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Development/Syndromes > Familial Tumor Syndromes > Flashcards

Familial Tumor Syndromes Flashcards

1
Q

Neurofibromatosis type 1 (NF1):
-Gene
-Protein
-CNS manifestions (4)
-Cutaneous manifestations

*von Recklinghausen disease/Peripheral NF

A

-NF1 (17q11)
-Neurofibromin
-Neurofibromas, MPNST, Optic nerve glioma, Pilocytic & Diffuse Astrocytomas
-Cafe-au-lait macules, axillary and inguinal freckles

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2
Q

Neurofibromin function

A

Suppressor of Ras signaling

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3
Q

Neurofibromatosis type 2 (NF2):
-Gene
-Protein
-CNS manifestions (5)
-Cutaneous manifestations

A

-NF2 (22q12)
-Merlin
-Schwannomas (vestibular b/l; nonvestibular), Meningiomas/angiomatosis, Ependymoma (spinal), glial microhamartomas, cerebral calcifications
-Cafe-au-lait (RARE)

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4
Q

Merlin function

A

Mediates signaling between cell membrane and actin cytoskeleton

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5
Q

Schwannomatosis:
-Gene (2)
-Protein (2)
-CNS manifestions
-Cutaneous manifestations

A

-SMARCB1 & LZTR1 (22q11)
-INI1/SNF5/BAF47 & LZTR1
-Schwannomas (nonvestibular), Meningiomas
-None

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6
Q

INI1/SNF5/BAF47 function.

A

Subunit of Swi/Snf chromatic remodeling complex

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7
Q

LZTR1 function.

A

Golgi associated protein of unknown function

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8
Q

Tuberous Sclerosis:
-Gene (2)
-Protein (2)
-CNS manifestions (4)
-Cutaneous manifestations (4)

A

-TSC1 (9q34) & TSC2 (16q13)
-Hamartin (TSC1) & Tuberin (TSC2)
-Cortical hamartomas (tubers), Subependymal nodules, SEGA, radial glioneuronal heterotopias
-Facial angiofibromas (“adenoma sebaceum”), hypomelanotic macules, Shagreen patches, subungal fibromas

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9
Q

Hamartin function.

A

Complexes with tuberin to regulate PI3K-mTor signaling

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10
Q

Tuberin function.

A

Complexes with hamartin to regulate PI3K-mTor signaling

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11
Q

Von Hippel-Lindau disease:
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestations
-Other

A

-VHL (3p25)
-VHL
-Hemangioblastomas
-NONE; CC-RCC, Pheochromocytoma, pancreatic serous cystadenoma, endolymphatic sac tumor of inner ear, papillary cystadenoma of epididymis and broad ligament

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12
Q

VHL protein function.

A

Regulates HIF-1, VEGF, and EPO

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13
Q

Turcot Syndrome Type 1 (Constitutional MMR Deficiency):
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-MLH1, MSH2, MSH5, PMS2
-DNA mismatch repair enzymes
-Glioblastomas (ultramutated)
-Cafe-au-lait macules
-T-cell lymphoma, TAs and colorectal Ca

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14
Q

Turcot Syndrome Type 2 (FAP type 1):
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-APC (5q21)
-APC protein
-Medulloblastoma (WNT-activated)
-EICs
-TAs, Desmoid-type fibromatosis, lipomas, osteomas, thyroid cancer, hepatoblastomas

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15
Q

APC protein function.

A

Regulates WNT pathway signaling

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16
Q

Lynch Syndrome (Muir-Torre syndrome):
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-MLH1, MSH2, MLH6, PMS2
-DNA mismatch repair enzymes
-Glioblastoma (hypermutated)
-Sebaceous adenomas/carcinomas
-Colorectal Ca, Endometrial Ca, Urothelial Ca, Gastric Ca, Hepatobiliary Ca

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17
Q

Nevoid Basal Cell Carcinoma Syndrome (Gorlin syndrome):
-Gene (2)
-Protein (2)
-CNS manifestion (3)
-Cutaneous manifestation
-Other

A

-PTCH1 (9q31) & SUFU (10q24)
-Patched-1 & SUFU
-Medulloblastoma (SHH-activated). Calcification of Falx Cerebri, Meningiomas
-BCC, palmar/plantar pits
-Odontogenic keratocysts, Fibromas (cardiac & ovarian), Skeletal abnormalities

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18
Q

Patched-1 protein function.

