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UChicago High Yield Board Review > Tumor syndromes > Flashcards

Tumor syndromes Flashcards

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1
Q

Tuberous Sclerosis - Mutation

A

TSC1, TSC2 ; autosomal dominant

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2
Q

Tuberous Sclerosis - Features

A

Skin manifestations (adenoma sebaceum, ash leaf spots, shagreen patches)Neurologic manifestations (seizures, subependymomas, retinal hamartomas)Cardiac abnormalities (rhabdomyoma, many congenital defects)PEComas, angiomyolipoma, lymphangioleiomyomatosis

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3
Q

Carney Complex - Mutation

A

PRKAR1A (chr 17) ; autosomal dominant

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4
Q

Carney Complex - Features

A

Mnemonic: NAME, LAMBNevi, Atrial myxoma, Myxoid neurofibroma, Ephelides Others: Pigmented nodular adrenal disease, psammomatous melanotic schwannomas

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5
Q

Ehlers-Danlos - Mutation

A

Heterogeneous mutations involving the synthesis and structure of collagen

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6
Q

Ehlers-Danlos - Variants

A

Classic (I, II) - Joint hypermobility, scarring, bruisingHypermobility (III) - Joint hypermobility onlyVascular (IV) - Arterial ruptures (poor prognosis)Others - Kyphoscoliotic, arthrochalasic, dermatosparaxic…probably not important

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7
Q

Marfan syndrome - Mutation

A

Fibrillin gene mutation (FBN1), autosomal dominant.

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8
Q

Marfan syndrome - Features

A

Aortic root dilation and dissection, mitral valve prolapse, rupturesComplete loss of elastic fibers in the luminal 1/3 of the tunica mediaEctopia Lentis - Classically SUPEROTEMPORAL

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9
Q

Carney-Stratakis syndrome - Mutation

A

SDHB gene hypermethylation

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10
Q

Carney-Stratakis syndrome - Features

A

GIST (epithelioid), pulmonary chondroma, paraganglioma

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11
Q

DICER1 syndrome - Features

A

Pleuropulmonary blastomaEmbryonal rhabdomyosarcomaOvarian sex-cord stromal tumors (Sertoli-leydig, granulosa cell, gynandroblastoma)Cystic nephromaMany others…

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12
Q

What tumor syndromes are associated with paraganglioma/pheochromocytoma?

A

MEN2SDH gene mutations (Carney-Stratakis)VHLNF1Sturge-Weber

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13
Q

MEN1 - Mutation

A

MEN1 (Menin) - AutDom

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14
Q

MEN1 - Features

A

Pituitary adenomaParathyroid hyperplasiaPancreatic endocrine neoplasm (eg, Gastrinoma&raquo_space; Zollinger-Ellison syndrome)

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15
Q

MEN2A - Mutation

A

RET - AutDom

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16
Q

MEN2A - Features

A

Medullary thyroid carcinomaParathyroid hyperplasiaPheochromocytoma

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17
Q

MEN2B - Features

A

Medullary thyroid carcinomaPheochromocytomaDiffuse GI ganglioneuromatosisMarfanoid body habitus

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18
Q

Neurofibromatosis type 1 - Mutation

A

Neurofibromin (chr 17) - AutDom(causes activation of RAS)

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19
Q

Neurofibromatosis type 1 - Features

A

Multiple neurofibromas (including plexiform)Optic nerve gliomasParagangliomas/pheochromocytomasSomatostatinoma, GIST, xanthogranulomaCafe au lait spots, lisch nodules

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20
Q

Neurofibromatosis type 2 - Mutation

A

Merlin (chr 22) - AutDom

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21
Q

Neurofibromatosis type 2 - Features

A

Bilateral acoustic schwannomasMeningiomas, neurofibromas, gliomasSpinal cord ependymomasCafe au lait spots but NO lisch nodules

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22
Q

Sturge Weber

A

Unknown cause (sporadic, not inherited)Port-wine stain (nevus flammeus) of trigeminal nerveLeptomeningeal angiomatosis&raquo_space; may affect cognitionPheochromocytoma

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23
Q

Von Hippel-Lindau - Mutation

A

VHL (chr 3) - AutDom

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24
Q

Von Hippel-Lindau - Features

A

Renal cell carcinomas (multiple, CCRCC)HemangioblastomasPheochromocytomasPancreatic endocrine neoplasmsPapillary cystadenoma of epididymisEndolymphatic sac tumor of the ear

