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

Uncommon tumours Flashcards

(64 cards)

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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
Optic glioma
NF1
26
Lobular breast cancer
CDH1 (Hereditary Diffuse Gastric Cancer Syndrome)
27
Lymphangioleiomyomatosis
TSC
28
Adenoma malignum of the cervix
STK11 (PJS)
29
Gestational choriocarcinoma (in mother)
Fetus + father with TP53 variant
30
Malignant phyllodes tumour
TP53 (Li-Fraumeni Syndrome)
31
Pineoblastoma (n=2)
DICER1 | RB1
32
Small cell carcinoma of the ovary, hypercalcemic type
SMARCA4
33
Bilateral vestibular schwannomas (a.k.a. acoustic neuromas)
NF2
34
Linitis plastica
CDH1 (Hereditary Diffuse Gastric Cancer Syndrome)
35
Ciliary body medulloepithelioma
DICER1
36
Primary pigmented nodular adrenocortical disease
PRKAR1A (Carney Complex)
37
Large calcifying Sertoli cell tumours (n=2)
STK11 (PJS) | PRKAR1A (Carney Complex)
38
Medulloblastoma (a.k.a. primitive neuroectodermal tumour) (n=4)
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
Multifocal micronodular pneumocyte hyperplasia
TSC
40
Atypical teratoid rhabdoid tumour (ATRT)
SMARCB1
41
Hypodiploid ALL (in childhood)
TP53 (Li-Fraumeni Syndrome)
42
Angiomyolipoma
TSC
43
Hyperparathyroidism + ossifying fibromas of the jaw
CDC73
44
Retinoblastoma
RB1
45
Transitional carcinomas of the ureter and renal pelvis
(Lynch Syndrome)
46
Pheochromocytoma
``` SDHx genes ( Hereditary Paraganglioma-Pheochromocytoma Syndromes) RET (MEN2) VHL (type 2) NF1 MAX TMEM127 ```
47
Pituitary blastoma
DICER1
48
Schwannomatosis
SMARCB1
49
Cerebellar dysplastic gangliocytoma (a.k.a. Lhermitte-Duclos disease)
PTEN
50
Psammomatous melanotic schwannoma
PRKAR1A (Carney Complex)
51
Anaplastic rhabdomyosarcoma
TP53 (Li-Fraumeni Syndrome)
52
Wilms tumour (n=8)
``` WT1 (WAGR, Denys-Drash, Frasier, isolated) Hemihypertrophy Beckwith-Wiedemann syndrome Bohring-Opitz Mulibrey nanism Perlman Simpson-Golabi Behmel Trisomy 18 ```
53
Gastrointestinal stromal tumour (GIST) (n=4)
PRKAR1A (Carney Complex) SDHx genes ( Hereditary Paraganglioma-Pheochromocytoma Syndromes) SHDx genes (Carney-Stratakis Syndrome) NF1
54
Neuroblastoma / Ganglioneuroblastoma / Ganglioneuroma (n=2)
ALK | PHOX2B
55
Nasal chondromesenchymal hamartoma
DICER1
56
Acute megakaryocytic leukemia
Trisomy 21
57
Pancreatic neuroendocrine tumour
VHL
58
Gastric adenocarcinoma and proximal polyposis of stomach (GAPPS)
APC (but not FAP)
59
Juvenile xanthogranuloma
NF1
60
Endolymphatic sac tumour
VHL
61
Hemangioblastoma
VHL
62
Bilateral ovarian cystadenomas
Proteus
63
Parotid monomorphic adenoma
Proteus
64
Hereditary papillary renal cell cancer
MET

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

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