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RC > Syndromes > Flashcards

Syndromes Flashcards

1
Q

MEN1

A

Gene: MEN1
Features: 3Ps - pit adenoma, parathyroid hyperplasia, pancreatic/duodenal NETs

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2
Q

MEN2A

A

Gene: RET
Features: 1M 2Ps - Medullary thyroid CA, Parathyroid hyperplasia, pheo

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3
Q

MEN2B

A

Gene: RET
Features: 2M 1P - Medullary thyroid CA, Marfanoid habitus, pheo, diffuse ganglioneuromatosis of GI tract

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4
Q

MEN4

A

Gene: CDKN1B
Features: same as MEN1

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5
Q

NF1

A

Gene: NF1 (neurofibromin)
Features: Multiple neurofibromas, optic nerve pilocytic astro, GIST, cafe-au-lait spots, lisch nodules

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6
Q

NF2

A

Gene: NF2 (merlin)
Features: Bilateral acoustic schwannomas, meningiomas, ependymomas, cafe-au-lait spots but NO lisch nodules

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7
Q

Tuberous Sclerosis

A

Gene: TSC1 (hamartin), TSC2 (tuberin)
Features: PEComas (renal angiomyolipoma, pulmonary lymphangiomeiomyomatosis, clear cell sugar tumor of lung etc), cardiac rhabdomyoma, cortical tubers, supependymal giant cell astrocytoma, cutaneous angiofibromas, eosinophilic solid and cystic RCC

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8
Q

Sturge-Weber

A

Gene: GNAQ
Features: Port-wine stain in trigeminal nerve distribution, Angiomatosis of leptomeninges, pheo, choroidal hemangioma

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9
Q

VHL

A

Gene: VHL (pVHL)
Features: CCRCC, cysts (kidney, pancreas, liver), hemangioblastomas, pheo, papillary cystadenoma of epididymis/broad ligament, endolymphatic sac tumor of ear

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10
Q

Birt-Hogg-Dube

A

Gene: BHD (folliculin)
Features: RCC, oncocytoma, hybrid oncocytic tumor (highly specific), facial fibrofolliculomas, pulmonary cysts with spontaneous pneumothorax

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11
Q

Beckwith-Wiedeman

A

Gene: Duplication of paternal allele 11p15
Features: Overgrowth of organs, tongue, childhood neoplasia (nephroblastoma, pancreatoblastoma, hepatoblastoma, neuroblastoma)

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12
Q

WAGR

A

Gene: Deletion of WT1
Features: Wilms tumor, aniridia, GU abnormalities, mental retardation

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13
Q

Denys-Drash

A

Gene: WT1 point mutation
Features: Wilms tumor, gonadoblastoma, diffuse mesangial sclerosis

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14
Q

Hereditary papillary renal cell cancer

A

Gene: MET
Features: Multiple bilateral papillary RCC

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15
Q

Hereditary leiomyomatosis and renal cell carcinoma

A

Gene: FH/fumarate hydratase
Features: RCCs and leiomyomas (cutaneous and uterine) with notable nuclear abnormalities

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16
Q

Succinate dehydrogenase-deficient RCC

A

Gene: SDHB&raquo_space; SDHC» SDHD > SDHA
Features: RCCs with notable features, pheo/paraganglioma, GIST

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17
Q

McCune-Albright

A

Gene: Mosaicism in GNAS1
Features: Fibrous dysplasia (polyostatic), cafe-au-lait spots, endocrine abnormalities

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18
Q

Mazabrand syndrome

A

Gene: Activating GNAS1
Features: Fibrous dysplasia, soft tissue myxoma

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19
Q

Ollier disease

A

Gene: IDH1/2
Features: Enchondromatosis, increased risk of chondrosarc

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20
Q

Maffucci syndrome

A

Gene: IDH1/2
Features: Enchondromatosis, soft tissue hemangiomas, increased risk of chondrosarc and angiosarc

21
Q

FAP

A

Gene: APC
Features: Colonic polyposis and carcinoma, small intestine (particularly duodenum and periampullary) polyps, periampullary adenoCA, fundic gland polyps (esp with dysplasia), cribriform-morular variant PTC, nasal angiofibromas

22
Q

Gardner syndrome

A

Gene: APC
Features: FAP features PLUS fibromatosis, osteomas, nuchal fibromas, epidermoid cysts, pilomatricomas, unerupted and supernumerary teeth, CHRPE (congenital hypertrophy of the retinal pigment epithelium)

23
Q

Turcot syndrome

A

Gene: APMS2
Features: FAP features PLUS Medulloblastoma
OR
glioblastoma and Lynch syndrome tumors

24
Q

Hereditary nonpolyposis colorectal cancer/Lynch syndrome

A

Gene: MLH1, MSH2, MSH6, PMS2, EPCAM
Features: Colorectal CA, endometrial CA, ovarian CA, gastric, pancreatobiliary, urothelial CA of upper urinary tract, small bowel, brain, sebaceous neoplasms