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25
Birt-Hogg-Dube - Mutation
BHD (Folliculin, chr 17)
26
Birt-Hogg-Dube - Features
Renal tumors (many types, especially hybrid chromophobe-oncocytomas)Facial fibrofolliculomas and acrochordonsLung cysts
27
Beckwith-Wiedemann - Mutation
Paternal allelic duplication of ??? (Chr 11)
28
Beckwith-Wiedemann - Features
Overgrowth syndrome - Organomegaly, macroglossia, hemihypertrophyIncreased childhood neoplasias: Wilms tumor, hepatoblastoma, pancreatoblastoma, neuroblastoma
29
WAGR - Mutation
WT1 gene deletion (chr 11) - Not familial
30
WAGR - Features
Wilm's tumorAniridiaGenitourinary abnormalitiesRetardation
31
Denys-Drash - Mutations
WT1 point mutation (chr 11) - Not familial
32
Denys-Drash - Features
Wilms tumorGonadoblastomaDiffuse mesangial sclerosis
33
Hereditary papillary renal cell cancer (PRCC)
MET (chr 7) - AutDomCauses multiple bilateral type 1 PRCCs.
34
Hereditary leiomyoma and renal cell carcinoma (HLRCC)
Fumarate hydratase (chr 1) - AutoDomCauses type 2 PRCC with halo'd macronucleoli and cutaneous/uterine leiomyomas with eosinophilic inclusions and bizarre nuclei
35
McCune-Albright syndrome - Mutation
GNAS1 mosaicism (chr 20)
36
McCune-Albright syndrome - Features
Fibrous dysplasia (polyostotic)Cafe au lait spotsEndocrine abnormalities: Early puberty, thyrotoxicosis, gigantism, Cushing
37
Mazabraud's syndrome
GNAS1 activating mutation (chr 20)Fibrous dysplasia, soft tissue (intramuscular) myxomas
38
Ollier's disease
PTH1R mutations (chr 3)Multiple enchondromasIncreased risk of chondrosarcomas
39
Maffucci's syndrome
PTH1R mutations (chr 3)Multiple enchondromas, soft tissue hemangiomasIncreased risk of chondrosarcomas and angiosarcomas
40
FAP - Mutation
APC (chr 5) - AutDom
41
FAP - Features
Intestinal adenomas including small intestinal and periampullary. Fundic gland polyps. PTC (cribriform-morular variant)Juvenile nasopharyngeal angiofibromas
42
Gardner's syndrome - Features
All features of FAP, plus:Soft tissue fibromatosis (desmoid tumor), osteomas, "Gardner fibroma"Epidermoid cysts, pilomatrixomasSupernumerary and unerupted teeth
43
Turcot's syndrome - Mutation
Involves PMS2; variant of both FAP and HNPCC?
44
Turcot's syndrome - Features
Either medulloblastoma + FAP features,Or glioblastoma and HNPCC/Lynch features.
45
HNPCC - Mutation
hMLH1 = hMSH2 > hMSH6 > PMS5 = EPCAM
46
How can sporadic versus inherited HNPCC patterns be identified on IHC?
Most sporadic cases involve hypermethylation of MLH1. Absence of MSH2, MSH6, or PMS2 is nearly diagnostic of a germline mutation, whereas loss of MLH1 is most commonly sporadic (but requires further testing)
47
HNPCC - Features
Colorectal cancersEndometrial cancersOvary, stomach, pancreatobiliary...Urothelial carcinoma with inverted growth
48
Muir-Torre
HNPCC variant involving MSH2 and MLH1. Features of HNPCC plus sebaceous adenomas and keratoacanthomas
49
MYH-associated polyposis
MYH (mutation leads to mutations of APC)Manifests with attenuated FAP (polyps and extracolonic features)
50
Hereditary diffuse gastric cancer syndrome
CDH1 (E-cadherin) - AutDomDiffuse gastric cancer, lobular breast cancer
51
Peutz-Jeghers - Mutation
STK11 (chr 19) - AutDom
52
Peutz-Jeghers - Features
Peutz-Jeghers polyps (hamartomatous with arborizing smooth muscle)Adenoma malignumSCTATLarge cell calcifying sertoli cell tumorGI cancers (not arising from PJ polyps!)
53
Juvenile polyposis
Mutations in DPC4, BMPR1A, or PTENMultiple juvenile polyps involving colon or GI tract.
54
Ruval-Caba-Myhre-Smyth (Bannayan-Riley-Ruvalcaba)
PTEN (chr 10) - AutDomHamartomatous polyps (Peutz-Jegher-like), lipomas, hemangiomas
55
BRCA1 syndrome
Chr 17Breast cancer (especially medullary)Ovarian cancer (serous carcinomas and STIC)
56
BRCA2 syndrome
Chr 13Breast cancer, ovarian cancerAlso male breast cancer, prostate cancer, pancreatic cancer
57
Cowden's disease - Mutation
PTEN (chr 10) - AutDom
58
Cowden's disease - Features
Multiple neoplasms and hamartomas...Breast cancerFacial trichilemmomasMultiple thyroid follicular adenomasGI polyps, soft tissue tumors, many others...
59
Familial atypial multiple mole melanoma syndrome (FAMMM)
p16 (chr 9) - AutDom100+ nevi, atypical and dysplastic nevi, increased risk of melanoma and pancreatic adenocarcinoma
60
Gorlin's syndrome - Mutation
PTCH (chr 9) - AutDom
61
Gorlin's syndrome - Features
Basal cell carcinomasOKC of jawOvarian and cardiac fibromasMedulloblastomaMacrocephaly and other skeletal abnormalities
62
Retinoblastoma syndrome
RB (chr 13) - AutDomRetinoblastomas, pineoblastoma, osteosarcomas
63
What mutations are implicated in...Bloom syndromeFanconi anemia
Bloom syndrome - BLM helicaseFanconi anemia - Several candidate genes...
64
Ataxia-Telangiectasia
ATM (chr 11) - AutRecCerebellar ataxiaOculocutaneous telangiectasiasImmune dysfunctionSensitivity to ionizing radiation, markedly increased cancer susceptibility (heterozygotes affected)
65
Hyperparathyroidism-Jaw Tumor syndrome
Mutation of CDC73 (chr 1) - AutDomCauses multiple parathyroid adenoma/carcinoma, ossifying fibromas of jaw, renal cysts, and hamartomas.

UChicago High Yield Board Review (8 decks)

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