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Boards.CP.Molecular > Lung,Gyn,TumorSyndromes > Flashcards

Lung,Gyn,TumorSyndromes Flashcards

1
Q

What 3 genes are frequently mutated in Lung Adenocarcinoma (all mutually exclusive from one another)?

A
  • EGFR
  • KRAS
  • Alk
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2
Q

Lung adenoca - EGFR mutations:

  • Exons
  • Protein
  • Population (2)
A
  • Exons 18-21
  • Tyrosine Kinase domain
  • Young Asians/Non-smokers
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3
Q

Lung adenoca - EGFR mutations (Exons 18-21):

  • What do they respond to?
  • What do they NOT respond to?
A

EGFR-TKIs

-unlikely to respond to Anti-EGFR monoclonal Abs

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4
Q

Lung adenoca - EGFR mutations:

-Secondary resistance is ass. w/?

A

Additional EGFR mutations

-T790M

Mutations in other genes:

-MET

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5
Q

Mucinous Adenocarcinoma of the lung is associated with what mutation?

A

KRAS

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6
Q

Lung adenoca - ALK mutations:

  • Mutation
  • Leads to
  • Results from
A

EML4-ALK translocation fusion gene of the transcription activation domain of ALK with the dimerization domain of EML4

  • Constitutive activation
  • Results from interstitial inversion in the short arm of chr2
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7
Q

What gene mutation is seen in 1-2% of lung adenocarcinomas?

  • What is this similar to?
  • Treatment?
A

ROS1 mutations

  • similar to ALK mutations
  • may respond to TKIs
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8
Q

Peutx-Jeghers syndrome is associated with what gynecological neoplasms? (2)

A
  • Adenoma malignum of Cervix
  • Ovarian Sex Cord Tumor w/ Annular Tubules (SCTAT)
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9
Q

Lynch syndrome is associated with increased risk of what gynecological neoplasms? (2)

  • what is the lifetime risk %
  • location/subtype
A

Endometrial cancer (50%)

  • Lower Uterine Segment Epithelial Ovarian cancer (10%)
  • Clear cell type
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10
Q

What type of genes are BRCA1/BRCA2?

A

Tumor suppressor

-Hereditary breast/ovarian cancer (HBOC)

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11
Q

BRCA1/BRCA2 are associated with what gynecological neoplasms (Increased risk)?

-What/Where is the precursor lesion

A

Epithelial Ovarian Carcinoma (10X increased risk)

-Serous Tubal Intraepithelial Carcinoma (STIC) in the Fallopian Tube

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12
Q

Malignant transformation of cervical carcinoma is related to what? (2)

A
  • Ease with which the viral genome integrates into host genome
  • Gene sequence (alleles) of the viral E6 and E7 genes
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13
Q

HPV infections that result in benign cervical processes usually have what?

A

Episomal viral DNA

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14
Q

What does the E7 gene product inhibit?

A

Retinoblastoma

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15
Q

What does the E6 gene product inhibit?

A

p53 tumor suppressor proteins

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16
Q

What is Tuberous Sclerosis Complex also known as?

A

Bourneville syndrome

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17
Q

What are the Major features of Tuberous Sclerosis? (10)

A
  • Angiofibroma (Facial; “adenoma sebaceum”)
  • Fibromas (Sub/Periungual; “Koenen tumor”)
  • Hypomelanotic macules (“ash leaf spots”)
  • CT nevus (“shagreen patch”)
  • Retinal hamartomas
  • Cerebral Cortical Tuber
  • Subependymal Giant Cell Astrocytoma
  • Cardiac Rhabdomyomas
  • Lymphangioleiomyomatosis (LAM)
  • Renal Angiomyolipoma
18
Q

Tuberous Sclerosis has an increased risk of malignant renal neoplasms, what is the MC type?