A

Regulate Sonic Hedgehog signaling pathway

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19
Q

Cowden Syndrome:
-Gene
-Protein
-CNS manifestion (3)
-Cutaneous manifestation
-Other

A

-PTEN (10q23)
-PTEN
-Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), Megalencephaly, Ganglioneuromas
-Trichilemmomas, Acral Keratoses
-Breast Ca. Endometrial Ca, Lipomas, Thyroid Ca (follicular), Hamartomatous intestinal polyps

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20
Q

Li-Fraumeni Syndrome:
-Gene
-Protein
-CNS manifestion (3)
-Cutaneous manifestation
-Other

A

-TP53
-p53
-Glioblastoma, Medulloblastoma, Choroid Plexus carcinoma
-NONE
-Breast, Bone & ST, Wilms tumor, Leukemia, Adrenocortical carcinoma

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21
Q

Carney Complex (LAMB/NAME syndrome):
-Gene
-Protein
-CNS manifestion (2)
-Cutaneous manifestation
-Other

A

-PRKAR1A (17q24)
-PRKAR1A
-Melanotic Schwannoma (psammomatous), Somatotrophic pituitary adenoma
-Lentigines, Myxomas, Blue Nevi
-Cardiac myxoma, Brease Adenoma & Fibromyxoma, Thyroid Ca, Large cell calcifying Sertoli cell tumor, Pigmented nodular adrenocortical dysplasia

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22
Q

Rhabdoid Tumor Predisposition Syndrome:
-Gene (2)
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-SMARCB1 (22q11) & SMARCA4 (19p13)
-INI1/SNF5/BAF47 & BRG1
-Atypical Teratoid/Rhabdoid Tumor (AT/RT)
-NONE
-Malignant Rhaboid tumor (predominantly Renal), small cell carcinoma of the ovary of hypercalcemic type

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23
Q

DICER1 Syndrome:
-Gene
-Protein
-CNS manifestion ()
-Cutaneous manifestation
-Other

A

-DICER1 (14q32)
-DICER1
-Pineoblastoma, Pituitary blastoma
-NONE
-Pleuropulmnary blastoma, cystic nephroma, goiter, embryonal rhabdomyosarcoma, Wilms tumor, intraocular medulloepithilioma

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24
Q

Muliple Endocrine Neoplasia type 1 (MEN 1; Wermer Syndrome):
-Gene
-Protein
-CNS manifestion (2)
-Cutaneous manifestation (3)
-Other

A

-MEN1 (11q13)
-Menin
-Pituitary adenoma & Ependymoma
-Lipomas (nodular), Collagenomas, Facial angiofibromas
-Parathryoid adenomas, Pancreatic NE tumors, Carcinoids (bronchial, duodunal, thymic), adrenocortical adenomas, gastric enterochromaffin-like adenomas

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24
Q
A
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25
Q

SUFU protein function.

A

Regulate Sonic Hedgehog signaling pathway

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26
Q

PTEN protein function.

A

Phosphatase that Negatively regulates PI3K-mTor signaling pathway

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27
Q

p53 protein function.

A

Transcriptional regulator of cell cycle progression, DNA damage repair, and survival

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28
Q

PRKAR1A protein function.

A

Regulates cAMP signaling

29
Q

BRG1 protein function.

A

Subunit of Swi/Snf chromatic remodeling complex

30
Q

DICER1 protein function.

A

Controls microRNA processing

31
Q

Menin protein function.

A

Regulation of multiple singnaling proteins including c-Jun

32
Q

Melanoma-Astrocytoma syndrome:
-Gene
-Protein
-CNS manifestion (4)
-Cutaneous manifestation
-Other

A

-CDKN2A (9p21)
-p16(INK4a)
-Astrocytomas, Pleomorphic Xanthoastrocytoma, Nerve sheath tumors, Meningioma
-Dysplastic Nevi/Melanoma
-Pancreatic adenocarcinoma

33
Q

p16(INK4a) protein function.

A

Negative regulator of kinases CDK4/6 governing cell cycle progression

34
Q

Noonan Syndrome:
-Gene
-Protein
-CNS manifestion (3)
-Cutaneous manifestation
-Other

A

-PTPN11 (12q24)
-Shp2
-Pilocytic astrocytoma, Rosette-Forming Glioneuronal Tumor, Pilomyxoid astrocytoma
-NONE
-Short stature and facial dysmorphism, cardiac defects, myelomonocytic leukemia, Granular cell tumors, Giant cell lesions of small bones

35
Q

Shp2 protein function.

A

Regulates Ras-Raf-MAPK signaling pathway

36
Q

L-2-Hydroxyglutaric Aciduria:
-Gene
-Protein
-CNS manifestion ()
-Cutaneous manifestation
-Other

A

-L2HGDH (14q21)
-L-2-Hydroxyglutarate Dehydrogenase
-Gliomas, Macrocephaly, Subcortical leukoencephalopathy, Cerebellar and Brainstem Atrophy
-NONE
-NONE

37
Q

Retinoblastoma:
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-RB1 (13q14)
-pRB
-Pineoblastoma
-NONE
-Retinoblastomas, Osteosarcomas, Secondary Radiation-Induced malignancy

38
Q

L-2-Hydroxyglutarate Dehydrogenase function.

