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Familial Tumor Syndromes Flashcards

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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
25
SUFU protein function.
Regulate Sonic Hedgehog signaling pathway
26
PTEN protein function.
Phosphatase that Negatively regulates PI3K-mTor signaling pathway
27
p53 protein function.
Transcriptional regulator of cell cycle progression, DNA damage repair, and survival
28
PRKAR1A protein function.
Regulates cAMP signaling
29
BRG1 protein function.
Subunit of Swi/Snf chromatic remodeling complex
30
DICER1 protein function.
Controls microRNA processing
31
Menin protein function.
Regulation of multiple singnaling proteins including c-Jun
32
Melanoma-Astrocytoma syndrome: -Gene -Protein -CNS manifestion (4) -Cutaneous manifestation -Other
-CDKN2A (9p21) -p16(INK4a) -Astrocytomas, Pleomorphic Xanthoastrocytoma, Nerve sheath tumors, Meningioma -Dysplastic Nevi/Melanoma -Pancreatic adenocarcinoma
33
p16(INK4a) protein function.
Negative regulator of kinases CDK4/6 governing cell cycle progression
34
Noonan Syndrome: -Gene -Protein -CNS manifestion (3) -Cutaneous manifestation -Other
-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
Shp2 protein function.
Regulates Ras-Raf-MAPK signaling pathway
36
L-2-Hydroxyglutaric Aciduria: -Gene -Protein -CNS manifestion () -Cutaneous manifestation -Other
-L2HGDH (14q21) -L-2-Hydroxyglutarate Dehydrogenase -Gliomas, Macrocephaly, Subcortical leukoencephalopathy, Cerebellar and Brainstem Atrophy -NONE -NONE
37
Retinoblastoma: -Gene -Protein -CNS manifestion (1) -Cutaneous manifestation -Other
-RB1 (13q14) -pRB -Pineoblastoma -NONE -Retinoblastomas, Osteosarcomas, Secondary Radiation-Induced malignancy
38
L-2-Hydroxyglutarate Dehydrogenase function.
Metabolic enzyme regulating by-products of Kreb cycle
39
pRB protein function.
Transcriptional co-repressor governing cell cycle progression
40
Fanconi Anemia: -Gene -Protein -CNS manifestion (1) -Cutaneous manifestation -Other
-BRCA2 (13q13) & PALB2 (16p12) -BRCA2 & PALB2 -Medulloblastoma -NONE -Numerous congenital anomalies, bone marrow failure, MDS, AML, Wilms tumor
41
BRCA2 protein function:
Homologous recombination of DNA double-strand breaks
42
PALB2 protein function.
Homologous recombination of DNA double-strand breaks
43
BAP1 Tumor Predisposition Syndrome: -Gene -Protein -CNS manifestion (1) -Cutaneous manifestation -Other
-BAP1 (3q21) -BAP1 -Rhabdoid Meningioma -BCC & Melanocytic neoplasms -Mesothelioma, Uveal melanoma, CC-RCC
44
BAP1 protein function.
Deubiquitinase and epigenetic regulator
45
Familial Clear Cell Meningioma Syndrome: -Gene -Protein -CNS manifestion (1) -Cutaneous manifestation -Other
-SMARCE1 (17q21) -BAF57 -Clear Cell Meningioma -NONE -NONE
46
BAF57 protein function.
Subunit of Swi/Snf chromatin remodeling complex
47
Enchondromatosis (Olier Disease, Maffucci Syndrome): -Gene -Protein -CNS manifestion (1) -Cutaneous manifestation -Other
-IDH1 (2q34) -Isocitrate dehydrogenase-1 -Diffuse Gliomas (IDH-mutant) -Hemangiomas (spinde cell) -Enchondromas, Chondrosarcomas, Juvenile Granulosa Cell Tumor of Ovary and Visceral Hemangiomas
48
Isocitrate Dehydrogenase-1 function.
Metabolic enzyme of Kreb cycle
49
Sturge-Weber Syndrome: -Gene -Protein -CNS manifestion (1) -Cutaneous manifestation -Other
-GNAQ (9q21) -Gq(alpha) -Meningeal angiomatosis -Port-wine stain ("nevus flammeus") -Glaucoma
50
Gq(alpha) protein function.
Regulates cAMP signaling
51
McCune-Albright Syndrome: -Gene -Protein -CNS manifestion (1) -Cutaneous manifestation -Other
-GNAS (20q13) -Gs(alpha) -Somatotrophic pituitary adenoma -Cafe-au-lait macules -Polystotic fibrous dysplasia, Sexual precocity, Endocrine gland hyperplasia, Intramuscular Myxomas
52
Most of the familial tumor or "cancer predisposition" syndromes are Autosomal ___________ inheritance; with the majority resulting frommmmmmmm Inactivation of ______ ________ ______.
-Autosomal Dominant -Inactivation of Tumor Suppressor genes
53
Which of the Familial Tumor Syndrome are Autosomal Recessive inheritance? (3)
-Turcot Syndrome type 1 (Constitutional mismatch repair deficiency) -Fanconi Anemia -L-2-Hydroxyglutaric Aciduria
54
Which of the Familial Tumor Syndrome are Sporadic inheritance? (3)
-Sturge-Weber -McCune-Albright -Enchondromatosis
55
Schwannomas encountered in NF2 and Schwannomatosis both show a distinctive mosaic pattern of expression of what IHC antibody?
INI-1 (partial loss) *Nonsyndromic Schwannomas typically show retained/Intact expression of INI-1
56
56
PTEN protein function.
Phosphatase that Negatively regulates PI3K-mTor signaling pathway
56
BRG1 protein function.
Subunit of Swi/Snf chromatic remodeling complex
56
L-2-Hydroxyglutarate Dehydrogenase function.
Metabolic enzyme regulating by-products of Kreb cycle
56
SUFU protein function.
Regulate Sonic Hedgehog signaling pathway
56
PRKAR1A protein function.
Regulates cAMP signaling
56
p53 protein function.
Transcriptional regulator of cell cycle progression, DNA damage repair, and survival
56
DICER1 protein function.
Controls microRNA processing
57
PTEN protein function.
Phosphatase that Negatively regulates PI3K-mTor signaling pathway
57
DICER1 protein function.
Controls microRNA processing
57
p53 protein function.
Transcriptional regulator of cell cycle progression, DNA damage repair, and survival
57
BRG1 protein function.
Subunit of Swi/Snf chromatic remodeling complex
57
L-2-Hydroxyglutarate Dehydrogenase function.
Metabolic enzyme regulating by-products of Kreb cycle
57
SUFU protein function.
Regulate Sonic Hedgehog signaling pathway
57
58
PRKAR1A protein function.
Regulates cAMP signaling

Development/Syndromes (1 decks)

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