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UChicago High Yield Board Review > Tumor syndromes > Flashcards

Tumor syndromes Flashcards

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
Q

Birt-Hogg-Dube - Mutation

A

BHD (Folliculin, chr 17)

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26
Q

Birt-Hogg-Dube - Features

A

Renal tumors (many types, especially hybrid chromophobe-oncocytomas)Facial fibrofolliculomas and acrochordonsLung cysts

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27
Q

Beckwith-Wiedemann - Mutation

A

Paternal allelic duplication of ??? (Chr 11)

28
Q

Beckwith-Wiedemann - Features

A

Overgrowth syndrome - Organomegaly, macroglossia, hemihypertrophyIncreased childhood neoplasias: Wilms tumor, hepatoblastoma, pancreatoblastoma, neuroblastoma

29
Q

WAGR - Mutation

A

WT1 gene deletion (chr 11) - Not familial

30
Q

WAGR - Features

A

Wilm’s tumorAniridiaGenitourinary abnormalitiesRetardation

31
Q

Denys-Drash - Mutations

A

WT1 point mutation (chr 11) - Not familial

32
Q

Denys-Drash - Features

A

Wilms tumorGonadoblastomaDiffuse mesangial sclerosis

33
Q

Hereditary papillary renal cell cancer (PRCC)

A

MET (chr 7) - AutDomCauses multiple bilateral type 1 PRCCs.

34
Q

Hereditary leiomyoma and renal cell carcinoma (HLRCC)

A

Fumarate hydratase (chr 1) - AutoDomCauses type 2 PRCC with halo’d macronucleoli and cutaneous/uterine leiomyomas with eosinophilic inclusions and bizarre nuclei

35
Q

McCune-Albright syndrome - Mutation

A

GNAS1 mosaicism (chr 20)

36
Q

McCune-Albright syndrome - Features

A

Fibrous dysplasia (polyostotic)Cafe au lait spotsEndocrine abnormalities: Early puberty, thyrotoxicosis, gigantism, Cushing

37
Q

Mazabraud’s syndrome

A

GNAS1 activating mutation (chr 20)Fibrous dysplasia, soft tissue (intramuscular) myxomas

38
Q

Ollier’s disease

A

PTH1R mutations (chr 3)Multiple enchondromasIncreased risk of chondrosarcomas

39
Q

Maffucci’s syndrome

A

PTH1R mutations (chr 3)Multiple enchondromas, soft tissue hemangiomasIncreased risk of chondrosarcomas and angiosarcomas

40
Q

FAP - Mutation

A

APC (chr 5) - AutDom

41
Q

FAP - Features

A

Intestinal adenomas including small intestinal and periampullary. Fundic gland polyps. PTC (cribriform-morular variant)Juvenile nasopharyngeal angiofibromas

42
Q

Gardner’s syndrome - Features

A

All features of FAP, plus:Soft tissue fibromatosis (desmoid tumor), osteomas, “Gardner fibroma”Epidermoid cysts, pilomatrixomasSupernumerary and unerupted teeth

43
Q

Turcot’s syndrome - Mutation

A

Involves PMS2; variant of both FAP and HNPCC?

44
Q

Turcot’s syndrome - Features

A

Either medulloblastoma + FAP features,Or glioblastoma and HNPCC/Lynch features.

45
Q

HNPCC - Mutation

A

hMLH1 = hMSH2 > hMSH6 > PMS5 = EPCAM

46
Q

How can sporadic versus inherited HNPCC patterns be identified on IHC?

A

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
Q

HNPCC - Features

A

Colorectal cancersEndometrial cancersOvary, stomach, pancreatobiliary…Urothelial carcinoma with inverted growth

48
Q

Muir-Torre

A

HNPCC variant involving MSH2 and MLH1. Features of HNPCC plus sebaceous adenomas and keratoacanthomas

49
Q

MYH-associated polyposis

A

MYH (mutation leads to mutations of APC)Manifests with attenuated FAP (polyps and extracolonic features)

50
Q

Hereditary diffuse gastric cancer syndrome

A

CDH1 (E-cadherin) - AutDomDiffuse gastric cancer, lobular breast cancer

51
Q

Peutz-Jeghers - Mutation

A

STK11 (chr 19) - AutDom

52
Q

Peutz-Jeghers - Features

A

Peutz-Jeghers polyps (hamartomatous with arborizing smooth muscle)Adenoma malignumSCTATLarge cell calcifying sertoli cell tumorGI cancers (not arising from PJ polyps!)

53
Q

Juvenile polyposis

A

Mutations in DPC4, BMPR1A, or PTENMultiple juvenile polyps involving colon or GI tract.

54
Q

Ruval-Caba-Myhre-Smyth (Bannayan-Riley-Ruvalcaba)

A

PTEN (chr 10) - AutDomHamartomatous polyps (Peutz-Jegher-like), lipomas, hemangiomas

55
Q

BRCA1 syndrome

A

Chr 17Breast cancer (especially medullary)Ovarian cancer (serous carcinomas and STIC)

56
Q

BRCA2 syndrome

A

Chr 13Breast cancer, ovarian cancerAlso male breast cancer, prostate cancer, pancreatic cancer

57
Q

Cowden’s disease - Mutation

A

PTEN (chr 10) - AutDom

58
Q

Cowden’s disease - Features

A

Multiple neoplasms and hamartomas…Breast cancerFacial trichilemmomasMultiple thyroid follicular adenomasGI polyps, soft tissue tumors, many others…

59
Q

Familial atypial multiple mole melanoma syndrome (FAMMM)

A

p16 (chr 9) - AutDom100+ nevi, atypical and dysplastic nevi, increased risk of melanoma and pancreatic adenocarcinoma

60
Q

Gorlin’s syndrome - Mutation

A

PTCH (chr 9) - AutDom

61
Q

Gorlin’s syndrome - Features

A

Basal cell carcinomasOKC of jawOvarian and cardiac fibromasMedulloblastomaMacrocephaly and other skeletal abnormalities

62
Q

Retinoblastoma syndrome

A

RB (chr 13) - AutDomRetinoblastomas, pineoblastoma, osteosarcomas

63
Q

What mutations are implicated in…Bloom syndromeFanconi anemia

A

Bloom syndrome - BLM helicaseFanconi anemia - Several candidate genes…

64
Q

Ataxia-Telangiectasia

A

ATM (chr 11) - AutRecCerebellar ataxiaOculocutaneous telangiectasiasImmune dysfunctionSensitivity to ionizing radiation, markedly increased cancer susceptibility (heterozygotes affected)

65
Q

Hyperparathyroidism-Jaw Tumor syndrome

A

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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