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AP RCPA VIVA > Tumour Syndromes > Flashcards

Tumour Syndromes Flashcards

1
Q

Carney Triad

A

GIST (esp. epithelioid gastric GIST)
Pulmonary chondroma
Paraganglioma

(non-familial, SDHC hypermethylation)

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2
Q

BRCA1

A

Autosomal dominant

Breast cancer (IBC with medullary features)

Serous carcinomas of the ovary

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3
Q

BRCA2

A

Autosomal dominant

Breast cancer
Male breast cancer
Serous carcinomas of the ovary
Prostate 
Pancreas
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4
Q

Syndromes associated with breast cancer

A 
BRCA 1
BRCA 2
Li-Fraumeni (TP53)
Cowden's / PTEN hamartoma tumour syndrome
Peutz-Jeugher (STK11)
Hereditary diffuse gastric cancer (CDH1)
Ataxia telangiectasia
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5
Q

Syndromes Associated with CRC

A

Lynch Syndrome (variants: Turcot, Muir -Torre)

Familial Adenomatous Polyposis FAP (variants: Turcot, Gardner)

Sessile serrated polyposis syndrome

Peutz-Jegher syndrome

Juvenile polyposis

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6
Q

Syndromes Associated with Gastric Cancer

A

Lynch Syndrome

FAP

Peutz-Jegher syndrome

CDH1 mutation (hereditary diffuse gastric cancer)

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7
Q

Syndromes Associated with Renal Neoplasms

A

VHL - Clear cell RCC

BAP1 hereditary disposition syndrome - CCRCC

Birt-Hogg-Dube - Hybrid oncocytomas - chromophobe

HLRCC - FH deficient RCC

Carney-Stratakis syndrome - SDH deficient RCC

Hereditary papillary RCC (MET) - papillary RCC

WAGR, Denys-Drasch, Beckwith-Wiedeman - Wilms

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8
Q

Syndromes Associated with Bone Tumours

A

McCune Albright:
Non familial, GNAS, fibrous dysplasia (polyostotic)

Mazabraud:
Non familial, GNAS, fibrous dysplasia

Ollier disease:
Non familial, Multiple enchondromas

Mafucci syndrome:
Non familial, Multiple enchondromas plus haemangiomas (spindle cell)

Multiple hereditary exostoses:
Familial, osteochondromas

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9
Q

DICER1 syndrome

A

AD, DICER1

Pleuropulmonary blastoma
Cystic nephroma
Sertoli-Leydig cell tumours
MNG
Other: gyandroblastoma, pituitary blastoma
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10
Q

BAP1 Hereditary Predisposition Syndrome

A

AD, BAP1

Uveal and skin melanoma
Mesothelioma
Clear cell RCC
BCC

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11
Q

Features of Cowden Syndrome

A

AD, PTEN

Multiple neoplasms and hamartomas of endo, ecto or mesodermal origin

GI: polyps of any kind incl. mucosal lipoma, neuromas

Breast: >50% lifetime risk, often bilateral

Skin: trichilemmomas, vitiligo, cafe au lait spots, epidermoid cysts

Soft tissue: lipomas, neurofibromas, leiomyomas, haemangiomas, lymphangiomas

Other: thyroid, RR, merkle cell carcinoma, lymphoma, melanoma, meningioma

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12
Q

Carney-Stratakis Syndrome

A

AD, SDHA, SDHB, SDHC, SDHD

Paragangliomas / Phaemochromocytoma

GIST (epithelioid, gastric, children / YA)

SDH deficient RCC

Pituitary adenomas (rarely)

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13
Q

Carney Complex (Syndrome)

A

AD, PRKARIA.