A

CC-RCC

19
Q

Tuberous Sclerosis Complex (Bourneville syndrome):

  • Inheritance (2)
  • Gene/Chromosome/protein (2)
A
  • Sporadic (60%)/Autosomal Dominant
  • TSC1/chr9/hamartin
  • TSC2/chr16/tuberin
20
Q

What are the characteristic features of Nevoid basal cell carcinoma syndrome (AKA)? (3)

A

Gorlin Goltz syndrome

  • Odontogenic Keratocysts
  • BCC (numerous)
  • Bifid ribs
21
Q

Gorlin Goltz syndrome has a high rate of what other tumors? (3)

A
  • Medulloblastoma
  • Rhabdomyosarcoma
  • Meningioma
22
Q

Nevoid basal cell carcinoma syndrome (Gorlin Goltz syndrome):

  • Inheritance
  • Gene/Chromosome
A
  • Autosomal Dominant
  • PTCH1/chr9
23
Q

Neurofibromatosis type 1 (NF1) is also known as what?

A

von Recklinghausen disease

24
Q

NF1:

  • Inheritance
  • Gene/Chromosome/Protein
A
  • AD/Sporadic (50/50)
  • NF1 /chr17/neurofibromin
25
Q

NF1 has a predisposition to what neoplasms? (7)

A
  • MPNST
  • Optic Glioma
  • Leukemia
  • Medulloblastoma
  • Pheochromocytoma
  • Ampullary Adeno (sm.bwl)
  • Breast Cancer
26
Q

Neurofibromatosis type 2 (NF2):

  • AKA?
  • Inheritance
  • Gene/Chromosome/Protein
A

Bilateral Acoustic Neuroma syndrome

  • AD/Sporadic (70/30)
  • NF2/chr22/merlin
27
Q

What is the characteristic finding in NF2?

A

Bilateral Vestibular Nerve Schwannomas

28
Q

NF2 has a predisposition to what neoplasms? (4)

A
  • Bilateral Vestibular Nerve Schwannomas
  • Meningiomas
  • Ependymomas
  • Pilocytic Astrocytoma
29
Q

Li-Fraumeni syndrome:

-Gene/Chromosome/Protein

A

TP53/chr17/p53

*predisposition to a wide variety of tumors, usually at young age

30
Q

Beckwith-Wiedman syndrome:

-Genetic abnormality

A

Abnormal transcription of genes with the the 11p15.5 band

-11p is an imprinted domain in which Maternally derived alleles are preferentially expressed

31
Q

Beckwith-Wiedman syndrome:

-Fetal/Obstetric findings (4)

A
  • Large for gestational age (LGA)
  • Polyhydramnios
  • Enlarged placenta
  • Long umbilical cord
32
Q

Beckwith-Wiedman syndrome:

-What tumor types occur at a high rate? (2)

A

Embryonal tumors

  • Wilms tumor
  • Hepatoblastoma
33
Q

What are the chromosomal breakage syndromes? (5)

A
  • Bloom syndrome
  • Ataxia Telangiectasia
  • Nijmegen syndrome
  • Fanconi syndrome
  • Xeroderma Pigmentosa
34
Q

Chromosomal breakage syndromes:

  • Underlying defect
  • Clinical effect
A
  • DNA repair mechanisms
  • Predisposition to cancer
35
Q

PTEN related disorders? (3)

A
  • Cowden syndrome
  • Bannayan-Riley-Ruvalcaba syndrome
  • Proteus syndrome
36
Q

Cowden syndrome:

-Gene/Chromosome

A

PTEN/chr10

37
Q

Cowden syndrome:
-Manifestations (6)

A
  • Hamartomas (GI)
  • Lipomas/fibromas
  • Trichilemmomas
  • Macrocephaly
  • Breast Cancer (HighRisk)
  • Thryoid Cancer (follicular)
38
Q

Pathognomonic for Cowden syndrome.

A

Cerebellar Dysplastic Gangliocytoma (Lhermitte-Duclos lesion)

39
Q

Carney complex is also known as what? (2)

A

LAMB syndrome

-Lentigines, Atrial Myxoma, Blue Nevi

NAME syndrome

-Nevi, Atrial Myxoma,Myxoid Neurofibroma, Ephelides

40
Q

What tumor is seen in most affeted males with Carney Complex?

-What tumor is rarely sporadic but associated with Carney Complex?

A

Large cell calcifying Sertoli cell tumors

Psammomatous Melanotic Schwannoma

41
Q

T/F: Carney complex and Carney triad are entirely different syndromes?

A

True

42
Q

What is the carney triad?

A
  • Gastric GIST
  • Pulmonary Chondroma
  • Extra-Adrenal Paraganglioma

Boards.CP.Molecular (7 decks)

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