Lung,Gyn,TumorSyndromes Flashcards
What 3 genes are frequently mutated in Lung Adenocarcinoma (all mutually exclusive from one another)?
- EGFR
- KRAS
- Alk
Lung adenoca - EGFR mutations:
- Exons
- Protein
- Population (2)
- Exons 18-21
- Tyrosine Kinase domain
- Young Asians/Non-smokers
Lung adenoca - EGFR mutations (Exons 18-21):
- What do they respond to?
- What do they NOT respond to?
EGFR-TKIs
-unlikely to respond to Anti-EGFR monoclonal Abs
Lung adenoca - EGFR mutations:
-Secondary resistance is ass. w/?
Additional EGFR mutations
-T790M
Mutations in other genes:
-MET
Mucinous Adenocarcinoma of the lung is associated with what mutation?
KRAS
Lung adenoca - ALK mutations:
- Mutation
- Leads to
- Results from
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
What gene mutation is seen in 1-2% of lung adenocarcinomas?
- What is this similar to?
- Treatment?
ROS1 mutations
- similar to ALK mutations
- may respond to TKIs
Peutx-Jeghers syndrome is associated with what gynecological neoplasms? (2)
- Adenoma malignum of Cervix
- Ovarian Sex Cord Tumor w/ Annular Tubules (SCTAT)
Lynch syndrome is associated with increased risk of what gynecological neoplasms? (2)
- what is the lifetime risk %
- location/subtype
Endometrial cancer (50%)
- Lower Uterine Segment Epithelial Ovarian cancer (10%)
- Clear cell type
What type of genes are BRCA1/BRCA2?
Tumor suppressor
-Hereditary breast/ovarian cancer (HBOC)
BRCA1/BRCA2 are associated with what gynecological neoplasms (Increased risk)?
-What/Where is the precursor lesion
Epithelial Ovarian Carcinoma (10X increased risk)
-Serous Tubal Intraepithelial Carcinoma (STIC) in the Fallopian Tube
Malignant transformation of cervical carcinoma is related to what? (2)
- Ease with which the viral genome integrates into host genome
- Gene sequence (alleles) of the viral E6 and E7 genes
HPV infections that result in benign cervical processes usually have what?
Episomal viral DNA
What does the E7 gene product inhibit?
Retinoblastoma
What does the E6 gene product inhibit?
p53 tumor suppressor proteins
What is Tuberous Sclerosis Complex also known as?
Bourneville syndrome
What are the Major features of Tuberous Sclerosis? (10)
- 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
Tuberous Sclerosis has an increased risk of malignant renal neoplasms, what is the MC type?
CC-RCC
Tuberous Sclerosis Complex (Bourneville syndrome):
- Inheritance (2)
- Gene/Chromosome/protein (2)
- Sporadic (60%)/Autosomal Dominant
- TSC1/chr9/hamartin
- TSC2/chr16/tuberin
What are the characteristic features of Nevoid basal cell carcinoma syndrome (AKA)? (3)
Gorlin Goltz syndrome
- Odontogenic Keratocysts
- BCC (numerous)
- Bifid ribs
Gorlin Goltz syndrome has a high rate of what other tumors? (3)
- Medulloblastoma
- Rhabdomyosarcoma
- Meningioma
Nevoid basal cell carcinoma syndrome (Gorlin Goltz syndrome):
- Inheritance
- Gene/Chromosome
- Autosomal Dominant
- PTCH1/chr9
Neurofibromatosis type 1 (NF1) is also known as what?
von Recklinghausen disease
NF1:
- Inheritance
- Gene/Chromosome/Protein
- AD/Sporadic (50/50)
- NF1 /chr17/neurofibromin