“LAMB” think pigment, myxomas, endocrine

  • Lentigenes
  • Atrial myxomas, skin myxomas, myxoid fibroadenomas
  • Pigmented and calcifying lesions
  • epithelioid blue naevus
  • large cell calcifying Sertoli cell tumour
  • malignant melanotic nerve sheath tumour
  • pigmented nodular adrenal cortical hyperplasia
  • Endocrine hyperactivity
  • GH / PRL producing pituitary adenomas
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14
Q

Tuberous Sclerosis Complex

A

TSC1 / TSC2

  • PECOMAS
  • renal AML, pulmonary LAM & clear cell tumour
  • CNS
  • cortical tubers
  • white matter heterotopia
  • SEGA
  • Cardiac rhabdomyoma
  • Skin
  • periungual fibromas
  • angiofibromas
  • connective tissue naevi
  • Eosinophilic and cystic RCC
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15
Q

MEN1

A

AD, MEN1 (menin) - 3 P’s

Pituitary adenoma

Parathyroid hyperplasia

Pancreatic NET’s

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16
Q

MEN2A

A

AD, RET - 2P’s 1M

Medullary thyroid carcinoma (100%) & C Cell hyperplasia

Parathyroid hyperplasia (50%)

Phaeochromocytoma (50%)

17
Q

MEN2B

A

AD, RET - 1P, 2M’s, 1G

Medullary thyroid carcinoma (85%) & C Cell hyperplasia

Phaeochromocytoma (50%)

Diffuse ganglioneuromatosis of GIT (100%)

Marfanoid body habitus

18
Q

MEN4

A

AD, CDKN1B

Similar to MEN1

NE hyperplasia / tumours in pituitary, parathyroid, pancreas

NE tumours at other sites (cervix, bronchus, stomach)

19
Q

NF1

A

AD or sporadic, NF1 (neurofibromin)

Multiple neurofibromas, plexiform neurofibromas

Optic nerve gliomas (pilocytic astrocytoma)

Other: 
Ampullary somatostatinoma
Duodenal gangliocytic paraganglioma (COGNET)
GIST
Phaeochromocytoma
Juvenile xanthogranuloma

Non neoplastic:
Cafe au lait sponts
Lisch nodules (iris)
Skeletal lesions

20
Q

NF2

A

AD or sporadic, NF2 (merlin)

Bilateral acoustic schwannomas

Meningiomas (may be multiple)

Spinal cord ependymomas

Cafe au lait spots

21
Q

Features of FAP

A

AD, CTNNB1 mutations / Wnt Pathway

GIT:
Innumerable adenomas of large and small bowel
Fundic gland polyps (with dysplasia)

Soft tissue:
Gardner fibroma, nuchal fibroma
Desmoid fibromatosis
Osteomas

Other:
Cribriform morular thyroid neoplasm
Juvenile nasopharyngeal angiofibroma

Variant - Gardner (unerupted and supernumerary teeth, epidermoid cysts and pilomatrixoma)

Variant - Turcot (medulloblastoma)

22
Q

Lynch Syndrome / HNPCC

A 
HNPCC = clinical criteria (Amsterdam) met
Lynch = confirmed germline mutation in MMR
Colorectal carcinoma (80% lifetime risk)
Endometrium (60% lifetime risk)
Ovary (12%)
Stomach
Small bowel 
Pancreaticobiliary
Urothelial neoplasms of upper tract

Variant (Muir Torre) - sebaceous neoplasms and keratoacanthomas

Variant (Turcot) GBM

23
Q

Peutz Jegher Syndrome

A

AD, STK 11

Hamartomatous polyps (SI, colon, stomach)
HPV independent adenocarcinoma of cervix (gastric)
Sex cord tumour with annular tubules
Large cell calcifying Sertoli cell tumour
Pigmented macules on lips / mucosae

Increased risk of malignancy:
Colon, pancreas, stomach, small intestine
Ovary, endometrium, cervix, breast
Testis, lung

24
Q

VHL Syndrome

A

AD, VHL gene

Clear cell RCC
Haemangioblastoma
Phaeochromocytoma (clear cell change)
Serous cystadenoma of pancreas
PanNET (clear cell change)
Endolymphatic sac tumour of ear
Papillary cystadenoma of epididymis and broad ligament
25
Q

Birt-Hogg-Dube

A

Multiple RCC’s of various types
Hybrid oncocytomas - chromophobe RCC
Fibrofolliculomas and skin tags
Lung cysts and spontaneous basal PTX

AP RCPA VIVA (14 decks)

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