A

Metabolic enzyme regulating by-products of Kreb cycle

39
Q

pRB protein function.

A

Transcriptional co-repressor governing cell cycle progression

40
Q

Fanconi Anemia:
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-BRCA2 (13q13) & PALB2 (16p12)
-BRCA2 & PALB2
-Medulloblastoma
-NONE
-Numerous congenital anomalies, bone marrow failure, MDS, AML, Wilms tumor

41
Q

BRCA2 protein function:

A

Homologous recombination of DNA double-strand breaks

42
Q

PALB2 protein function.

A

Homologous recombination of DNA double-strand breaks

43
Q

BAP1 Tumor Predisposition Syndrome:
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-BAP1 (3q21)
-BAP1
-Rhabdoid Meningioma
-BCC & Melanocytic neoplasms
-Mesothelioma, Uveal melanoma, CC-RCC

44
Q

BAP1 protein function.

A

Deubiquitinase and epigenetic regulator

45
Q

Familial Clear Cell Meningioma Syndrome:
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-SMARCE1 (17q21)
-BAF57
-Clear Cell Meningioma
-NONE
-NONE

46
Q

BAF57 protein function.

A

Subunit of Swi/Snf chromatin remodeling complex

47
Q

Enchondromatosis (Olier Disease, Maffucci Syndrome):
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-IDH1 (2q34)
-Isocitrate dehydrogenase-1
-Diffuse Gliomas (IDH-mutant)
-Hemangiomas (spinde cell)
-Enchondromas, Chondrosarcomas, Juvenile Granulosa Cell Tumor of Ovary and Visceral Hemangiomas

48
Q

Isocitrate Dehydrogenase-1 function.

A

Metabolic enzyme of Kreb cycle

49
Q

Sturge-Weber Syndrome:
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-GNAQ (9q21)
-Gq(alpha)
-Meningeal angiomatosis
-Port-wine stain (“nevus flammeus”)
-Glaucoma

50
Q

Gq(alpha) protein function.

A

Regulates cAMP signaling

51
Q

McCune-Albright Syndrome:
-Gene
-Protein
-CNS manifestion (1)
-Cutaneous manifestation
-Other

A

-GNAS (20q13)
-Gs(alpha)
-Somatotrophic pituitary adenoma
-Cafe-au-lait macules
-Polystotic fibrous dysplasia, Sexual precocity, Endocrine gland hyperplasia, Intramuscular Myxomas

52
Q

Most of the familial tumor or “cancer predisposition” syndromes are Autosomal ___________ inheritance; with the majority resulting frommmmmmmm Inactivation of ______ ________ ______.

A

-Autosomal Dominant
-Inactivation of Tumor Suppressor genes

53
Q

Which of the Familial Tumor Syndrome are Autosomal Recessive inheritance? (3)

A

-Turcot Syndrome type 1 (Constitutional mismatch repair deficiency)
-Fanconi Anemia
-L-2-Hydroxyglutaric Aciduria

54
Q

Which of the Familial Tumor Syndrome are Sporadic inheritance? (3)

A

-Sturge-Weber
-McCune-Albright
-Enchondromatosis

55
Q

Schwannomas encountered in NF2 and Schwannomatosis both show a distinctive mosaic pattern of expression of what IHC antibody?

A

INI-1 (partial loss)

*Nonsyndromic Schwannomas typically show retained/Intact expression of INI-1

56
Q
A
56
Q

PTEN protein function.

A

Phosphatase that Negatively regulates PI3K-mTor signaling pathway

56
Q

BRG1 protein function.

A

Subunit of Swi/Snf chromatic remodeling complex

56
Q

L-2-Hydroxyglutarate Dehydrogenase function.

A

Metabolic enzyme regulating by-products of Kreb cycle

56
Q

SUFU protein function.

A

Regulate Sonic Hedgehog signaling pathway

56
Q

PRKAR1A protein function.

A

Regulates cAMP signaling

56
Q

p53 protein function.

A

Transcriptional regulator of cell cycle progression, DNA damage repair, and survival

56
Q

DICER1 protein function.

A

Controls microRNA processing

57
Q

PTEN protein function.

A

Phosphatase that Negatively regulates PI3K-mTor signaling pathway

57
Q

DICER1 protein function.

A

Controls microRNA processing

57
Q

p53 protein function.

A

Transcriptional regulator of cell cycle progression, DNA damage repair, and survival

57
Q

BRG1 protein function.

A

Subunit of Swi/Snf chromatic remodeling complex

57
Q

L-2-Hydroxyglutarate Dehydrogenase function.

A

Metabolic enzyme regulating by-products of Kreb cycle

57
Q

SUFU protein function.

A

Regulate Sonic Hedgehog signaling pathway

57
Q
A
58
Q

PRKAR1A protein function.

A

Regulates cAMP signaling

Development/Syndromes (1 decks)

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