastic gangliocytoma (a.k.a. Lhermitte-Duclos disease)

50
Q

Psammomatous melanotic schwannoma

A

PRKAR1A (Carney Complex)

51
Q

Anaplastic rhabdomyosarcoma

A

TP53 (Li-Fraumeni Syndrome)

52
Q

Wilms tumour (n=8)

A 
WT1 (WAGR, Denys-Drash, Frasier, isolated)
Hemihypertrophy
Beckwith-Wiedemann syndrome
Bohring-Opitz
Mulibrey nanism
Perlman
Simpson-Golabi Behmel
Trisomy 18
53
Q

Gastrointestinal stromal tumour (GIST) (n=4)

A

PRKAR1A (Carney Complex)
SDHx genes ( Hereditary Paraganglioma-Pheochromocytoma Syndromes)
SHDx genes (Carney-Stratakis Syndrome)
NF1

54
Q

Neuroblastoma / Ganglioneuroblastoma / Ganglioneuroma (n=2)

A

ALK

PHOX2B

55
Q

Nasal chondromesenchymal hamartoma

56
Q

Acute megakaryocytic leukemia

A

Trisomy 21

57
Q

Pancreatic neuroendocrine tumour

58
Q

Gastric adenocarcinoma and proximal polyposis of stomach (GAPPS)

A

APC (but not FAP)

59
Q

Juvenile xanthogranuloma

60
Q

Endolymphatic sac tumour

61
Q

Hemangioblastoma

62
Q

Bilateral ovarian cystadenomas

63
Q

Parotid monomorphic adenoma

64
Q

Hereditary papillary renal cell cancer

F. Cancer Genetics = 5 - 10% (9 decks)

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