25
Q

Muir-Torre

A

Gene: MSH2
Features: Lynch tumors, sebaceous neoplasms, keratoacanthoma

26
Q

MYH-associated polyposis

A

Gene: MYH
Features: Attenuated FAP but AR inheritance pattern

27
Q

Hereditary diffuse gastric cancer syndrome

A

Gene: CDH1 (E-cadherin)
Features: gastric signet ring cell CA, lobular breast CA

28
Q

Peutz-Jeghers syndrome

A

Gene: STK11
Features: hamartomatous GI polyps (small bowel&raquo_space; stomach, colon), colorectal CA, pancreatic CA, gastric CA, small bowel CA,, cervical minimal deviation adenocarcinoma, sex cord tumor with annual tubules (SCTAT), large cell calcifying Sertoli cell tumor, Breast CA, lung CA

29
Q

Juvenile Polyposis

A

Gene: SMAD4
Features: Juvenile polyp involving colon or entire GI tract. Associated CRC risk

30
Q

Cronkhite-Canada

A

Gene: Unknown, not familial
Features: Stomach, small bowel, colon hyperplastic-type polyps. Minimally increased CRC risk
Alopecia, cutaneous macular hyperpigmentation

31
Q

Hereditary Breast and Ovarian Cancer

A

Gene: BRCA1
Features: Breast cancer (esp medullary, triple neg), serous ovarian carcinoma

Gene: BRCA2
Features: Breast CA (Luminal type), ovarian CA, male breast CA, prostate CA, pancreatic

32
Q

Cowden Disease

A

Gene: PTEN
Features: Breast CA. trichilemmomas, hamartomatous/hyperplasia/adenomatous/inflammatory GI polyps, hemangiomas, lymphangiomas, thyroid, RCC, Merkle, melanoma

33
Q

Familial atypical multiple mole melanoma syndrome

A

Gene: CDKN2A
Features: dysplasia nevi, melanoma, pancreatic adenocarcinoma

34
Q

Gorlin syndrome

A

Gene: PTCH1
Features: BCCs, OKCs, bilateral ovarian fibroma, medulloblastoma, congenital malformations

35
Q

Xeroderma Pigmentosa

A

Gene: XP family
Features: BCC, SCC, keratoacanthoma, melanoma, progressive neurologic deterioration

36
Q

Mahvash disease

A

Gene: GCGR - autosomal recessive inheritance
Features: pancreatic islet glucagon cell hyperplasia, micro and macroglucagonomas

37
Q

Hyperparathyroidism-jaw tumor syndrome

A

Gene: CDC73
Features: Parathyroid carcinoma, ossifying fibromas of jaw

38
Q

Carney-Stratakis syndrome

A

Gene: SDHB&raquo_space; SDHC» SDHD > SDHA
Features: pheo/paraganaglioma, GISTs (esp epithelioid), SDH-deficient RCC, PitNET

39
Q

Carney triad

A

Gene: SDHC promoter hypermethylation
Features: pheo/paraganglioma, GIST (esp epithelioid), pulmonary chondroma

40
Q

Li-Fraumeni

A

Gene: TP53 (p53)
Features: Sarcomas, carcinoma (breast, colon, pancreas, adrenal), leukemia, melanoma, glioma

41
Q

Ataxia-Telangiectasia

A

Gene: ATM - autosomal recessive inheritance
Features: leukemias/lymphomas, carcinomas (breast, gastric, liver), variable immunodeficiency

42
Q

Bloom syndrome

A

Gene: BLM - autosomal recessive
Features: wide range of malignancy esp leukemias

43
Q

Fanconi anemia

A

Gene: unspecified
Features: Leukemias, HCC, BM hypoplasia

44
Q

Carney Complex

A

Gene: PRKAR1A
Features: Myxomas, pigmented and calcifying lesions (blue nevus, pigmented nodular adrenocortical hyperplasia, psammomatous melanotic schwannoma), endocrine hyperactivity

45
Q

Retinoblastoma

A

Gene: RB1
Features: Bilateral retinoblastoma, pineoblastoma, osteosarcoma

46
Q

Hereditary hemorrhagic telangiectasia

A

Gene: ACVRL
Features: Aneurysmal telangiectasia of multiple organs complicated by bleeding

47
Q

DICER1 syndrome

A

Gene: DICER1
Features: Pleuropulmonary blastoma, cystic nephroma, sertoli-leydig cell tumor of ovary, chondromesenchymal hamartoma

48
Q

BAP1 hereditary cancer predisposition syndrom

A

Gene: BAP1
Features: Uveal and cutaneous melanoma, BAP-1 associated nevi, mesothelioma, CCRCC

49
Q

Rhabdoid tumor predisposition syndrome

A

Gene: SMARCB1
Features: Malignant rhabdoid tumor (renal and extrarenal), ATRT, SCCOHT

RC (20 decks)

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